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PORPHYRIA FACTS:


CEP
Congenital Erythropoietic porphyria


Description

Congenital erythropoietic porphyria (CEP) is a disease of haem biosynthesis
caused by a deficiency of uroporphyrinogen III synthetase.

SOURCE:
Congenital erythropoietic porphyria: dilemmas in present day management.
Dawe SA, et. al.
Departments of Dermatology, Haematology,
and Clinical Biochemistry
Kings College Hospital
Denmark Hill, London
Clinical Experimental Dermatology
2002 Nov;27(8):680-3
+++++++++++++++++

CEP is short for Congenital erythropoietic porphyria

SOURCE:
The Porphyrias
Alana Adams RPH
Welsh Drug Information Center
Cardiff, Wales, U.K.
++++++++++++++++
Congenital porphyria is another name for Congenital erythropoietic porphyria
(CEP).

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++
UROS deficiency is another name for Congenital erythropoietic porphyria (CEP).

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++

Congenital Erythropoietic Porphyria (CEP) is another name for porphyria
erythropoietica.

SOURCE:
Congenital Erythropoietic Porphyria (CEP)
Jeanette Hebel Matthews, MD,
Department of Dermatology
The Skin Surgery Center
++++++++++++++++
Congenital hematoporphyria is another name for Congenital erythropoietic
porphyria (CEP)?

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++


Congenital hematoporphyria is another name for Congenital Erythropoietic
Porphyria (CEP).


SOURCE:
Congenital Erythropoietic Porphyria (CEP)
Jeanette Hebel Matthews, MD,
Department of Dermatology
The Skin Surgery Center
++++++++++++++++

Gunther’s Disease is the common name for CEP.

SOURCE:
The Porphyrias
United Hospital
United Medical Services
1999
++++++++++++++++

Erythropoietic uroporphyria is another name for Congenital erythropoietic
porphyria (CEP).

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++

Congenital porphyria is a less common name for CEP.

The full name for CEP is Congenital Erythropoietic Porphyria.

SOURCE:
Congenital Erythropoietic Porphyria (CEP)
Jeanette Hebel Matthews, MD,
Department of Dermatology
The Skin Surgery Center
+++++++++++++++

Porphyria erythropoietica is another name previously used for congential
erythropoietic porphyria known as CEP.

SOURCE:
Congenital Erythropoietic Porphyria (CEP)
Jeanette Hebel Matthews, MD,
Department of Dermatology
The Skin Surgery Center
++++++++++++++++

CEP is short for Congenital erythropoietic porphyria

SOURCE:
Gunther's Disease
United Health Care Systems
1996
+++++++++++++++

Porphyria erythropoietics is a previously clinically used name for CEP.

SOURCE:
The Porphyrias
United Hospital
United Medical Services
1999
++++++++++++++++
CEP is an inborn error of porphyrin-heme synthesis which is inherited.


SOURCE:
Congenital Erythropoietic Porphyria (CEP)
Jeanette Hebel Matthews, MD,
Department of Dermatology
The Skin Surgery Center
++++++++++++++

CEP Porphyria is characterized by the accumulation of photosensitive, toxic
intermediates of the heme metabolic pathway in various organs of the body
including the skin, eye and neural
tissue.

SOURCE:
Clinical Experimentsin Ophthalmology
28(4): 314-8
2000
"Congenital porphyria with necrotizing scleritis in a 9-year-old child."
.Venkatesh, P., S. P. Garg, et al.
+++++++++++++

Uroporphyrinogen III synthase is a biochemical name for CEP.

SOURCE:
Congenital Erythropoietic Porphyria (CEP)
Jeanette Hebel Matthews, MD,
Department of Dermatology
The Skin Surgery Center
++++++++++++

Prevalence

Congenital erythropoietic porphyria is a rare autosomal recessive disorder.

SOURCE:
Congenital erythropoietic porphyria: dilemmas in present day management.
Dawe SA, et. al.
Departments of Dermatology, Haematology,
and Clinical Biochemistry
Kings College Hospital
Denmark Hill, London
Clinical Experimental Dermatology
2002 Nov;27(8):680-3
+++++++++++++++++
CEP Porphyria is a rare metabolic disorder.

SOURCE:
Clinical Experimentsin Ophthalmology
28(4): 314-8
2000
"Congenital porphyria with necrotizing scleritis in a 9-year-old child."
Venkatesh, P., S. P. Garg, et al.
+++++++++++++++++
Porphyrins in CEP patients are also deposited in the teeth and bones in
addition to bone marrow, red blood cells, plasma, urine and feces.

SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++++++

Congenital erythropoietic porphyria (CEP) is a rare, early onset,photomutilating
condition.

SOURCE:
Management of acute and cutaneous porphyrias.
nternational Journal Clinical Practrice
2002 May;56(4):272-8
Badminton MN, Elder GH.
Department of Medical Biochemistry,
University of Wales College of Medicine,
Cardiff, UK.
++++++++++++++

It is important to remember that CEP is extremmely rare.

SOURCE:
The Porphyrias
Meyer, Urs A.
Harrison’s Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.
++++++++++++++

Congenital erythropoietic porphyria is a rare,

SOURCE:
Management of acute and cutaneous porphyrias.
Badminton MN, Elder GH.
Department of Medical Biochemistry
University of Wales College of Medicine
Cardiff, UK.
Int Journal of Clinical Practice
2002 May;56(4):272-8.
++++++++++++++

CEP is extremmely rare.

SOURCE:
Metabolic Disorders
Porphyrias: Clinical Manifestations, Diagnosis and Treatment
Bernardo Haddock Lobo Goulart & Samanta Teixeira Basto
University Medical School, Brazil
+++++++++++++++
It is fortunately very rare to have CEP.

SOURCE:

The Porphyrias
Alana Adams RPH
Welsh Drug Information Center
Cardiff, Wales, U.K.
++++++++++++++++

Congenital Erytrhopoietic Porphyria (CEP) is extremmely rare.

SOURCE:
Metabolic Disorders
Porphyrias: Clinical Manifestations, Diagnosis and Treatment
Bernardo Haddock Lobo Goulart & Samanta Teixeira Basto
+++++++++++++

It is important to remember that CEP is extremmely rare.

SOURCE:

The Porphyrias
Meyer, Urs A.
Harrison's Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.
+++++++++++++++

CEP is very rare.

SOURCE:
American Porphyria Foundation
+++++++++++++++

CEP is extremely rare.

SOURCE:
Canadian Porphyria Foundation
+++++++++++++++

CEP type of porphyria is very rare.

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
+++++++++++++++++


Congenital erythropoietic porphyria (CEP) is a photomutilating condition.

SOURCE:
Management of acute and cutaneous porphyrias.
nternational Journal Clinical Practrice
2002 May;56(4):272-8
Badminton MN, Elder GH.
Department of Medical Biochemistry,
University of Wales College of Medicine,
Cardiff, UK.
++++++++++++++
Both sexes are equally affected by CEP.

SOURCE:

The Porphyrias
Alana Adams RPH
Welsh Drug Information Center
Cardiff, Wales, U.K.
++++++++++++++++++++++
Internationally: CEP is reported in diverse populations.

The total number of cases reported worldwide is less than 200.

SOURCE:

Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
+++++++++++++++++++++


The erythropoietic porphyrias are relatively uncommon: fewer than 200 cases of
CEP and fewer than 20 cases of HEP have been reported.

SOURCE: .
Environmental Chemical Exposures and
Disturbances of Heme Synthesis
Joseph R. Bloomer M.D. et. al.
Department of Medicine
University of Alabama at Birmingham
Birmingham, Alabama
++++++++++++++
No racial predilection for CEP exists.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++++++++

CEP is a rare inborn error of porphyrin-heme synthesis inherited that is as an
autosomal recessive trait.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++
Congenital erythropoietic porphyria (CEP) is a rare genetic disorder in which
deficiency of uroporphyrinogen III synthase results in excessive production of
Type I porphyrins.


SOURCE:
Transfusion in Gunther's Disease
Gorchein A, et. al.
Imperial College School of Medicine
St Mary's, London, UK.
Biomedical Chromatography
1998 Nov-Dec;
12(6):350-6
++++++++++++++

CEP is an autosomal recessive disease.

SOURCE:

"The Porphyrias"
Karl E. Anderson M.D.
HEPATOLOGY:
A Textbook of Liver Disease
W.B. Saunders Company
Philadephia 1996
++++++++++++++

CEP is a rare autosomal recessive disorder with a deficiency of uroprphyrinogen
III synthase.

SOURCE:
Robert Johnson M.D.
Internal Medicine
+++++++++++++

CEP results from low levels of the enzyme responsible for the fourth step in
heme production.

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++++++

CEP is a disease that is extremely rare.

SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
+++++++++++

Etiology

CEP was recognized as an inborn error of metabolism by Garrod in the year
1923.

SOURCE:
The little imitator
Porphyria: a Neuropsychiatric Disorder
Helen Crimlisk
Neurology, Neurosurgery & Psychiatry
1997
62; 319-328
+++++++++++++

Inheritance

Congenital erythropoietic porphyria (CEP) is an autosomal recessive porphyria.

SOURCE:
Late onset porphyrias: What are they?
Sassa S, et. al.
Biochemical Hematology Lab,
Rockefeller University
New York, NY
Cellular & Molecular Biology
Noisy-le-grand
2002 Feb;48(1):97-101
+++++++++++++++++++
Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn
error of heme biosynthesis.

SOURCE:
Blood
1998 Dec
1;92(11):4053-8
+++++++++++++++++

Congenital erythropoietic porphyria is inherited in an autosomal recessive
pattern.

Autosomal recessive means that two copies of the gene must be altered for a
person to be affected by the disorder.

Most often, the parents of a child with an autosomal recessive disorder are not
affected, but are carriers of one copy of the altered gene.

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++


CEP is autosomal recessive in inheritance.

SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++++++++

CEP is an autosomal recessive disorderand is phenotypically heterogeneous
with respect to the age of onset and the severity of the symptoms.

SOURCE:


Moreau-Gaudry F, et. al.
Laboratoire de Biochimie
Medicale et Biologie
Moleculaire, Universite
de Bordeaux II, France.
Blood
1995 Mar 15;85(6):1449-53
+++++++++++++++

Onset

Congenital erythropoietic porphyria (CEP) is evidenced in infancy.

SOURCE:
Porphyria Resources
United Medical Services
1996
++++++++++++

Symptoms usually begin during infancy (anemia can develop before birth in
some cases), but can start in childhood or adulthood.

Symptoms that appear in adulthood tend to be milder than symptoms that begin
early in life.

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
+++++++++++++

CEP has onset in infancy.

SOURCE:
Gunther's Disease
United Health Care Systems
1996
++++++++++++++
As is characteristic of the erythropoietic porphyrias, symptoms begin during
infancy.

SOURCE:

Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++++

Congenital erythropoietic porphyria has early onset.

SOURCE:

Management of acute and cutaneous porphyrias.
nternational Journal Clinical Practrice
2002 May;56(4):272-8
Badminton MN, Elder GH.
Department of Medical Biochemistry,
University of Wales College of Medicine,
Cardiff, UK.
++++++++++++++++

Congenital erythropoietic porphyria usually has an early onset.

SOURCE:
Elder GH.
Department of Medical Biochemistry
University of Wales College of Medicine
Cardiff, UK.
++++++++++++
CEP typically occurs in infants or young children; however, several adult-onset
cases are reported.

SOURCE:
Congenital Erythropoietic Porphyria (CEP)
Jeanette Hebel Matthews, MD,
Department of Dermatology
The Skin Surgery Center
++++++++++++

Sometimes CEP is recognized as a cause of anemia in a fetus before birth. In
less severe cases symptoms may begin during adult life.

SOURCE:

Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++

Congenital erythropoietic porphyria (CEP) is evidenced in infancy, but the
porphyrias of other types have been evidenced almost entirely in adulthood in
most cases and only rarely during childhood.

SOURCE:

NORD
++++++++++++

CEP has been documented in two young brothers,aged 5 and 2 years, with
typical features of congenital erythropoietic porphyria.

The elder did not receive medical attention until the age of 2 years, even though
his urine had been redalmost from birth, and despite severe scarring of the
hands and face.

The younger brother suffered haemolysis at birth.

The uroporphyrinogen III cosynthase (URO IIIS) enzyme activity of red blood
cells was 2% and 1.2% inthe brothers, and genetic studies showed two
different mutations of the URO IIIS gene, C73R and P248Q.

The latter is a recently described mutation."

SOURCE:
British Journal of Dermatology
141(3): 547-50
1999
"Congenital erythropoietic porphyria affecting two brothers."
Herrera Saval, A. and A. Moruno Tirado
++++++++++++++


Cause

Congenital erythropoietic porphyria (CEP) is an inherited disease due
to a deficiency in the uroporphyrinogen III synthase.

SOURCE:
Lentivirus-mediated gene transfer of uroporphyrinogen III synthase
fully corrects the porphyric phenotype in human cells.
De Verneuil H. et. al.
University Victor Segalen
Bordeaux Cedex, France.
Journal of Molecular Medicine.
2003 May;81(5):310-20.
++++++++++++++++
Congenital erythropoietic porphyria (CEP) results from mutations in the
uroporphyrinogen III synthase (URO-synthase) gene.

SOURCE:
Blood
1998 Dec
1;92(11):4053-8
++++++++++++++++

The deficient enzyme is uroporphyrinogen III cosynthase (or uroporphyrinogen
III synthase).

Various mutations in the gene for this enzyme have been identified in different
families.

SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++++++++++

Different exonic point mutations in the UROIIISgene have been identified in CEP
providingphenotype-genotype correlations in thisdisease.

SOURCE:
Moreau-Gaudry F, et. al.
Laboratoire de Biochimie
Medicale et Biologie
Moleculaire, Universite
de Bordeaux II, France.
Blood
1995 Mar 15;85(6):1449-53
++++++++++++++++

CEP uruporphyringon III synthase is characterized by accumulation
of uroporphyrin I in the bone marrow, peripheral blood and other organs.


SOURCE:
Lentivirus-mediated gene transfer
of uroporphyrinogen III synthase
fully corrects the porphyric
phenotype in human cells.
De Verneuil H. et. al.
University Victor Segalen
Bordeaux Cedex, France.
Journal of Molecular Medicine.
2003 May;81(5):310-20.
++++++++++++++++++

CEP is caused by autosomal recessive inheritance of genes that encode
abnormal uroporphyrinogen III synthase enzyme protein.

The resultant deficient activity of this enzyme leads to hemolytic anemia,
cutaneous photosensitivity, and their complications.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
++++++++++++++++

CEP is caused by abnormal uroporphyrinogen III synthase enzyme protein.

SOIURCE:
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++++++


Congenital erythropoietic porphyria(CEP) results from the deficient
activity of the heme biosynthetic enzyme uroporphyrinogen III synthase (UROS).

SOURCE:
Molecular Genetics & Metabolism
1998 Sep;65(1):10-7
++++++++++++++++

Congenital erythropoietic porphyria (CEP) reslts from the accumulation of
porphyrins because of defective uroporphyrinogen III synthase (UROIIIS).

SOURCE:
Moreau-Gaudry F, et. al.
Laboratoire de Biochimie
Medicale et Biologie
Moleculaire, Universite
de Bordeaux II, France.
Blood
1995 Mar 15;85(6):1449-53
++++++++++++++++++

Congenital erythropoietic porphyria (CEP) is an autosomal recessive
disorder.

SOURCE:
Molecular Genetics & Metabolism
1998 Sep;65(1):10-7
+++++++++++++++++

Clinical findings

In CEP the urine contains high amounts of uroporphyrin I, coproporphyrin.

SOURCE:

The Porphyrias
Meyer, Urs A.
Harrison’s Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.
+++++++++++++++
Congenital Erythropoietic Porphyria (CEP) is readily recognizable in early life by
photosensitivity and voiding of pink, wine-red, or dark urine.

SOURCE:

NORD
+++++++++++++++++


Diminished activity of uroporphyrinogen III synthase (co-synthase) in
erythrocytes is definitive evidence for a diagnosis of CEP.


SOURCE:

Porphyria Resources
United Medical Services
1996
++++++++++++++++

In CEP porphyrins are released from the maturing erythrocytes into the plasma
and are excreted by renal mechanisms; urine with a port-wine color is
produced.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
+++++++++++++++++++
.

Diminished activity of uroporphyrinogen III synthase (co-synthase) in
erythrocytes is definitive evidence for a diagnosis.

SOURCE:

NORD
+++++++++++++++++


A diagnosis may be suspected on the basis of the symptoms.

In addition, pink to dark red urine and reddish brown teeth (caused by a buildup
of porphyrins) suggest this CEP.

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++


CEP is primarily a disorder of bone marrow heme synthesis.

SOURCE:
Congenital Erythropoietic Porphyria (CEP)
Jeanette Hebel Matthews, MD,
Department of Dermatology
The Skin Surgery Center
++++++++++++++++

The typical complaint is blistering and fragility of light-exposed skin in an
individual with discolored urine.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
++++++++++++++++

There is considerable fragility of light-exposed skin in CEP patients.

SOURCE:
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++++++


The presentation of CEP at birth in a patient with a history of a difficult perinatal
course and concomitant jaundice usually indicates severe disease.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
++++++++++++++++

Hemolytic anemia is usually found early in CEP patients.

SOURCE:
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++++++

CEP patients may have a history of hemolytic anemia before the complete
diagnosis was recognized.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
++++++++++++++++

Congenital erythropoietic porphyria (CEP), which is the result of a deficiency
of uroporphyrinogen (URO) III synthase activity.

SOURCE:

Treatment of severe congenital erythropoietic
porphyria by bone marrow transplantation
Robert J. Desnick, MD,
Mt. SInai Medical Center
New York, New York
Journal of American Academy of Dermatology
2001;45:279-82
+++++++++++++++++
In CEP there is cutaneous photosensitivity.

SOURCE:
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++

Clinical manifestations can range from mild to severe.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
+++++++++++++++++

Chronic damage of skin, cartilage, and bones can cause mutilation.
Hypertrichosis, erythrodontia, and reddish-colored urine are often present.

SOURCE:
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
+++++++++++++++++

Splenomegaly in CEP can contribute to anemia and cause leukopenia and
thrombocytopenia (hypersplenism).

The anemia stimulates the bone marrow to generate more porphyrin-laden
erythroid cells, thus increasing porphyrin production and perpetuating the
hemolysis and photosensitivity.

SOURCE:

The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
++++++++++++++++



X-ray studies in CEP show osteopenia and acro-osteolysis.

SOURCE:
Congenital Erythropoietic Porphyria (CEP)
Jeanette Hebel Matthews, MD,
Department of Dermatology
The Skin Surgery Center
+++++++++++++++++
Clinical manifestations of CEP include photosensitivity.


SOURCE:
Dr. Poh-Fitzpatrick, professor,
Department of Dermatology
Columbia University, New York
Dermatology Times,
Jun96, Vol. 17 Issue 6, p14, 2p
++++++++++++++++++++
Hypertrichosis of the face and extremities is common.

SOURCE:

Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++++++++

Congenital erythropoietic porphyria is a severe, photomutilating condition.

SOURCE:
Management of acute and cutaneous porphyrias.
Badminton MN, Elder GH.
Department of Medical Biochemistry
University of Wales College of Medicine
Cardiff, UK.
Int Journal of Clinical Practice
2002 May;56(4):272-8.
+++++++++++++++

Hemolytic anemia in CEP can be mild or severe, with resultant splenomegaly
and osseous fragility.

SOURCE:
Congenital Erythropoietic Porphyria (CEP)
Jeanette Hebel Matthews, MD,
Department of Dermatology
The Skin Surgery Center
++++++++++++++
There can be extreme scarring in CEP.

SOURCE:
Dr. Poh-Fitzpatrick, professor,
Department of Dermatology
Columbia University, New York
Dermatology Times,
Jun96, Vol. 17 Issue 6, p14, 2p
++++++++++++++++++++
Porphyrins are markedly increased in bone marrow, red blood cells, plasma,
urine and feces.

SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++++++++++


CEP is found in the fourth enzyme of the heme biosynthesis pathway.


SOURCE:
Lentivirus-mediated gene transfer
of uroporphyrinogen III synthase
fully corrects the porphyric
phenotype in human cells.
De Verneuil H. et. al.
University Victor Segalen
Bordeaux Cedex, France.
Journal of Molecular Medicine.
2003 May;81(5):310-20.
+++++++++++++++

Congenital erythropoietic porphyria is a rare genetic disorder in which deficiency
of uroporphyrinogen III synthase results in excessive production of Type I

SOURCE:
Porphyrins
Biomedicine & Chromatograpy
1998 Nov-Dec;12(6):350-6
+++++++++++++

Synthesis of heme and hemoglobin is actually increased to compensate for
the shortened red blood cell survival.

SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++++

There can be severe blistering in association with CEP.

SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++++

CEP causes the skin to be overly sensitive to sunlight.


SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++++++

Severe blistering can exhibit in CEP.

SOURCE:
Dr. Poh-Fitzpatrick, professor,
Department of Dermatology
Columbia University, New York
Dermatology Times,
Jun96, Vol. 17 Issue 6, p14, 2p
++++++++++++++++++++

CEP can have crystals in the red blood cells that cause hemolysis.

SOURCE:
Robert Johnson M.D.
Internal Medicine
++++++++++++++++++
Most CEP patients have an enlargement of the spleen.

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++++++

Hemolysis is a feature of most, if not all, cases of CEP.

SOURCE:

"The Porphyrias"
Karl E. Anderson M.D.
HEPATOLOGY:
A Textbook of Liver Disease
W.B. Saunders Company
Philadephia 1996
++++++++++++++++++

Most CEP patients have a low number of red blood cells (anemia).

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++++++

Hemolysis is found in most CEP patients.

SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++++++++

In CEP there is increased hair growth.

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++++++


In CEP there is an inheritance of 2 mutant alleles for the gene encoding the
enzyme uroporphyrinogen III synthase leads to accumulation of porphyrins of
the isomer I type that are biologically useless but cause cutaneous
photosensitivity.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
++++++++++++

Infections, scarring, and changes in pigmentation, are seen in CEP patients.


SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++++++

CEP is autosomal recessive in inheritance.

SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
+++++++++++

Cutaneous photosensitivity characterized by blisters, erosions, and scarring of
light-exposed skin is expressed in CEP.

SOURCE:
Porphyria
eMedicine Journal,
May 22 2002,
Volume 3, Number
++++++++++++++
Areas of skin in CEP patients exposed to the sun develop severe blistering.

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++++++


Clinical findings

Feces in Gunther's Disease demonstrate both increased uroporphyrin and
coproporphyrin.

SOURCE:
Gunther's Disease
United Health Care Systems
1996
+++++++++++++++

In CEP the urine contains high amounts of uroporphyrin I, coproporphyrin.

SOURCE:
The Porphyrias
Meyer, Urs A.
Harrison’s Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.
+++++++++++++++

Dermatopathologic changes can be found in CEP.

SOURCE:
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++
Porphyrins are also deposited in the bone, where they cause an orange-red
fluorescence.

The severe loss of bone with subsequent contractures and deformities occurs in
most adults with EP.

X-ray studies show osteopenia and acro-osteolysis.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
+++++++++++++++

Bone demineralization in CEP can be substantial.

SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
+++++++++++++++


In CEP similar dermatopathologic changes can be found in all types of porphyria
with photocutaneous manifestations.

The characteristic feature is a subepidermal blister with a slight superficial
perivascular lymphocytic infiltrate.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
+++++++++++++++++

There are no neurologic manifestations. from CEP like other porphyrias.

SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
++++++++++++++++

Deficient activity of the enzyme uroporphyrinogen III synthase in erythrocyte
precursor cells causes a shift of the pathway away from the isomer III
porphyrinogen production that can affect the end-product heme; isomer I
porphyrinogens that cannot be used to form heme may be overproduced.

The accumulated isomer I porphyrinogens are spontaneously oxidized to their
corresponding porphyrins, which are water-soluble photosensitizers with a
reddish hue.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
++++++++++++++

In CEP there is a deficient activity of the enzyme uroporphyrinogen III synthase.

eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++++

Reddish urine or pink staining of diapers by uirine may be observed
shortly after birth in CEP patients.

SOURCE:
"The Porphyrias"
Karl E. Anderson M.D.
HEPATOLOGY:
A Textbook of Liver Disease
W.B. Saunders Company
Philadephia 1996
++++++++++++++++

Skin photosensitivity may be extreme and lead to blistering, severe scarring and
increased hair growth.

SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
+++++++++++++++++
CEP is the most disfiguring porphyria in humans.

SOURCE:
Congenital erythropoietic porphyria
Frederick A. Harada, et. al.
Detroit, Michigan
++++++++++++++++


Congenital erythropoietic porphyria (CEP), which is the result of a deficiency
of uroporphyrinogen (URO) III synthase activity, is the most disfiguring porphyria
in humans.

SOURCE:
Journal of American Academy of Dermatology
2001;45:279-82
+++++++++++++++

Hemolytic anemia and splenomegaly are almost always present in CEP.

SOURCE:
The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
++++++++++++++

The main clinical features of (CEP) are severe photodestruction of the skin and
haemolytic anaemia.

SOURCE:

Transfusion in Gunther's Disease
Gorchein A, et. al.
Imperial College School of Medicine
St Mary's, London, UK.
Biomedical Chromatography
1998 Nov-Dec;
12(6):350-6
+++++++++++++++++

Blood vessels in the superficial vascular plexus have markedly thickened,
hyalinized walls that contain periodic acid-Schiff (PAS)-positive,
diastase-resistant glycoproteins.

Papillary dermal tips often festoon into the blister cavity due to the
increased rigidity of the hyalinized vessel walls.


SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
+++++++++++++++++

Subepidermal blistering is a feature of CEP.

SOURCE:
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++++++


Symptoms

Congenital Erythropoietic Porphyria is readily recognizable in early life by
photosensitivity and voiding of pink, wine-red, or dark urine.

SOURCE:
Porphyria Resources
United Medical Services
1996
++++++++++++++++
Congenital erythropoietic porphyria (CEP) is a photomutilating condition.

SOURCE:
Management of acute and cutaneous porphyrias.
nternational Journal Clinical Practrice
2002 May;56(4):272-8
Badminton MN, Elder GH.
Department of Medical Biochemistry,
University of Wales College of Medicine,
Cardiff, UK.
++++++++++++++

Erythrodontia is very common in CEP.

SOURCE:
The Porphyrias
Meyer, Urs A.
Harrison’s Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991
+++++++++++++

Photosensitivity in this very rare autosomal recessive disease may begin in
infancy.

SOURCE:
Gunther's Disease
United Health Care Systems
1996
++++++++++++++++

Symptoms

Congenital porphyria (CEP) is a none-acute porphyria.

SOURCE:
Dr. Michael R. Moore
Porphyria Research Unit
University of Queensland
Department of Medicine
Brisbane, Australia 1999
+++++++++++++++++

Ectropion will often manifest in CEP.


SOURCE:
Dr. Poh-Fitzpatrick, professor,
Department of Dermatology
Columbia University, New York
Dermatology Times,
Jun96, Vol. 17 Issue 6, p14, 2p
+++++++++++++++++

In CEP ocular damage can lead to blindness.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
+++++++++++++++++

Hypertrichosis, will often result in CEP.

SOURCE:
Dr. Poh-Fitzpatrick, professor,
Department of Dermatology
Columbia University, New York
Dermatology Times,
Jun96, Vol. 17 Issue 6, p14, 2p
++++++++++++++++

Hypertrichosis and erythrodontia are also common in CEP.

SOURCE:
The Porphyrias
Meyer, Urs A.
Harrison's Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.
++++++++++++++++



Hemolitic anemia are the solely manifestations of CEP.

SOURCE:

The Porphyrias
Meyer, Urs A.
Harrison's Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.
++++++++++++++++

In CEP blindness may oiccur.

SOURCE:
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
+++++++++++++++++

Congenital erythropoietic porphyria is a severe, photomutilating condition.
.
SOURCE:
Management of acute and cutaneous porphyrias.
nternational Journal Clinical Practrice
2002 May;56(4):272-8
Badminton MN, Elder GH.
Department of Medical Biochemistry,
University of Wales College of Medicine,
Cardiff, UK.
+++++++++++++++++

Severity of CEP depends on the mutations found in each patient and the degree
of enzyme deficiency.

SOURCE:

The Porphyrias
The Less Common Porphyrias
Endocrine and Metabolic Disorders
Merck Manual of Diagnosis
++++++++++++++

In CEP subsequent bilateral corneal scarring may occur.

SOURCE:
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++++


Alopecia, will often result in CEP.

SOURCE:
Dr. Poh-Fitzpatrick, professor,
Department of Dermatology
Columbia University, New York
Dermatology Times,
Jun96, Vol. 17 Issue 6, p14, 2p
++++++++++++++++++

Complications of CEP include Skeletal fracture, both spontaneous and
traumatic, may result from osseous fragility due to bone marrow hypertrophy.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++++

Splenomegaly is shown in manifestations of CEP.

SOURCE:
The Porphyrias
Meyer, Urs A.
Harrison’s Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.
+++++++++++++++
Anemia will often present in CEP.

SOURCE:
Dr. Poh-Fitzpatrick, professor,
Department of Dermatology
Columbia University, New York
Dermatology Times,
Jun96, Vol. 17 Issue 6, p14, 2p
++++++++++++++++

Erythrodontia is common in CEP.

SOURCE:

The Porphyrias
Meyer, Urs A.
Harrison's Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991
++++++++++++++++++

For CEP patients with sufficiently severe anemia, splenectomy, and
hypertransfusion therapy to shut off endogenous porphyrin production in the
bone marrow can be useful.

SOURCE:
Dr. Poh-Fitzpatrick, professor,
Department of Dermatology
Columbia University, New York
Dermatology Times,
Jun96, Vol. 17 Issue 6, p14, 2p
+++++++++++++++++

Hypertrichosis can aopear in cases of CEP.

SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++++++

Hypertrichosis is common in CEP.

SOURCE:

Metabolic Disorders
Porphyrias: Clinical Manifestations, Diagnosis and Treatment
Bernardo Haddock Lobo Goulart & Samanta Teixeira Basto
University Medical School, Brazil
+++++++++++++++++

Erythrodontia can manifest in CEP.

SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++++++


Erythrodontia is common in CEP.

SOURCE:
Metabolic Disorders
Porphyrias: Clinical Manifestations, Diagnosis and Treatment
Bernardo Haddock Lobo Goulart & Samanta Teixeira Basto
University Medical School, Brazil
++++++++++++++++

Hypertrichosis is common in CEP.

SOURCE:
The Porphyrias
Meyer, Urs A.
Harrison’s Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991
++++++++++++++++

Photosensitivity is a manifestation of CEP.



SOURCE:

The Porphyrias
Meyer, Urs A.
Harrison’s Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.
+++++++++++++++

Porphyria as a potential cause for bilateral necrotizing scleritis in children is very
infrequently emphasized in literature, probably due tothe relatively rare
occurrence and lack of well-documented cases.

A case of a 9-year-old child with [CEP] congenital porphyria who had
developed necrotizing scleral ulceration in both eyes in addition to severe
cutaneous hypersensitivity and facial disfigurement i
Has been documented.

SOURCE:
Clinical Experimentsin Ophthalmology
28(4): 314-8
2000
"Congenital porphyria with necrotizing scleritis in a 9-year-old child."
.Venkatesh, P., S. P. Garg, et al.
+++++++++++++++++

The severe loss of bone with subsequent contractures and deformities occurs
in most adults with CEP.

SOURCE:
Congenital Erythropoietic Porphyria (CEP)
Jeanette Hebel Matthews, MD,
Department of Dermatology
The Skin Surgery Center
++++++++++++++++

Treatment

Bone marrow transplantation has been successful in some patients with CEP.

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++

Frequent blood transfusions and surgical removal of the spleen decrease the
body's production of porphyrins, which can relieve symptoms.

Some people with severe cases of CEP require require regular blood
transfusions.

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
+++++++++++++++++

Treatment of CEP is based on oral carotenoids and sunlight exposition avoiding.

SOURCE:
The Porphyrias
Meyer, Urs A.
Harrison’s Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.
++++++++++++++++++

Treatment for CEP includes sun avoidance and physical sunscreens.

SOURCE:
Dr. Poh-Fitzpatrick, professor,
Department of Dermatology
Columbia University, New York
Dermatology Times,
Jun96, Vol. 17 Issue 6, p14, 2p
+++++++++++++++++++

Severe cases of CEP may be treated by bone marrow transplantation and are
potential candidates for somatic gene therapy. Epstein-Barr virus-transformed
B-cell lines from patients with CEP provide a model system for the disease.

SOURCE:
Moreau-Gaudry F, et. al.
Laboratoire de Biochimie
Medicale et Biologie
Moleculaire, Universite
de Bordeaux II, France.
Blood
1995 Mar 15;85(6):1449-53
++++++++++++++++++

Avoidance of sun is an absolute for CEP patients.

SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++++++++

Successful bone marrow transplantation for CEP patients has proven curative,
providing the rationale for stem cell gene therapy.

SOURCE:
Molecular Genetics & Metabolism
1998 Sep;65(1):10-7
++++++++++++++++++

The only treatment in CEP that corrects the enzymatic defect resulting in a cure
is bone marrow/stem cell transplantation.

SOURCE:
Congenital erythropoietic porphyria
Frederick A. Harada, et. al.
Detroit, Michigan
Journal of American Academy of Dermatology
2001;45:279-82
+++++++++++++++

Allogenic bone marrow transplantation in CEP patients has been considered but
because of the high associated mortality this procedure has been discounted at
present in the management of patients.

SOURCE:
Congenital erythropoietic porphyria: dilemmas in present day management.
Dawe SA, et. al.
Departments of Dermatology, Haematology and Clinical Biochemistry
Kings College Hospital
Denmark Hill, London
Clinical Experimental Dermatology
2002 Nov;27(8):680-3
++++++++++++++

In vitro gene transfer experiments have documented the feasibility of gene
therapy via hematopoietic cells to treat this disease.

SOURCE:
Lentivirus-mediated gene transfer of uroporphyrinogen III synthase
fully corrects the porphyric phenotype in human cells.
De Verneuil H. et. al.
University Victor Segalen
Bordeaux Cedex, France.
Journal of Molecular Medicine.
2003 May;81(5):310-20.
+++++++++++++++++


Congenital erythropoietic porphyria is a condition for which bone marrow
transplantation has been shown to be successful.

SOURCE:
Management of acute and cutaneous porphyrias.
Badminton MN, Elder GH.
Department of Medical Biochemistry
University of Wales College of Medicine
Cardiff, UK.
Int Journal of Clinical Practice
2002 May;56(4):272-8.
+++++++++++++++++++++

For severe transfusion-dependent cases of CEP, when allogeneic cell
transplantation cannot be performed, the autografting of genetically modified
primitive/stem cells may be the only alternative.

SOURCE:
Lentivirus-mediated gene transfer
of uroporphyrinogen III synthase
fully corrects the porphyric
phenotype in human cells.
De Verneuil H. et. al.
University Victor Segalen
Bordeaux Cedex, France.
Journal of Molecular Medicine.
2003 May;81(5):310-20.
+++++++++++++++

Congenital erythropoietic porphyria can be successfully treated by allogeneic
bone marrow transplantation.

SOURCE:
Department of Pediatric
Immunology and
Hematology, Hacettepe
University, Ankara, Turkey
++++++++++++++++


Treatment of CEP is based on oral carotenoids and sunlight exposition
avoiding.

SOURCE:
The Porphyrias
Meyer, Urs A.
Harrison's Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.
++++++++++++++++++

In the present studies lentiviral transduction of porphyric cell lines and primary
CD34(+) cells with the therapeutic human uroporphyrinogen III synthase (UROS)
cDNA resulted in both enzymatic and metabolic correction, as demonstrated by
the increase in UROS activity and the suppression of porphyrin accumulation in
transduced cells.

Very high gene transfer efficiency (up to 90%) was achieved in both
cell lines and CD34(+) cells without
any selection.

Expression of the transgene remained stable over long-term liquid culture.

Furthermore, gene expression was maintained during in vitro
erythroid differentiation of CD34(+) cells.

Therefore the use of lentiviral vectors is promising for the future treatment
of CEP patients by gene therapy.


SOURCE:
Lentivirus-mediated gene transfer of uroporphyrinogen III synthase
fully corrects the porphyric phenotype in human cells.
De Verneuil H. et. al.
University Victor Segalen
Bordeaux Cedex, France.
Journal of Molecular Medicine.
2003 May;81(5):310-20.
+++++++++++++++++

Topical lubrication of the eyes improves the dry eye symptoms and may
stabilize visual function.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++++++

Treatment consisting of splenectomy, are generally unsatisfactory.

SOURCE:
Porphyrins
Biomedicine & Chromatograpy
1998 Nov-Dec;12(6):350-6
++++++++++++++++

Bone Marrow Transplantation has been very effective in some patients.

SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
+++++++++++++++++

Various methods of treatment have been used to treat CEP with varying
success, including erythrocyte transfusion, hydroxyurea, and splenectomy.

SOURCE:
Congenital erythropoietic porphyria
Frederick A. Harada, et. al.
Detroit, Michigan
+++++++++++++++++

Congenital Erytrhopoietic Porphyria (CEP) Treatment is based on oral
carotenoids and sunlight exposition avoiding.

SOURCE:
Metabolic Disorders
Porphyrias: Clinical Manifestations, Diagnosis and Treatment
Bernardo Haddock Lobo Goulart & Samanta Teixeira Basto
+++++++++++++++++

Previous studies have suggested that oral charcoal may be of benefit in CEP
patients by binding porphyrins in the gut.

SOURCE:
Porphyrins
Biomedicine & Chromatograpy
1998 Nov-Dec;12(6):350-6
++++++++++++++++++


Previous studies have suggested that oral charcoal may be of benefit by binding
porphyrins in the gut in CEP.

Some studies have shown no benefit.

SOURCE:

Transfusion in Gunther's Disease
Gorchein A, et. al.
Imperial College School of Medicine
St Mary's, London, UK.
Biomedical Chromatography
1998 Nov-Dec;
12(6):350-6
+++++++++++++++++

There is a lack of benefit from oral charcoal in CEP.

SOURCE:
Transfusion in Gunther's Disease
Gorchein A, et. al.
Imperial College School of Medicine
St Mary's, London, UK.
Biomedical Chromatography
1998 Nov-Dec;
12(6):350-6
++++++++++++++++++

The only effective treatment for CEP patients is that which corrects the
enzymatic defect resulting in a cure is bone marrow/stem cell transplantation,
which has been reported previously in only 5 patients worldwide.

Five CEP patients have underwent successful bone marrow transplantation
performed in the United States for the therapeutic management of this
challenging type of porphyria.

SOURCE:
Treatment of severe congenital erythropoietic
porphyria by bone marrow transplantation
Robert J. Desnick, MD,
Mt. SInai Medical Center
New York, New York
Journal of American Academy of Dermatology
2001;45:279-82
+++++++++++++++++++

Treatment of severe CEP [congenital eythropoietic porphyria can be
successfully treated by use of bone marrow transplantation.

SOURCE:
Journal of American Academy of Dermatology
2001 Aug;45(2):279-82.
++++++++++++++++++++

Bone marrow transplantation has been used successfully in the treatment of
CEP.

SOURCE:
Treatment of severe congenital erythropoietic
porphyria by bone marrow transplantation.
Harada FA, et. al.
++++++++++++++++++++



Congenital erythropoietic porphyria is a condition for which bone marrow
transplantation has been shown to be successful.

SOURCE:
Management of acute and cutaneous porphyrias.
nternational Journal Clinical Practrice
2002 May;56(4):272-8
Badminton MN, Elder GH.
Department of Medical Biochemistry,
University of Wales College of Medicine,
Cardiff, UK.
+++++++++++++++++++

Treatment of CEP consists of shielding from light, blood transfusions
and splenectomy, but is generally unsatisfactory.

SOURCE:
Transfusion in Gunther's Disease
Gorchein A, et. al.
Imperial College School of Medicine
St Mary's, London, UK.
Biomedical Chromatography
1998 Nov-Dec;
12(6):350-6
+++++++++++++++++++

High-level expression of UROS in transduced CEP fibroblasts and lymphoblasts,
as well as in transduced K562 erythroid cells, demonstrated that the enzymatic
defect in CEP cells could be corrected by retroviral-mediated gene therapy
without selection and that the increased intracellular porphyrin
intermediates were not toxic to these cells, even when porphyrin production was
stimulated by supplemental ALA or iron.

In vitro studies provide the rationale for ex vivo stem cell gene therapy in
severely affected patients with CEP.

SOURCE:
Molecular Genetic Metabolism
1998 Sep;65(1):10-7
Kauppinen R,
Human Genetics
Mount Sinai School of Medicine
New York
+++++++++++++++++++

Morbidity

Death in CEP patients often occurrs early in adult life.


SOURCE:
Lentivirus-mediated gene transfer
of uroporphyrinogen III synthase
fully corrects the porphyric
phenotype in human cells.
De Verneuil H. et. al.
University Victor Segalen
Bordeaux Cedex, France.
Journal of Molecular Medicine.
2003 May;81(5):310-20.
+++++++++++++++++

Prognosis

The prognosis of CEP is poor.


SOURCE:
Lentivirus-mediated gene transfer of uroporphyrinogen III synthase
fully corrects the porphyric phenotype in human cells.
De Verneuil H. et. al.
University Victor Segalen
Bordeaux Cedex, France.
Journal of Molecular Medicine.
2003 May;81(5):310-20.
+++++++++++++++

With strict adherence to sun avoidance, scarring and mutilation can be
minimized.

Normal life spans are possible in many cases.

Despite the limited treatments that are currently available, the prognosis is not
invariably poor.

Most patients with EP survive into adulthood, with a life expectancy of 40-60
years.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
+++++++++++++++

Data shows the potential of gene therapy for CEP.


SOURCE:

Metabolic correction of CEP
Moreau-Gaudry F, et. al.
Laboratory of Biochemistry
Biology & Molecular Medicine
University of Bordeaux, France
Blood 1995 Mar 15;85(6):1449-53
+++++++++++++++++++++++

Various methods of treatment have been used to treat CEP with
varying success, including erythrocyte transfusion, hydroxyurea, and
splenectomy.

SOURCE:

Treatment of severe congenital erythropoietic
porphyria by bone marrow transplantation
Robert J. Desnick, MD,
Mt. SInai Medical Center
New York, New York
Journal of American Academy of Dermatology
2001;45:279-82
++++++++++++++++


Remarkable clinical variability exists in CEP.

Despite the limited treatments that are currently available, the prognosis is not
invariably poor.

Most patients with EP survive into adulthood, with a life expectancy of 40-60
years.

SOURCE:

Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++++

Treatment of CEP consists of shielding from light, blood transfusions
and splenectomy, but is generally unsatisfactory.

SOURCE:
Transfusion in Gunther's Disease
Gorchein A, et. al.
Imperial College School of Medicine
St Mary's, London, UK.
Biomedical Chromatography
1998 Nov-Dec;
12(6):350-6
+++++++++++++++++

Treatment consists of shielding from light.

SOURCE:
Porphyrins
Biomedicine & Chromatograpy
1998 Nov-Dec;12(6):350-6
++++++++++++++++

Epstein-Barr virus-transformed B-cell lines from patients with CEP provide a
model system for the disease.

SOURCE:
Metabolic correction of CEP
Moreau-Gaudry F, et. al.
Laboratory of Biochemistry
Biology & Molecular Medicine
University of Bordeaux, France
Blood 1995 Mar 15;85(6):1449-53
++++++++++++++++++

Because the clinical severity of CEP is highly variable, ranging from nonimmune
hydrops fetalis to milder, later onset forms with only cutaneous lesions, the
importance of genotyping newly diagnosed infants to select severely
affected patients for BMT(bone marrow transplant) is emphasized.

SOURCE:
Blood
1998 Dec
1;92(11):4053-8
++++++++++++++++++

Studies have shown that three years post-BMT (bone marrow transplant),
recipients had normal hemoglobin, markedly reduced urinary porphyrin
excretion, and no cutaneous lesions with unlimited exposure to sunlight.

SOURCE:

Blood
1998 Dec
1;92(11):4053-8
++++++++++++++++

The long-term effectiveness of BMT (bone marrow transplant) provides the
rationale for future hematopoietic stem cell gene therapy in severely affected
patients with CEP.

SOURCE:
Blood
1998 Dec
1;92(11):4053-8
+++++++++++++++
The long-term biochemical and clinical effectiveness of allogenic bone marrow
transplantation (BMT) has been shown in a severely affected,
transfusion-dependent congenital erythropoietic porphyria (CEP)
patients.

SOURCE:
Blood
1998 Dec
1;92(11):4053-8
++++++++++++++

Treatment of CEP is based on oral carotenoids and sunlight exposition
avoiding.

SOURCE:
The Porphyrias
Meyer, Urs A.
Harrison's Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.
++++++++++++

To minimize skin damage in CEP , doctors recommend avoiding sun exposure
and treating skin infections promptly with antibiotics.

Using sunscreen and taking beta-carotene (a substance related to vitamin A)
may also help in the treatment of CEP.

SOURCE:
Lister Hill National Center for
Biomedical Communications
National Institutes of Health
Department of Health & Human Services
++++++++++++++++

CEP patients treated with blood transfusion and iron chelation: lack of benefit
from oral charcoal.

SOURCE:
CEP Porphyria
Gorchein A, Guo R, Lim
CK, Raimundo A, Pullon
HW, Bellingham AJ.
Department of Clinical Pharmacology,
Imperial College School of Medicine
St Mary's, London, UK
++++++++++++++

Severe cases of CEP may be treated by bone marrow transplantation.

These are potential candidates for somatic gene therapy.

SOURCE:
Metabolic correction of CEP
Moreau-Gaudry F, et. al.
Laboratory of Biochemistry
Biology & Molecular Medicine
University of Bordeaux, France
Blood 1995 Mar 15;85(6):1449-53
++++++++++++++++

Gene Therapy may be used in the future.

SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
+++++++++++++++++

Stem Cell Transplantation may be used in the future.

SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++++++
+++++

Patients with the cutaneous photosensitivity symptoms have difficulty performing
manual labor and many daily activities.

SOURCE:
Congenital Erythropoietic Porphyria
Hubert de Verneuil, Cécile Ged and François Moreau-Gaudry
The Porphyrin Handbook
Volume 14 – Medical Aspects of Porphyrins
Porphyrins
(Chapters 85-96)
++++++++++++

Bone marrow transplantation has been used in some CEP patients.

SOURCE:
Congenital Erythropoietic Porphyria
Hubert de Verneuil, Cécile Ged and François Moreau-Gaudry
The Porphyrin Handbook
Volume 14 – Medical Aspects of Porphyrins
Porphyrins
(Chapters 85-96)
+++++++++++++ ++

Caterpillar bodies, which are eosinophilic linear structures in the roofs of bullae
composed of basement membrane material, are described in blisters of patients
with several forms of porphyria.

Direct immunofluorescence tests reveal linear C3 and immunoglobulin G (IgG)
staining around the superficial vessels and along the dermal-epidermal junction.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
+++++++++++++


CEP occurs in both males and females with approximately equal frequencies.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
++++++++++++

Congenital porphyria is another name for CEP type porphyria.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
+++++++++++++

Fluorescence microscopy of peripheral blood or bone marrow specimens in CEP
is very common.

Red porphyrin fluorescence in intact erythrocytes and erythroid precursor cells
can beobserved in smears of bone marrow specimens illuminated by violet or
blue light against a dark-field background.

The brilliant fluorescence of nuclei in erythrocyte precursor cells is specific for
CEP.

SOURCE:
Erythropoietic Porphyria
Jeanette Hebel Matthews, MD,
Department of Dermatology,
The Skin Surgery Center
eMedicine Journal,
May 22 2002,
Volume 3, Number 5
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Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder
resulting from the deficient activity of the heme biosynthetic enzyme
uroporphyrinogen III synthase (UROS).

Severely affected patients are transfusion dependent and have mutilating
cutaneous manifestations.

Successful bone marrow transplantation has proven curative, providing the
rationale for stem cell gene therapy.

SOURCE:
Molecular Genetic Metabolism
1998 Sep;65(1):10-7
Kauppinen R,
Human Genetics
Mount Sinai School of Medicine
New York
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