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CHILDREN & PORPHYRIA
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Childhood Porphyria
Family Screening
Diagnostic Insights

PORPHYRIA FACTS:
CHILDren & PORPHYRIA

As you will note when researching porphyria in childhood that childhood
porphyria varies dependent upon the type of porphyria.

The acute porphyrias still however remain primarily with an adult onset, or
onset associated with puberty.

But this is not to say that children with parents with acute porphyria should
not be screened and safeguarded against triggers.

Environmental exposure, use of drugs, and even serious childhood illness
can trigger the onset of acute porphyrias in children.

SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++++
Many forms of porphyria have been identified in children and even in infants.

SOURCE:
Porphyrias in children.
Mascaro, J. M.
Pediatrixs and Dermatology
1992; 9(4):371-2.
++++++++++++++++
Porphyrias can present in infants and children.

SOURCE:
Porphyria in childhood
Jensen, J. D. and S. D. Resnick
Seminars in Dermatology
1995; 14(1): 33-9.
+++++++++++++++++
Porphyria can affect infants.

SOURCE:

Zeman, J., P. Martasek, et al.
Porphyria variegata with clinical
manifestations in the first days of life
Cesk Pediatr
1985; 40(1): 8-11.
++++++++++++++++

Identification of asymptomatic children who have inherited these disorders is an
important aspect of the management of the disease in their families and requires
either enzymatic or DNA methods.

SOURCE:
Enzymatic defect in a child with hereditary hepatic porphyria
due to homozygous delta-aminolevulinic acid dehydratase deficiency:
immunochemical studies."
Fujita, H., S. Sassa, et al. (1987).
Pediatrics 80(6): 880-5.
++++++++++++++++


Is childhood onset of porphyria rare?

Clinically overt hepatic porphyria is uncommon in children.

SOURCE:
Hepatic porphyrias in children
Elder, G. H.
Journal of Inherited Metabolic Disease
1997; 20(2): 237-46.
++++++++++++++++
Porphyria has been identified in children.

SOURCE:
Mascaro, J. M. (1992).
"Porphyrias in children."
Pediatr Dermatol
9(4):371-2.
+++++++++++++
AIP has been identified in children.

SOURCE:
Detection of intermittent acute porphyria trait in children.
Nordmann, Y., B. Grandchamp, et al.
Lancet 2
(7978): 201-2.
+++++++++++++++++
A case of acute intermittent porphyria in a 9-year old boy with epilepsy
is reported.

The diagnosis was made only after the third hospitalisation, with the
measurement of enzyme activity and identification of family members with latent
disease.

Adjustment of antiepileptic treatment was necessary 7 months later.

SOURCE:
Acute intermittent porphyria associated with epilepsy in a child.
Chaix, Y., C. Gencourt, et al.
Archives of Pediatrics
1997; 4(10): 971-4.
+++++++++++++++
AIP has been identified in children.


SOURCE:
Acute intermittent porphyria in childhood.
Mays, J. E., Jr. (1967).
J Okla State Med Assoc 60(5): 240-3.
+++++++++++++++++++
There are difficulties of diagnosis of the acute porphyrias in childhood.

SOURCE:
Acute hepatic porphyria as diagnostic problem in childhood
Lernet, P. and M. Strehblow
Padiatr Padol
1976; 11(3): 554-8.
++++++++++++++++++
Quantification of each individual urinary porphyrin enables the diagnosis of
certain disorders which otherwise cannot be achieved by the total porphyrin
determination.

SOURCE:
Age-dependent reference values
of urinary porphyrins in children.
Minder, E. I. and X. Schneider-Yin
Eur J Clin Chem Clin Biochem
1996; 34(5): 439-43.
+++++++++++++++++
In addition to normal concentrations of enzyme activities, the patients are
unusual in presenting before puberty and in having no family history of
porphyria However children do present with childhood porphyria.

SOURCE:
Variant acute intermittent porphyria in a child."
Badcock, N. R., G. D. Zoanetti, et al. (1990).
Clinical Chemistry 1990;
36(5): 812-4.
+++++++++++++++++
Identification of asymptomatic children who have inherited these disorders is an
important aspect of the management of the disease in their families and requires
either enzymatic or DNA methods.

SOURCE:
Hepatic porphyrias in children
Elder, G. H. (1997).
Journal of Inherited Metabolic Disease
20(2): 237-46.
++++++++++++++++++
Current research is exploring the possibility that hepatic porphyria in these
children may be an undescribed self-limited autosomal recessive form of the
disease.

SOURCE:
Genetic Metabolic Disorders of Children
Ronald H. Payne
Faculty of Medicine
Memorial University of Newfoundland
+++++++++++++++++


Porphyria in childhood is an uncommon problem but the recognition of these
disorders is vitally important for affected children.

SOURCE:
Porphyria in childhood.
Jensen, J. D. and S. D. Resnick
Seminars in Dermatology
14(1): 33-9. 1995
+++++++++++++++
Childhood porphyrias typically present with photosensitivity and unique skin
lesions.

SOURCE:
Childhood porphyrias.
Ahmed I.
Department of Dermatology,
Mayo Clinic, Rochester, Minn
Mayo Clin Proc. 2002 Aug;77(8):825-36
+++++++++++++++++
There is clinical evidence of children presenting with porphyria.

SOURCE:
Porphyria in childhood
Jensen, J. D. and S. D. Resnick
Seminars in Dermatology
1995; 14(1): 33-9.
++++++++++++++++++
Acute Hepatic Porphyrias in Children

A child is described with acute intermittent porphyria but having an
erythropoietic component, with disordered metabolism of porphyrins in bone
marrow.

SOURCE:
Hepatic porphyrias in children
Elder, G. H. (1997).
Journal of Inherited Metabolic Disease
20(2): 237-46
++++++++++++++++++
Acute hepatic forms of porphyria is usually uncommon in children.

SOURCE:
Enzymatic defect in a child with hereditary hepatic porphyria
due to homozygous delta-aminolevulinic acid dehydratase deficiency:
immunochemical studies."
Fujita, H., S. Sassa, et al. (1987).
Pediatrics 80(6): 880-5.
+++++++++++++++++


Homozygous variants of AIP, VP and HCP usually present in early childhoodand
have phenotypes of variable severity.

Mutational analysis is currently elucidating the relationship between these
disorders and their autosomal dominant counterparts.

SOURCE:
Hepatic porphyrias in children
Elder, G. H. (1997).
Journal of Inherited Metabolic Disease
20(2): 237-46.
+++++++++++++++++++++
The autosomal dominant acute hepatic porphyrias, acute intermittent
porphyria(AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP),
are rarely present before puberty.

SOURCE:
Hepatic porphyrias in children
Elder, G. H. (1997).
Journal of Inherited Metabolic Disease
20(2): 237-46.
++++++++++++++
Variegate Porphyria in Children

A fatal case of variegate (mixed) porphyria in an 11-year-old Nigerian girl
has been reported.

SOURCE:
Variegate (mixed) porphyria
Durosinmi, M. A., O. Adejuyigbe et al.
Annals of Tropical Paediatrics
1991; 11(1): 95-8.
++++++++++++++++
Homozygous variants of AIP, VP and HCP usually present in early childhood
and have phenotypes of variable severity.

SOURCE:
Enzymatic defect in a child with hereditary hepatic porphyria
due to homozygous delta-aminolevulinic acid dehydratase deficiency:
immunochemical studies."
Fujita, H., S. Sassa, et al. (1987).
Pediatrics 80(6): 880-5.
+++++++++++++++

Childhood AIP
There are reported cases of juvenile AIP.

SOURCE:
Juvenile acute intermittent porphyria with hypercholesterolemia and epilepsy:
Kaplan, P. W. and D. V. Lewis
Journal of Child Neurology
+++++++++++++++++


Seizures in AIP Children

Acute intermittent porphyria in children can present with seizures.

Treatment of seizures in porphyria patients is not without risk.

SOURCE:
Acute intermittent porphyria, seizures, and antiepileptic drugs
Sykes RM.
Institute of Child Health, University of Benin and University of Benin Teaching
Hospital, Benin City, Nigeria.
Seizure 2001
Jan;10(1):64-6
+++++++++++++
How should porphyric children with seizures be treated ?


Phenobarital should be discontinued in children and carbamazepine
substituted.

If the urine becames free of porphobilinogen, the patient will remain well.

SOURCE:

Acute intermittent porphyria, seizures, and antiepileptic drugs
Sykes RM.
Institute of Child Health, University of Benin and University of Benin Teaching
Hospital, Benin City, Nigeria.
Seizure 2001
Jan;10(1):64-6
++++++++++++++
High cholesterol
Childhood AIP is often associated with high cholesterol and seizure activity.

SOURCE: Juvenile acute intermittent porphyria with hypercholesterolemia and
epilepsy:
Kaplan, P. W. and D. V. Lewis
Journal of Child Neurology
1986; 1(1): 38-45.
++++++++++++++


There are clinical reports of brain damage in infants suffering severe attacks of
AIP/

SOURCE:
Severe brain damage through a single attack of acute intermittant porphyria in
infancy
++++++++++++++++
AIP in children who have initially been diagnosed as atypical psychosis in an
inpatient children's psychiatric hospital over a 3-year period before a confirmed
diagnosis of acute intermittent porphyria was made.

SOURCE:
Acute intermittent porphyria in a children's psychiatric hospital.
Boon, F. F. and C. Ellis (1989).
Journal pf the American Academy of Child and Adolescent Psychiatry
1989; 28(4): 606-9
+++++++++++++++++


Paralysis in Childhood Porphyria

Can children with porphyria esperience paresis or quadrapelgia?

Young children have been reported to present with quadrapelgia in associated
with presentation of porphyria.

SOURCE:
Porphyria in childhood
Gatfield, P. D., H. L. Haust, et al.
Developmental and Medical Child Neurology
1972; 14(4): 495-501.
++++++++++++++++++

Remission in children with VP can be achieved with chlorpromazine, high
carbohydrate diet and physiotherapy.

SOURCE:
Variegate (mixed) porphyria
Durosinmi, M. A., O. Adejuyigbe et al.
Annals of Tropical Paediatrics
1991; 11(1): 95-8.
+++++++++++++++++

Two cutaneous hepatic porphyrias are seen in children.

SOURCE:
Enzymatic defect in a child with hereditary hepatic porphyria
due to homozygous delta-aminolevulinic acid dehydratase deficiency:
immunochemical studies."
Fujita, H., S. Sassa, et al. (1987).
Pediatrics 80(6): 880
++++++++++++++++++
Childhood PCT

Porphyria cutanea tarda (PCT), although mainly an adult disease, has been
reported in young children with the autosomal dominant (type II) form of the
disorder.

SOURCE:
Enzymatic defect in a child with hereditary hepatic porphyria
due to homozygous delta-aminolevulinic acid dehydratase deficiency:
immunochemical studies."
Fujita, H., S. Sassa, et al. (1987).
Pediatrics 80(6): 880-5.
+++++++++++++++++
Hepatoerythropoietic porphyria usually develops before the age of 2 years;
patients are homo- or heteroallelic for uroporphyrinogen decarboxylase
mutations, at least one of which is known to cause type II PCT.

SOURCE:
Enzymatic defect in a child with hereditary hepatic porphyria
due to homozygous delta-aminolevulinic acid dehydratase deficiency:
immunochemical studies."
Fujita, H., S. Sassa, et al. (1987).
Pediatrics 80(6): 880-5.
++++++++++++++++++
A girl of 7 years presenting porphyria cutanea tarda was found to have a very
low level of erythrocytary uroporphyrinogen decarboxylase.

SOURCE:
Hereditary porphyria cutanea in children. Enzymatic studies
Doutre, M. S., C. Beylot, et al. (1981).
Annals of Dermatology and Venereology
108(10): 751-7.
++++++++++++++++++
PCT has been identified in an 8 year-old boy.

SOURCE:
Welland, F. H. and R. A. Carlsen
Porphyria cutanea tarda in an 8-year-old boy.
Dermatology
1969; 99(4): 451-4.
+++++++++++++++++
The onset of PCThas been found in young children.

Clinical identification of PCT was made in a 6 year-old girl.

SOURCE:
Porphyria cutanea tarda in a 6-year-old girl
Peschlow, I.
Dermatol Monatsschr
1979; 165(6): 425-31.
+++++++++++++++++
PCT has been identified in a 7 year old girl.

SOURCE:
Rogers, M., K. R. Kamath, et al.
Porphyria cutanea tarda in a seven year old child.
Rogers, M., K. R. Kamath, et al.
Australas Journal of Dermatology
1984; 25(3): 107-12.
+++++++++++++++++

Porphyria cutanea tarda (PCT), although mainly an adult disease, has been
reported in young children with the autosomal dominant (type II) form of the
disorder.

SOURCE:

Hepatic porphyrias in children
Elder, G. H. (1997).
Journal of Inherited Metabolic Disease
20(2): 237-46.
+++++++++++++++
Familial PCT in children

The case of familial porphyria cutanea tarda (FPCT) in a 7-year- old girl has
been reported.

The condition was exacerbated by low dose of hydroxychloroquin, but controlled
by venesection.

The favorable prognosis of FPCT should be further established by long-term
prospective studies.

SOURCE:
Familial porphyria cutanea tarda in a 7-year-old girl.
D Lambert, D. G., F. Beer, et al.
Dermatological
1988 176(4): 202-4.
++++++++++++++++
PCT has been identified in young children of all ages.

SOURCE:
Rogers, M., K. R. Kamath, et al.
Porphyria cutanea tarda in a seven year old child.
Rogers, M., K. R. Kamath, et al.
Australas Journal of Dermatology
1984; 25(3): 107-12.
++++++++++++++++
Ocular problems in children

A case of a 9-year-old child with congenital porphyria who
had developed necrotizing scleral ulceration in both eyes in addition to severe
cutaneoushypersensitivity and facial disfigurement
has been identifed.

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

Hepatoerythropoietic porphyria is a rare variant of porphyria cutaneatarda and
has been identified in young children.

SOURCE:
Hepatoerythropoietic porphyria: a variant of childhood-onset porphyria cutanea
tarda.
Lim, H. W. and M. B. Poh-Fitzpatrick
J Am Acad Dermatology
1984;
11(6): 1103-11.
+++++++++++++++++
EPP in children

Erythropoietic protoporphyria (EPP), a recently described form of
porphyria, often remains unrecognized.

SOURCE:

Piotte, M., A. Hassoun, et al.
Erythropoietic protoporphyria in a child.
European Journal of Pediatrics
1989; 148(6): 507-9.
+++++++++++++++
Clinical features, quantitative determinations of porphyrins in blood, urine and
stools, ferrochelatase activity and cutaneous histopathology helped to confirm
the diagnosis of EPP.

SOURCE:

Piotte, M., A. Hassoun, et al.
Erythropoietic protoporphyria in a child.
European Journal of Pediatrics
1989; 148(6): 507-9.
++++++++++++++++

CEP in children

Two brothers, aged 5 and 2 years, with typical features of congenital
erythropoietic porphyria have been clinically identified.

SOURCE:
Herrera Saval, A. and A. Moruno Tirado
"Congenital erythropoietic porphyria affecting two brothers.
British Journal of Dermatology
1999; 141(3): 547-50
+++++++++++++++
Phototherapy has been used in a child with CEP and cutaneous reaction.

SOURCE:
"Phototherapy sequela in a child with congenital erythropoietic porphyria.
Soylu, A., S. Kavukcu, et al.
European Journal of Pediatrics
1999; 158(6): 526-7.
+++++++++++++++++++



Hematin use in children

Hematin has been used in the treatment of protoporphyric liver disease in
children.


SOURCE:

Potter, C., N. Tolaymat, et al.
Hematin therapy in children with
protoporphyric liver disease.
Potter, C., N. Tolaymat, et al.
Journal of Pediatrics Gastroenterology & Nutrition
1996; 23(4): 402-7.
+++++++++++++

Propofol has been proven effectice in surgery with a child with AIP.

SOURCE:
Safe use of propofol in a child with acute
intermittent porphyria.
Christian, A. S.
Anaesthesia
1991; 46(5): 423-4.
+++++++++++++++++

The frequent observation of children presenting repeatedly in the emergency
room with undiagnosed abdominal pain suggested that established age
guidelines for considering hepatic porphyrias as a diagnosis should be
reviewed.

SOURCE:
Ronald Payne Ph.D
Faculty of Medicine
Memorial University of Newfoundland
+++++++++++++++++



Children can experience symptoms of Harderoporphyria.

Anemia and jaundice are usually seen in addition to the other normal symptoms
of acute hepatic porphyria.

SOURCE:
Harderoporphyria
Disease Resource Book
Alliance Medical Systems
1998
+++++++++++++++

Protoporphyria in children has been identified and patients treated
with hematin.

SOURCE:
Potter, C., N. Tolaymat, et al.
Hematin therapy in children with
protoporphyric liver disease.
Potter, C., N. Tolaymat, et al.
Journal of Pediatrics Gastroenterology & Nutrition
1996; 23(4): 402-7.
+++++++++++++++++++


Genetic metabolic disorders in children

Hepatic porphyrias are a group of metabolic disorders characterized by
intermittent abdominal pains, vomiting
and confusion.

Patients have a life-threatening sensitivity to certain medications.

As these conditions are
inherited Mendelian traits, susceptibility is present from the FETAL
stage but nevertheless it has generally been
considered that individuals at risk do not become symptomatic until
adulthood.

RONALD H. PAYNE PhD
Faculty of Medicine
Memorial University of Newfoundland
++++++++++++++++++++



The standard laboratory procedures for diagnosing these disorders from urine
analysis were found to be inappropriate for children.

SOURCE:
Ronald H. Payne PhD
Faculty of Medicine
Memorial University of Newfiundland
+++++++++++++++++

A new protocol has been developed in Dr. Payne's laboratory and has permitted
the
diagnosis of hepatic porphyria in approximately 10 per cent of children
with idiopathic recurrent abdominal pain.

These patients are usually females in the eight to 11 age group, but the
two youngest were four months (male)
and 18 months (female).
SOURCE:
Ronald H. Payne PhD
Faculty of Medicine
Memorial University of Newfiundland
+++++++++++++++++

The 18 month old female was subsequently shown to belong to a family with a
history
of undiagnosed abdominal pain, psychotic episodes and unexplained
postsurgical deaths, all characteristic of
acute intermittent porphyria.
SOURCE:
Ronald H. Payne PhD
Faculty of Medicine
Memorial University of Newfiundland
+++++++++++++++++


Surprisingly, most of our patients have no family history typical of
porphyria and there is evidence that these
children improve as they pass through puberty, which is not the situation
for classical hepatic porphyria.

SOURCE:
Ronald H. Payne PhD
Faculty of Medicine
Memorial University of Newfiundland
+++++++++++++++++


Current research is exploring the possibility that hepatic porphyria in these
children may be an undescribed self-limited
autosomal recessive form of the disease.

SOURCE:
Ronald H. Payne PhD
Faculty of Medicine
Memorial University of Newfiundland
+++++++++++++++++

FAMILY SCREENING

Only one form of porphyria is acquired.

All others are inherited.

SOURCE:
Postgraduate. Medicine.
86: 295, 1989
++++++++++++

There are eight forms of porphyria that a p[erson can inherit.

Along with the eight main types of pophyria are many sub-types and various
mutations of a form.

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


Identification and counselling of at risk relatives of acute porphyria patients is
essential.

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.
+++++++++++

Identifying family members of porphyhria patients who may be carriers is
essential.

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



The best time for screening is at the earliest opportunity, starting with close
relatives.

If a parent is diagnosed with acute porphyria, children should be tested
as soon as is practicable after birth.

Family screening usually will need to be carried out at a specialist reference
laboratory.

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

Genetic counseling may be of benefit to prospective parents with a family
history of any type of porphyria.

SOURCE:
Medline
U.S. National Library of Medicine,
8600 Rockville Pike,
Bethesda, MD 20894
+++++++++++


It is important to collect as much information as possible regarding the medical
histories of parents, aunts and uncles and grandparents.

A strong family history can help identify the type of porphyria and the porphyric
reactions experienced within a given mutation.

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

Rather than concealing the fact of having porphyria.patients should also ensure
that their close family and friends know about their condition.

SOURCE:
The Canadian Porphyria Foundation Inc.
Neepawa, Manitoba, Canada
++++++++++


Newly diagnosed patients may have several relatives (close and distant)
who will also have inherited the altered gene responsible for the type of
porphyria in their family.

These relatives may be unaware that they have inherited an acute porphyria
and are therefore at risk of developing an acute attack of porphyria.

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

By early testing of children of a porphyria patient, it can help safeguard the at
risk carriers from experiencing an acute attack.

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

Since certain types of porphyria are genetic diseases, investigations should also
be carried out on children and blood relatives of affected people...

SOURCE:
British Liver Trust
United Kingdom
+++++++++++



If a parent is diagnosed with acute porphyria, children should be tested
as soon as is practicable after birth.

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

There can be dual varieties of porphyria in the same patient.

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

If two or more people in the same family are affected with the disease they will
all have the same type of porphyria.

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

Follow-up should include counselling on lifestyle modification involving
avoidance of alcohol, smoking and known porphyrogenic drugs and diet.

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



Family screening usually will need to be carried out at a specialist reference
laboratory.

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


Patients should be counselled about precipitating factors.

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

All people should have a wellness plan.

It should start with small steps.

Keep the goals simple.

Keep records to record progress as you go.

Involve others (caretakers) in your plans.

SOURCE:
Healthy Lifestyle
Lawrence C. Perlmuter
Department of PSychology
Finch University of Health Sciences
Chicago Medical School
+++++++++

Patients should wear a Medic-Alert bracelet or necklace which would provide a
warning against administration of dangerous drugs including anaesthetics in an
emergency situation.

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

It is NOT advisable to be a blood donor.

Most blood banks do NOT accept patients with any type of an inherited disease
as a donor.

Donated blood from porphyria patients can NOT be used in other patients.

In rare cases, some blood banks will accept persons as donors for strictly
research purposes.

All porphyria patients must fully disclosed their medical condition BEFORE a
blood collection is made.

SOURCE:
Dr. Claus Pierach MD
Porphyria Specialist
Abbott-Northwestern Hospital
University of MInnesota School of Medicine
Minneapolis, MInnesota
++++++++++ ++++

The best time for screening is at the earliest opportunity, starting with close
relatives.

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

Genetic counseling is available but most patients prefer to go about their lives
in a normal fashion and deal with their family planning in their own personal
fashion.

SOURCE:
The Canadian Porphyria Foundation Inc.
Neepawa, Manitoba, Canada
+++++++++++++

Newly diagnosed patients may have several relatives (close and distant) who
will also have inherited the altered gene responsible for the type of porphyria in
their family.

These relatives may be unaware that they have inherited an acute porphyria
and are therefore at risk of developing an acute attack of porphyria.

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

DIAGNOSTIC INSIGHTS IN THE PORPHYRIAS


The porphyrias are uncommon disorders of haem biosynthesis and their
effective management requires prompt and accurate diagnosis

SOURCE:
Front line tests for the investigation of suspected porphyria.
A C Deacon, G H Elder.
Journal of Clinical Pathology.
July 2001
v54 i7 p500.
+++++++++++++

Diagnosis of porphyria is based on a high index of suspicion and appropriate
investigation.

SOURCE:
Porphyria: reexamination of psychiatric implications.
Burgovne K, Swartz R, Ananth J.
Harbor-UCLA Medical Center, Torrance 90509, USA.
Psychother Psychosom 1995;64(3-4):121-30
+++++++++++

Porphyria patients are often are dismissed for years as "functional", "mentally
ill", or "drug seekers".

SOURCE:
Medicine
71: 1, 1992.
+++++++++

The porphyrias are widely misdiagnosed.

SOURCE:
Postgraduate Medicine
86: 295, 1989
+++++++++



The importance of early diagnosis must be emphasized, in order to avoid certain
medicaments, stress situations etc., which can cause an acute attack of
porphyria.

SOURCE:
Acute hepatic porphyria as diagnostic problem in childhood
Lernet, P. and M. Strehblow
Padiatr Padol
1976; 11(3): 554-8.
+++++++++++

Often the proper diagnosis of porphyria is delayed because the symptoms of
porphyria are nonspecific.

SOURCE:
Dr. Robert Johnson M.D
++++++++++

The recognition of the overt disorder with extrahepatic manifestations depends
on the demonstration of biochemical abnormalities due to these primary defects
and compensatory hepatic overexpression of hepatic delta-aminolaevulinic
acid synthase in the acute porphyrias.

SOURCE:
Erythropoietic and hepatic porphyrias.
Gross U, Hoffmann GF, Doss MO.
Division of Clinical Biochemistry,
Faculty of Medicine
Philipps University, Marburg, Germany.
Journal of Inherited Metabolic Disease
2000 Nov;23(7):641-61
+++++++++++

The acute porphyrias pose a diagnostic quagmire brvsudr the porphyrias
resemble so many other more common diseases.

SOURCE:
Psychotherapy Psychosomanics
1995;64(3-4):121-30
Porphyria: reexamination of psychiatric implications.
Burgovne K, Swartz R, Ananth J.
Harbor-UCLA Medical Center,
Torrance 90509.
+++++++++


Physicians are taught that the hepatic porphyrias should be suspected in every
patient with acute or episodic neurological or psychiatric distrubances.

In the four varieties of mainline hepatic porphyria the clinician should see
porphyrins in urine and/or stool during the attacks, but not necessarily between
attacks.

It is importrant to note that there is often hypercholesterolemia, hyperlipidemia,
glucose interlerance and increased CSF protein levels.

A definitive diagnosis requires measuring PBG deaminase activity in
erythrocytes.

Because the attacks are episodic but the lesion producing the attacks is fixed,
the neuropathy is usually a waxing and waning with permanent changes.

This type of PN thus is different from that usually seen in MS and will not shown
up in basic beurolgical testing,


SOURCE:
Introduction to the Porphyrias
Emergency Medical Guidebook
pp1011-13.
1993
Mosby
++++++++++

Diagnostic criteria are poorly-defined.

SOURCE:
Medicine 71: 1, 1992.
++++++++


Acute porphyrias are rarely suspected.

SOURCE:
Acute intermittent porphyria as a cause of acute respiratory failure.
Oomman A, Gurtoo A.
Department of Medicine,
JIPMER, Pondicherry.
Journal of Indian Medicine Associatopn
2002 Jan;100(1):44, 46
+++++++++++++

The acute hepatic porphyrias require early diagnosis to avoid life-threatening
complications.


SOURCE:

Erythropoietic and hepatic porphyrias.
Gross U, Hoffmann GF, Doss MO.
Division of Clinical Biochemistry,
Faculty of Medicine
Philipps University, Marburg, Germany.
Journal of Inherited Metabolic Disease
2000 Nov;23(7):641-61
++++++++++++++


A 28 year old woman was admitted to intensive care with respiratory paralysis.

Acute hepatic porphyria of the HCP type was diagnosed.

This was associated with with epsilepsy in the history of the patient.

From the spectrum of 46 WRONG diagnoses a three-dimensional symptom
complex of abdominal, neuropsychiatric and cardiovascular complaints
and findings could be documented.

The patient was ill for a total of more than 128 weeks.=

She has been admitted to 14 different hospitals on 21 different occasions.

She had undergone repeated surgery without any improvement of her
complaints.

Porphyria diagnosis HAD NEVER BEEN CONSIDERED previously!!!"

SOURCE:
Hereditary Coproporphyria
KH Pfluger et al.
Dtsch Med Wochenschr
May 21, 1982
+++++++++++



n the absence of factors that precipitate an attack, many individuals may go
undiagnosed.

SOURCE:
American Journal of Clinical Pathology,
Vol. 103, No. 6, June 1995.
+++++++++++

Diagnosis is based on a high index of suspicion and appropriate investigation.

SOURCE:
Journal of Psychotherapy
1995;
64(3-4):121-30
"Porphyria: reexamination of psychiatric implications."
Burgovne K. MD et al.
Harbor-UCLA Medical Center,
orrance 90509, USA.
+++++++++++


It is important to have early diagnosis of acute intermittent porphyria (AIP) in
patients with atypical presentation.

SOURCE:
Diagnostic dilemmas in acute intermittent porphyria.
Periasamy V, al Shubaili A, Girsh Y.
Department of Neurology
Ibn Sina Hospital
Safat, Kuwait.
Medical Principles & Practice
2002 Apr-Jun;11(2):108-11
++++++++++++


The porphyrias are widely
misdiagnosed.

SOURCE:
Postgraduate. Medicine. 86: 295, 1989
++++++++++++


The "glucose effect" in acute hepatic porphyrias and in experimental porphyria.

SOURCE:
Doss M, Verspohl F.
++++++++++

Diagnostically all forms of porphyria can be overlooked.

SOURCE:
Medicine
71: 1, 1992.
++++++++++++

Porphyria is diagnosed through tests on blood, urine, and stool.

SOURCE:
Porphyria
NIDDK
NIH Publication No. 01-4632
February 2001
++++++++++++++

Ideally, the laboratory diagnosis of porphyria should be based on either the
identification of the DNA structure of the defective gene or the measurement
of the activity of the specific enzyme system that is affected.

These procedures are not as yet available on a routine basis.

As a result, the laboratory diagnosis still depends primarily on the tests which
will identify abnormal concentrations of either the precursors of porphyrins or the
porphyrins themselves or both.

SOURCE:
The Canadian Porphyria Foundation Inc.
Neepawa, Manitoba, Canada
+++++++++++

Vomiting associated with severe constipation mimics mechanical intestinal
obstruction.

SOURCE:
Acute Intermittent Porphyria
Differential Diagnosis of Acute Pain
Stanley L.Wiener, M.D. et. all
McGraw-Hill Inc. 1993
+++++++++++++

Diagnosis of porphyria can be difficult.

This is particularly true when the patient has not been recently exposed, and
may no longer be exhibiting strong symptoms or biochemical abnormalities; yet
P450 levels may remain low enough to allow transient porphyrias on exposure to
common chemicals.

SOURCE:
Porphyria
Greek for "Purple Urine"
Orthomolecular Medicine
++++++++++

Diagnosis of porphyria is critically dependent on the clinician first suspecting it
as a possible cause of a patient's symptoms and then ordering the specific
essential diagnostic tests.'

SOURCE:
Environmental Chemical Exposures and Disturbances of Heme Synthesis
Claus Pierach M.D. et. al.
Department of Medicine
University of Minnesota School of Medicine
Abbott Northwestern Hospital
Minneapolis, Minnesota
+++++++++++



.

Diagnostically all forms of porphyria can be overlooked.

SOURCE:
Medicine 71: 1, 1992.
+++++++++++

The porphyrias are very under-diagnosed.

SOURCE:
Postgraduate. Medicine. 86: 295, 1989
+++++++++++



The signs and symptoms of porphyria when present, may be ascribed to more
common causes of abdominal pain or neurologic dysfunction.

SOURCE:
American Journal of Clinical Pathology,
Vol. 103, No. 6, June 1995.
+++++++++++

The acute porphyria mimic a variety of commonly occurring disorders and thus
poses a diagnostic quagmire.
.
SOURCE:
Journal of Psychotherapy and Psychosomatics
1995;
64(3-4):121-30
"Porphyria: reexamination of psychiatric implications."
Burgovne K, et. al
Harbor-UCLA Medical Center,
Torrance CA.
+++++++++++

The symptoms of the acute porphyrias are similar to many other diseases.

Because of so many similarities of the disease to other more well known
diseases, it is difficult to determine if the disorder is one as rare as porphyria.

SOURCE:
The Porphyrias
The Challenge of Diagnosis
United Health Services
1996
++++++++

The symptomatic manifestations of porphyria, particularly the noncutaneous
manifestations, are often nonspecific and may not be accompanied by
supporting physical signs.


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
+++++++++++


There are multidisciplinary approaches regarding the etiology of psychiatric
disorders.

Differential diagnosis provides not only the quantitative but also the qualitative
increase within the essence of psychic life and psychiatric disorders pointing out
the integrity of biological, psychological and social in a human being.

Many somatic diseases are followed by the psychiatric and neurological
symptoms.

Acute intermittent porphyria (AIP) is one of these diseases.

AIP is manifested with a wide spectrum of clinical manifestations and it is called
"the great imitator".

AIP attacks are characterized by abdominal pains,neurologic and psychiatric
disorders.

The most important is to diagnose the disease at the onset.

Without early diagnosis many severe complications may occur, even the lethal
outcome is possible.

SOURCE:
Vojnosanit Pregl
2001 Jan-Feb;
58(1):95-9
Acute porphyria as a problem in differential diagnosis
Preradovic M, et. al.
++++++++++++++

The diagnosis of porphyria is often difficult to make, in part due to the fact that
the symptoms can mimic many other clinical states and the fact that most
doctors have very limited personal experience with it.

SOURCE:
The Canadian Porphyria Foundation Inc.
Neepawa, Manitoba, Canada
+++++++++++


It is generally not difficult to document or confirm a diagnosis of porphyria when
a patient is having symptoms.

SOURCE:
Primer on Laboratory Testing for Porphyrias
Dr. Karl E. Anderson
Porphyria Laboratory
University of Texas Medical Branch
Galveston, TX
++++++++++++

The inheritance patterns of the disorders of porphyria are complex.

SOURCE:
Childhood porphyrias.
Ahmed I.
Department of Dermatology,
Mayo Clinic, Rochester, Minn
Mayo Clin Proc. 2002 Aug;77(8):825-36
++++++++++++

Proper diagnosis is often delayed because the symptoms are nonspecific.

Skin manifestations can include burning, blistering and scarring of sun-exposed
areas.

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

Many porphyria patients experience mild attacks which are most likely more
common that severe acute attacks, but fail to be detected in the standard
enzyme "normal ranges".

SOURCE:
Medicine 71: 1, 1992.
++++++++++

Patients often do not exhibit definite physical findings.

Patients often have numerous vague symptoms, which can be acute.

SOURCE:
The Porphyrias
The Challenge of Diagnosis
United Health Services
1996
++++++++++


As an aid in the diagnosis and management of porphyria there has been
developed methods to fractionate and quantifyplasma porphyrins and have
evaluated its use in various porphyrias.

SOURCE:
Clinical Chemistry
1999 Jul;45(7):1070-6
++++++++++++

The porphyrias are among the most difficult diseases to diagnose correctly.

SOURCE:
The Porphyrias
The Challenge of Diagnosis
United Health Services
1996
+++++++++

Accurate measurement of urinary PBG is an essential examination in
the diagnosis of acute porphyria.

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




Patients exhibit photosensitivity, red urine, hypertrichosis, and characteristic
serum and urine porphyrin profiles in the majority of cases.

Different types of porphyria have different signs and symptoms however.


SOURCE:
Pediatric Dermatology
11(3): 216-21
1994
"Neurologic disease in a childwith hepatoerythropoietic porphyria." .
Parsons, J. L., E. E. Sahn, et al.
++++++++++++++

There is some diagnostic criteria, but to date such diagnostic criteria is
poorly-defined.

SOURCE:
The Porphyrias
The Challenge of Diagnosis
United Health Services
1996
++++++++++


The increased metabolites upstream of the porphyria enzymatic defect are
excreted into urine and faeces.

The diagnosis is based on their evaluation.

SOURCE:
Erythropoietic and hepatic porphyrias.
Gross U, Hoffmann GF, Doss MO.
Division of Clinical Biochemistry,
Faculty of Medicine,
Philipps University,
Marburg, Germany.
Journal of Inherited Metabolic Disease
2000 Nov;23(7):641-61
+++++++++++

Differential diagnosis is the determination of which two or more diseases with
similar symptoms is the one from which a patient is suffering from based on an
analysis of the clinical data.

SOURCE:
Dr. Robert Johnson
++++++++++++

Many porphyria cases may still be unrecognized or misdiagnosed as another
porphyria.

SOURCE:
Maureen Poh-Fitzpatrick, MD
Department of Internal Medicine
Division of Dermatology
University of Tennessee
College of Medicine
++++++++++





An exact classification is often difficult since the porphyrias might reveal
unspecific clinical symptoms and/or overlapping biochemical features.

SOURCE:
Diagnosis and treatment of the acute porphyrias: an interdisciplinary challenge.
Poblete Gutierrez P, et. al.
Department of Dermatology and Allergology
University Clinic of the RWTH Aachen
Aachen, Germany
Skin, Pharmacology &
Applied Skin Physiology
2001 Nov-Dec;14(6):393-400
++++++++

The porphyrias used to be considered very rare conditions.

Porphyria used to be only discoverable during an acute attack when porphyrin
excretion was markedly excessive.

With the new and more available sensitive testing procedureswe now have a
greatly increased porphyria population.

SOURCE:
Susceptibility to Environmental Chemicals
The International Congress on Hazardous Waste
Atlanta Georgeia
1995
Dr. William E. Morton M.D.
+++++++++++

Children have been initially diagnosed as atypical psychosis in an inpatient
children's psychiatric hospital before a confirmed AIP diagnosis.


SOURCE:
Journal of the American Academy of Children
and Adolescent Psychiatry
28(4): 606-9
1989
"Acute intermittent porphyria in a children's psychiatric hospital."
Boon, F. F. and C. Ellis
+++++++++++



The acute hepatic porphyrias require early diagnosis to avoid life-threatening
complications.


SOURCE:
Erythropoietic and hepatic porphyrias.
Gross U, Hoffmann GF, Doss MO.
Division of Clinical Biochemistry,
Faculty of Medicine
Philipps University, Marburg, Germany.
Journal of Inherited Metabolic Disease
2000 Nov;23(7):641-61
+++++++++++



Advances in molecular biology have led to the availability of a number of
porphyrin enzymes for routine testing.

The results are interesting and suggest abnormal porphyrin metabolism may be
more prevalent than is currently thought.

SOURCE:
Fatigue syndromes revisited:
the possible role of porphyrins.
Downey, D. C. 1994.
Medical Hypotheses
42:285-90..
++++++++++

The newly available and much more sensitive blood-cell enzyme tests have
naturally resulted in greatly increased population frequency estimates


Up from 4% of the world population a century ago, it is found that now greater
than 9% of the population have porphyria."

SOURCE:
Susceptibility to Environmental Chemicals
The International Congress on Hazardous Waste
Atlanta Georgeia
1995
Dr. William E. Morton M.D.
+++++++++++

Early diagnosis is of vital importance since avoiding precipitating factors is the
major treatment of the disease."

SOURCE:
Dr. Y. Floderus MD et al.
Medical School
Karolinska Institute,
Stockholm, Sweden
++++++++++

Unknown numbers of cases of porphyria may still be unrecognized or
misdiagnosed as another porphyria.

SOURCE:
Medicine Journal
August 6 2001
Volume 2, Number 8
++++++++++



While it is important not to use the unsafe drugs in acute porphyric patients, it is
also imperative to look or this diagnosis in cases where these drugs
produce unprecedented drug reactions.

SOURCE:
Journal of Psychotherapy and Psychosomatics
1995;
64(3-4):121-30
"Porphyria: reexamination of psychiatric implications."
Burgovne K, et. al
Harbor-UCLA Medical Center,
Torrance CA.
+++++++++++

The various syndromes that are classified under the collective name of porphyria
are differentiated from each other on the basis of a combination of clinical
symptoms and abnormal biochemical findings in blood, urine & stool.

On the basis of our current understanding of molecular biology this classification
is somewhat unsatisfactory and illogical.

Theoretically it would be preferable to classify the porphyrias on the basis of the
specific gene or enzyme defects giving rise to the abnormal prophyrin
concentrations causing these abnormal clinical and biochemical findings.

Unfortunately, much of the gene and enzyme studies have been carried out
using ultrasophisticated techniques in specialized university research
laboratories and are not yet available for common diagnostic clinical use.

SOURCE:
The Canadian Porphyria Foundation Inc.
Neepawa, Manitoba, Canada
++++++++++++

The porphyrias are very under-diagnosed.

SOURCE:
Postgraduate Medicine
86: 295, 1989
+++++++++



There is at this time no cure for any of the types of porphyria.

However, all forms of porphyria are treatable.

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

All forms of porphyria are treatable.

SOURCE:
Medicine
71: 1, 1992.
+++++++++++

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