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