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PORPHYRIA FACTS: CO-EXISTING MEDICAL CONDITIONS
Can common dieases overlap in their presentation?
There is a final common pathway that allows many diseases to overlap in their
presentation.
For years this pathway was never identified for it was unknown.
SOURCE:
The porphyrin pathway: the final common pathway?
Downey DC.
Oral Pathology Department
Gentle Dental, Beaverton, Oregon
Med Hypotheses
2002 Dec;59(6):615-21.
++++++++++++++++++++++
Hypercholesterolaemia
Hypercholesterolaemia has been described in acute hepatic porphyria.
Serum cholesterol is usually persistently raised.
Serum triglyceride may be normal.
Lipoprotein cholesterol ultraconfrigugation usually shows an increase.
Sometimes there will be additional abnormalities of plasma proteins."
A.G.L. Whitelaw
St. Mary's Hospital London UK
"Acute porphyria, hypercholesterolaemia"
page 407 Short Reports
+++++++++++
Cirrhosis
Cirrhosis has been long associated with PCT.
SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++++++++++
Diabetes
High cholesterol is commonly associated with porphyria
patients with co-extisting diabetes.
SOURCE:
Prevalence of hyperlipidemia in persons with hypertension and/or diabetes
mellitus
Assmann G & Schulte H.
American Heart Journal
1988; 116: 1713 24.
++++++++++++++
There is evidence that a relationship between porphyria and epsilepsy exists.
In HCP 4 out of 6 report cases of epsilepsy.
Therefore clinical presentation of porphyria syndrome ccompanied by the
epsilepsy seems to be articularly frequent in HCP.
It is well known that the children are more prone to seizure activity.
SOURCE:
Hereditary Coproporphyria
Journal of Neurology
1984
231: 99-101
+++++++++++++
Hepatitus
****SEE SEPARATE FILE ASSOCIATED DISEASES - HEPATITUS
Medical research has revealed that other more common diseases have
a definite association with some types of the porphyrias.
It has long been known that high cholesterol, low thyroid function, liver cancer,
and diabetes are all associated with the acute porphyrias.
Hepatitus has long been associated with PCT.
SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++++++++++
The clinical manifestations of AIP include paroxysms of acute abdominal pain,
neurologic changes and paresis.
SOURCE:
Prognosis of acute porphyria
Kauppinen R, Mustajoki P.
Medicine. 1992;71:1-13
++++++++++++++++
Catecholamine
Catecholamine levels can increase up to 10-fold during an exacerbation of AIP.
SOURCE:
Hypertension and renal disease in acute intermittent porphyria
Andersson C, Lithner F.
Journal of Internal Medicine
1994;236:169-175.
+++++++++++++
Fatty Liver
Fattty liver or NASH (non-alcoholic-steato hepatitus) is often a co-existing
condition with the hepatic porphyrias.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++
Hemochromatosis
It has long been thought that the inheritance of one or more human leukocyte
antigen (HLA)-linked hemochromatic genes may contribute to iron overload in
diseases other than genetic hemochromatosis (GH).
Porphyria cutanea tarda (PCT) has always been a prime candidate for this
association.
SOURCE:
Mutations in the Hemochromatosis Gene, Porphyria Cutanea Tarda, and Iron
Overload
George H. Elder, M.D.
Mark Worwood, Ph.D.
January 1998 •
Volume 27 • Number 1
++++++++++++++
It has been found that PCT patients may have associated hemochromotosis.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++
Patients with PCT and hemochromatosis present with fragile skin and
subepidermal bullae and often show some evidence of hepatocyte damage,
although cirrhosis is unusual.
SOURCE:
Mutations in the Hemochromatosis Gene, Porphyria Cutanea Tarda, and Iron
Overload
George H. Elder, M.D.
Mark Worwood, Ph.D.
January 1998 •
Volume 27 • Number 1
++++++++++++++
Mild to moderate iron overload is present in 60% to 70% of PCT cases with
hemochromatosis.
SOURCE:
Mutations in the Hemochromatosis Gene, Porphyria Cutanea Tarda, and Iron
Overload
George H. Elder, M.D.
Mark Worwood, Ph.D.
January 1998 •
Volume 27 • Number 1
++++++++++++++
PCT seems to be provoked in most patients by alcohol, estrogens, viruses
(notably hepatitis C virus and human immunodeficiency virus), or a combination
of these factors.
It is rarely associated with clinically overt GH.
Mutations in the Hemochromatosis Gene, Porphyria Cutanea Tarda, and Iron
Overload
George H. Elder, M.D.
Mark Worwood, Ph.D.
January 1998 •
Volume 27 • Number 1
++++++++++++++
The underlying metabolic abnormality is decreased activity of uroporphyrinogen
decarboxylase, one of the enzymes of the heme biosynthesis, in the liver.
Clinical and experimental studies suggest that this enzyme is reversibly
inactivated by an iron-dependent process.
Depletion of hepatic iron stores by venesection, or by other means, leads to
clinical remission and reversal of the metabolic defect, even in those without iron
overload.
SOURCE:
Mutations in the Hemochromatosis Gene, Porphyria Cutanea Tarda, and Iron
Overload
George H. Elder, M.D.
Mark Worwood, Ph.D.
January 1998 •
Volume 27 • Number 1
++++++++++++++
Although development of PCT in response to hepatocyte damage by agents is
believed to be determined by inherited factors, few genes that contribute to this
predisposition have been identified.
SOURCE:
Mutations in the Hemochromatosis Gene, Porphyria Cutanea Tarda, and Iron
Overload
George H. Elder, M.D.
Mark Worwood, Ph.D.
January 1998 •
Volume 27 • Number 1
++++++++++++++
Most PCT patients have the sporadic (type I) form of PCT in which the enzyme
defect is restricted to the liver and in which causative mutations at the
uroporphyrinogen decarboxylase locus have been excluded.
SOURCE:
Mutations in the Hemochromatosis Gene, Porphyria Cutanea Tarda, and Iron
Overload
George H. Elder, M.D.
Mark Worwood, Ph.D.
January 1998 •
Volume 27 • Number 1
++++++++++++++
Even in the 20% or so of patients from families showing autosomal dominant
inheritance of half-normal enzyme activity in all tissues (familial or type II PCT),
further inactivation of the enzyme in the liver seems necessary for clinical
expression.
SOURCE:
Mutations in the Hemochromatosis Gene, Porphyria Cutanea Tarda, and Iron
Overload
George H. Elder, M.D.
Mark Worwood, Ph.D.
January 1998 •
Volume 27 • Number 1
++++++++++++++
About 75% of patients with genetic hemochromatosis carry the HLA-A3 allele
compared with 25% of controls.
Some studies of the frequency in PCT of this and other alleles defining the
ancestral hemochromatosis haplotype (HLA-A3, D6S265-1, D6S105-8,
D6S1260-4) have shown an association.
SOURCE:
Mutations in the Hemochromatosis Gene, Porphyria Cutanea Tarda, and Iron
Overload
George H. Elder, M.D.
Mark Worwood, Ph.D.
January 1998 •
Volume 27 • Number 1
++++++++++++++
HFE mutations confer susceptibility to PCT.
SOURCE:
Mutations in the Hemochromatosis Gene, Porphyria Cutanea Tarda, and Iron
Overload
George H. Elder, M.D.
Mark Worwood, Ph.D.
January 1998 •
Volume 27 • Number 1
++++++++++++++
Hypercholesterolemia
Is high cholesterol commonly associated with AIP?
Hypercholesterolaemia is found in human hepatic porphyria mostly during acute
attacks,often falling to near normal levels during remission.
SOURCE:
Hypertension in patients with AIP
C. Andersson et. al.
Journal of Internal Medicine 1994
236: 169-175
+++++++++++++++++++++++
In blood serum studies in AIP patients there is often found hypercholesterolemia.
SOURCE:
The Porphyrias
Clinical Laboratory Studies
Biochemistry Department
School of Medicine
+++++++++
Hypertension
Hypertension is more common in "manifest" AIP patients -- those who have
shown evidence of the disease -- than in individuals with latent disease or in
control groups.
SOURCE:
Prognosis of acute porphyria
Kauppinen R, Mustajoki P.
Medicine. 1992;71:1-13
+++++++++++++++++++
Chronic hypertension is the most significant disorder.in acute porphyria.
SOURCE:
Cardiovascular disorders in acute porphyria.
KF Leonhardt MD
Wien Klin Wochenschr
October 1981
pages 580-4
+++++++++++++++++
HCC / Hepatocellular carcinoma
The incidence of hepatocellular cancer is increaed sixtyonefold in AIP patients
as compared to the normal population.
SOURCE:
The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995
+++++++++++++++++++++
Lipoprotein abnormalities are found in acute porphyria patients.
SOURCE:
Clinical Chim Acta
200 April 1
294 (1-2): 37-43
Fernandex-Miranda C. et. al.
Madrid Spain
+++++++++++++++++++
Hypothyroidism
+++++++++++SEE SEPARATE FILE “HYPOTHYROIDISM
People with underactive thyroid (hypothyroidism) often have joint and muscle
symptoms caused by low levels of thyroid hormone.
Hypothyroidism is often co-existent with acute porphyria, AIP in particular.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++
Hypothyroidism develops when the thyroid gland does not produce enough
thyroid hormone, which regulates the way the body uses energy. A lack of
thyroid hormone affects many body systems.
The incidence of hypothyroidism tends to increase with age, with older women at
highest risk.
SOURCE:
Columbia Healthy Systems
++++++++++++
Hypothyroidism have been found to be co-exist with acute porphyria, AIP in
particular.
SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++
Hypothyroidism develops when the immune system produces antibodies that
destroy thyroid tissue and thus reduce the thyroid's ability to produce thyroid
hormone.
Causes of hypothyroidism includes disorders of the the hypothalamus.
SOURCE:
Mayo Clinic
Rochester, MN
++++++++++
People with underactive thyroid(hypothyroidism) often have joint and muscle
symptoms caused by low levels of thyroid hormone.
These may include: Muscle aches, tenderness and stiffness, especially in the
shoulders and hips; Pain and stiffness in the joints; Swelling of the knees or
small joints in the hands and feet; symptoms similar to Carpal tunnel syndrome.
Hypothyroidism is often co-existent with acute porphyria.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++++
Joint problems due to hypothyroidism can be difficult to distinguish from
rheumatoid arthritis.
Both can cause painful, swollen and stiff joints — often worse after rest.
But people with underactive thyroid often have less morning stiffness.
People with hypothyroidism may also have attacks of pseudogout, a form of
arthritis caused by crystal deposits in the joints.
SOURCE:
Mayo Clinic
Rochester, MN
+++++++++++++
Some of the symptoms of hypothyroidism include choarse or thinning hair, dry
skin, slow body movements, inability to tolerate col temperatures, feeling tired,
slugish or weak, memory problems, depression, weight gain, difficulty
concentraing, brottle nails and or a yellowish tint to the skin.
Constipation is often experienced by persons with hypothyroidism not unlike the
co-existing AIP.
SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++
Hypothyroidism is treated with synthetic thyroid hormone medication.
Symptoms of hypothyroidism usually disappear within a few months after
treatment begins.
Most people who develop hypothyroidism need treatment for the rest of their
lives
SOURCE:
Columbia Healthy Systems
++++++++++++++
Autoimmune diseases, including kidney disease and liver disease and an
underactive thyroid also can damage peripheral nerves.
Many porphyria patients have a hypothyroid condition.
SOURCE:
Mayo Health News
The Mayo Clinic
Rochester, MInnesota
++++++++++++++++++
MS Muliple Sclerosis
There is clinical evidence linking MS to co-exist with some forms of porphyria.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++
Elevated urine porphyrins and decreased levels of coproporphyrinogen oxidase
confirmed the correct diagnosis of hereditary coproporphyria in patients
misdiagnosed as MS.
SOURCE:
Hereditary coproporphyria: an imitator of multiple sclerosis.
Macy JA, Gilroy J, Perrin JC.
Department of PM&R,
William Beaumont Hospital,
Royal Oak, MI 48072.
Archives of Physical Medicine and Rehabilatation
1991 Aug;72(9):703-4
++++++++++++++
There have been several cases of MS co-existing with HCP cited in medical
journals.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++
SLE / Lupus
The co-existence of SLE and PCT was first reported by Wolfram in 1952.
SOURCE:
Porphyria cutanea tarda in a patient with systemic lupus erythematosus
A. Sinha, N. Dixon, M. M. O'Sullivan and J. M. Sowden
Department of Rheumatology and Dermatology
Wrexham Maelor Hospital
Croesnewydd Road,
Wrexham LL13 7TD, UK.
+++++++++++
The co-existence of SLE and PCT presents a diagnostic and therapeutic
challenge, and standard dose chloroquine used in SLE can precipitate PCT.
SOURCE:
Porphyria cutanea tarda in a patient with systemic lupus erythematosus
A. Sinha, N. Dixon, M. M. O'Sullivan and J. M. Sowden
Department of Rheumatology and Dermatology
Wrexham Maelor Hospital
Croesnewydd Road,
Wrexham LL13 7TD, UK.
+++++++++++
The co-occurence of systemic lupus erythematosus [SLE} and porphyria has
been described in many case reports.
Although a genetic or environmental link between'these diseases has been
proposed, this has never been established.
The two disorders have many similar clinical manifestations.
SOURCE:
Annals of the Pheumatic Diseases
1990 49:246-248
"Antinuclear antibodies and the diagnosis
of systemic lupus in patients with poprhyria"
Allard, Charles, Herrick, McColl and Scott
+++++++++++++++++++
The association between disorders of porphyrin metabolism and SLE
is well documented.
SOURCE:
Hypertension in patients with AIP
C. Andersson et. al.
Journal of Internal Medicine 1994
236: 169-175
++++++++++++++++++++++++
The co-existence of SLE and PCT was first reported by Wolfram in 1952.
SOURCE:
Porphyria cutanea tarda in a patient with systemic lupus erythematosus
A. Sinha, N. Dixon, M. M. O'Sullivan and J. M. Sowden
Department of Rheumatology and Dermatology
Wrexham Maelor Hospital
Croesnewydd Road,
Wrexham LL13 7TD, UK.
+++++++++++
The association of SLE with PCT has been clinically indicated for a number of
years.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++.
The association between disorders of porphyrin metabolism and SLE
is well documented.
SOURCE:
Hypertension in patients with AIP
C. Andersson et. al.
Journal of Internal Medicine 1994
236: 169-175
++++++++++++++
In 1998, Gibson and McEvoy presented a series of 15 patients who had
co-existent PCT and various forms of lupus erythematosus (SLE).
SOURCE:
Porphyria cutanea tarda in a patient with systemic lupus erythematosus
A. Sinha, N. Dixon, M. M. O'Sullivan and J. M. Sowden
Department of Rheumatology and Dermatology
Wrexham Maelor Hospital
Croesnewydd Road,
Wrexham LL13 7TD, UK.
+++++++++++
Infections with HIV and hepatitis C virus have also been known to precipitate
PCT.
SOURCE:
Porphyria cutanea tarda in a patient with systemic lupus erythematosus
A. Sinha, N. Dixon, M. M. O'Sullivan and J. M. Sowden
Department of Rheumatology and Dermatology
Wrexham Maelor Hospital
Croesnewydd Road,
Wrexham LL13 7TD, UK.
+++++++++++
"Comorbidity" is having two or more diseases or conditions occurring at
the same time, such as anxiety disorder and depression, or acute
porphyria and fibromyalgia, or ms.
SOURCE:
Mental Health Resource
Mayo Foundation for Medical Education and Research
Rochester, Minnesota
2003
+++++++++++
There is a final common pathway that allows many diseases to
overlap in their presentation.
For years this pathway was never identified for it was unknown.
SOURCE:
The porphyrin pathway: the final common pathway?
Downey DC.
Oral Pathology Department
Gentle Dental, Beaverton, Oregon
Med Hypotheses
2002 Dec;59(6):615-21.
++++++++++
There are between 14 and 22 million Americans with autoimmune diseases.
SOURCE:
Do you have a mystery illness?
Health
Pegy J. Noonan
USA Weekend
6:27-29-2003
+++++++++++
The clinical presentation of porphyria may vary widely and may encompass
cutaneous and neurological signs and symptoms.
Appropriate therapy requires as precise a diagnosis as possible.
Although the clinical presentation might be telling, as, for example, in porphyria
cutanea tarda, in which the skin changes are fairly typical.
Other porphyrias can overlap in their cutaneous and neurologic findings, at
times urgently requiring a detailed and focused workup with the help of the
laboratory.
SOURCE:
Claus A. Pierach
Cecil Watson Laboratory
University of Minnesota
Abbott Northwestern Hospital
Minneapolis, MN
++++++++++
Porphyrin abnormalities have been identified in acquired immunodeficiency
syndrome.
SOURCE:
Porphyrin abnormalities in acquired immunodeficiency syndrome.
O'Connor WJ, Murphy GM, Darby C et al.
Archives of Dermatology
1996;132:1443-7.
++++++++++++
Physicians have suggested that maintaining body balance and/or treatment by a
substance could halt or repair damage caused by a wide array of diseases,
once again suggesting a common thread amongst diseases.
The porphyrin pathway is one such pathway.
Dr. M. Doss has compiled a list of diseases having porphyrin abnormalities
unrelated to a porphyria, where porphyrin abnormalities may be a part of the
final common pathway for all disease.
SOURCE:
The porphyrin pathway: the final common pathway?
Downey DC.
Oral Pathology Department
Gentle Dental, Beaverton, Oregon
Med Hypotheses
2002 Dec;59(6):615-21.
+++++++++++
Glands that produce and secrete hormones into the blood or lymph systems.
These glands include the thyroid,parathyroid, hypothalamus, pineal, pituitary,
adrenal, islands of Langerhans in the pancreas, and the gonads (testes and
ovaries).
The effects of these hormones may affect one organ or tissue, or the entire
body.
Disorders may result when too few hormones are secreted (hyposecretion) or
too many are secreted (hypersecretion).
Glands that are part of this include:the thyroid, parathyroid, Adrenal, Pituitary;
Testes and ovaries, and the pancreas.
SOURCE:
Robert Johnson M.D.
Internal Medicine
+++++++++++
A syndrome is acollection of signs and symptoms that characterize an
ailment or medical condition.
SOURCE:
Health Resources
Mayo Foundation for Medical
Education and Research
Rochester, Minnesota
2003
++++++++++
Homozygous or compound heterozygous variants of acute hepatic porphyrias
may already manifest in childhood.
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
+++++++++++
Central nervous dysfunction can include hypothalamic dysfunction, or cerebellar
involvement.
SOURCE:
Acute Intermittent Porhyria
Anne LeMaistre, M.D.
1995
TMC
+++++++++
Arthritis, Graves disease, thyroid problems, Crohn's Disease, diabetes,
Pernicious Anemia, Colitis, Alopecia. are all autoimmune diseases.
SOURCE:
Do you have a mystery illness?
Health
Pegy J. Noonan
USA Weekend
6:27-29-2003
+++++++++
Serum porphyrin levels were elevated in patients with HIV infection.
This elevation may partly account for the association of porphyria cutanea tarda
with HIV infection.
SOURCE:
Cutaneous Heme Metabolism;
Porphyrias; Photodermatoses
Dr. Henry Lim M.D.
New York University
School of Medicine
Department of Dermatology
550 First Avenue, New York, NY 10016
(212) 263-7300
++++++++++
FM stands for fibromyalgia.
FM is a form of chronic neuromuscular pain.
It is actually not one disease, but rather a syndrome than can emcompass
up to 50 different conditions.
Most peoiple who have it describe symptoms that include tender points
in the upper back and neck area, difficuklty sleeping and chronic fatigue.
It is not hereditary,
SOURCE:
Remedy
Vol. X No. 1
SPring 2003
++++++++++
AIDS can be a triggering factor in chronic hepatic porphyria..
SOURCE:
Journal of Inherited Metabolic Disease
2000 Nov;23(7):641-61
Erythropoietic and hepatic porphyrias.
Gross U, Hoffmann GF, Doss MO.
Division of Clinical Biochemistry
Faculty of Medicine,
PhilippsUniversity, Marburg, Germany
+++++++++++
Lupus, thyroid disease, multiple sclerosis, rheumatoid arthritis are normally
considered women's disease.
They are all vague, hard-to-pin-down symptoms such as fatigue, joint
pain, rashes or tingling limbs.
All of these symptoms may be misattributed to emotional upsst.
Patients often feel that something is not 2uire right, but they just try to
live with it for awhile.
When they do complain to their doctor, the physician has trouble coming up
with an accurate diagnosis.
SOURCE:
Remedy
Vol. X No. 1
Spring 2003
+++++++++++++
Autoimmune diseases, including kidney disease and liver disease and an
underactive thyroid also can damage peripheral nerves.
Many porphyria patients have a hypothyroid condition.
SOURCE:
Mayo Health News
The Mayo Clinic
Rochester, MInnesota
+++++++++
Severe attacks of porphyria may progress to peripheral neuropathy which may
resemble but is distinct from a Guillian-Barre Syndrome.
SOURCE:
Acute Porphyrias: Pathogenesis of
Neurological Manifestations
Urs. A Meyers M.D. et. al.
Seminars in Liver Disease
Vol. 18, Number 1
January 1998
+++++++++++
Celiac disease has been found in conjunction with a large number of patients
with variegate porphyria.
SOURCE:
Twaddle S, Wassif WS, Deacon AC, Peters TJ.
Celiac disease in patients with variegate porphyria.
Digest Dis Science journal
2001 Jul;46(7):pages 1506-8
+++++++++++
It has recently been proposed that a variety of chemical-associated illnesses for
which there are no widely accepted specific diagnostic tests or etiologic
explanations--such as multiple chemical sensitivity (MCS) syndrome, Persian
Gulf War illnesses, conditions associated with silicone breast implants, and
various fatigue syndromes--may represent either mild chronic cases of
porphyria, or, at least in part, manifestations of acquired abnormalities in heme
synthesis.
There is to date no proof that it is porphyria.
SOURCE:
Environmental Chemical Exposures and Disturbances of Heme Synthesis
Michael R. Moore et. al.
Department of Medicine
University of Queensland
Coopers Plains
Queensland, Australia
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