Porphyria Educational Services

Porphyria Educational Services Bulletin Vol. 2 No. 39 October 1, 2000
FOCUS: The Need to Recognize Genetic Disease

Though rare the porphyrias which for the most part are genetic diseases, must be recognized in order to provide the most effective available treatments, including preventative therapies.

Even now into the new millenium many physicians do not know about porphyria.

Porphyria patients are often left undiagnosed for long periods of time worsening their conditions. Still others are misdiagnosed [wrong type], other underdiagnosed. All porphyria patients need to be evaluated properly and have a valid diagnosis.

Recognition is important in order to educate and counsel families with or at risk for hereditary disorders such as the various porphyrias.

Definitive diagnosis is essential before new treatments can be assessed reliably. One needs to be sure of the type of porphyria they have in order to have the correct intervention or preventive treatment.

Insights into treating various types of porphyrias diseases will likely result from understanding of 'accidents of nature'. It will be a long road before there will beeffective cures for the various types of porphyria.Gene therapy looks promising but is decades away. Meanwhile it is advisable for porphyriapatients to research everything that is available, avoid triggers, and use effectively the limited intervention and preventive therapies available.

Ray Bennett, PhD, Molecular Biology