Porphyria Educational Services

PORPHYRIA EDUCATIONAL SERVICES BULLETIN
Vol.2 No. 25 ~ June 18, 2000
Focus: Porphyria Research

Porphryia research progresses however slowly. Many mileposts have been recorded in the journey to present day understanding of porphyria. However there is as much, if not more than still needs to be researched.

New discoveries are being made to sub-types and mutations expressions not earlier known.
It is in these new discoveries that we begin to understand that not porphyria patients with a certain type manifest the same symptoms. For instance, AIP was long thought to not have any skin manifestations, however more and more AIP patients due have exacerbation of cutaneous symptoms.

Another thing is the heated debate over determinance of porphyria. Whether porphyria is determined by the inheritance of genes or driven to increased populations of porphyria diagnosis through environmental exposures us a decades old continuing debate among noted porphyria researchers. Certainly we all known that certain chemical toxins cause porphyria patients irritations, if not triggering an acute attack.

Altough to date epidemiologic studies fail to reveal conclusive evidence, some porphyria researchers have collected data on environmental risk factors which might contribute to the development of porphyria if the chemical toxins are left to continue to accummulate in the body fat and then released into the blood stream at various times.

Certain pesticides, herbicides, acrylamides, formaldehydes, pharmaceutical drugs are all known to increase the risk of a person leaving the lacency state of porphyria and becoming acute or even chronic. Also some epidemiologic work also suggests that alcohol, caffeine and tobacco may also play somewhat of an influence on the triggering of attacks.

Knowledge about genes in some variants of porphyria is making impressive strides. It is all welcome news to the porphyria community at large. In some families porphyria affects at least half of all family members. This pattern is known as autosomal dominant.

There is still no cures for any of the types of porphyria. And while intervention and preventive therapies exist, none as fullproof for all porphyria patients.

Porphyria research needs to move to the forefront of medical science research. This takes a lot of funding. Funding is usually directed toward the "well known" diseases and medical conditions. The main source for research dollars has been the National Institute of Health (NIH) .

To obtain such funding we have to continue to educate others about the need for porphyria research. Better yet, we have to teach others about porphyria in the first place. Then we need to have everyone's help to finish the job: educational and public awareness, and funding resources.

Diana Deats-O'Reilly, CEO
Porphyria Educational Services