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Porphyria Educational Services

Porphyria Educational Services Weekly Bulletin
Vol. 2 No. 50 December 17, 2000
FOCUS: Porphyria and Mendelian Disorders

Mendelian disorders generally account for less than 5% of all hospital admissions in the general populations. Admissions for such are greater in the pediatric population, but not in relation to porphyria.

However, statistical data shows that today 9 % of pediatric deaths are due to mendelian disorders, including some rare forms of porphyria. Some forms of porphyria are known to affect 9% of the world's population. That is, 7% are carriers and roughly 2% exhibit
symptoms. Many porphyria patients who are active experience liver cirrhosis, liver failure, heptocellular carcinoma, respiratory paralysis and other maladies. People still died from manifestations of certain porphyria symptoms.

Although individually rare, genetic diseases including the porphyrias, collectively constitute a major health problem. There is so much unknown about the majority of the these diseases
which for the most part are considered rare.

Still today in the porphyrias, with the exception of AIP, VP, HCP and PCT, the porphyrias are still classified as a rare disease, that being, a disease with less than 200,000 documented cases.

Because so many people are carriers or family members are affected by porphyria, it is most important to be tested. It is most important to have the establishment of definitive diagnosis.

If anyone in your family has a family history of an inherited metabolic disease, it is important to gather a family emdical history. It is important to have recognition of other relatives with disease or at risk for disease.

If a person has a diagnosis it is gives way for a more accurate prognosis by a medical care provider.

Also by having a diagnosis there can be a constructive anticipation and prevention of complications, both medical and emotional/psychological . In the acute porphyrias a
regiment of "preventive glucose infusion" can be established in order to prevent onset of attacks and ongoing hospitalizations.

Having a diagnosis also allows for a more informed family planning.

Often patients with symptoms and without diagnosis wonder how to find out if they
have porphyria. There are some clues that are most suggestive of a genetic disease.
These includes a positive family history, a characteristic symdrome such as a progressive
neurologic deterioration; or intermittent neurologic symptoms. Additionally it can be a lack of environmental or other primary cause of symptoms and signs.

Porphyria is said to be for the most part, "like looking for a needle in a haystack".

Dr. Rachel Levenstein, MD, Ph.D.
Inherited Metabolic Diseases