Skip to main content


Showing posts from October, 2019

Physician Information Kit Available

Physician Information Kit Available Upon request, the APF will send a comprehensive physician education packet on the acute porphyrias to physicians. It includes educational materials on the diagnosis and management of the acute porphyrias; information on biochemical and genetic testing; Panhematin treatment for the acute porphyrias; and a recent article from the Annals of Internal Medicine on diagnosis and management of the acute porphyrias.  Please call our office at (301) 347-7166 to order the kit. In addition, the APF will also send information on PCT and EPP to physicians upon request. Please call our office at (301) 347-7166 to order the packet. These packets are delivered via USPS, for physicians only.


THE FDA APPROVED SCENESSE! Clinuvel Pharmaceuticals Ltd has announced that Scenesse/Afamelanotide 16mg has been approved in the USA by the Food and Drug Administration for the treatment of Erythropoietic Protoporphyria. The APF is proud of our EPP community who fought for years for this approval. There are 7000 known rare diseases, 5% of them have an FDA-approved treatment. FINALLY, EPP is one of them! Congratulations on this monumental win.

Porphyria Post

October 3, 2019

Porphyria Post

Rare Disease Week on Capitol Hill Travel Stipend Application


We need your help! The APF has created an extensive list of physicians around the world who are treating with people with Porphyria. This list helps when people from around the world contact the APF needing assistance finding a knowledgeable physician. YOU can help patients everywhere by sharing with us the name and location of your physician. Comment on this post, PM Edrin Williams, APF Director of Patient Services or call the APF office at 301.347.7166 to give us their information. Thank you!

Medical Moment: Molecular Diagnosis (DNA)

Medical Moment: Molecular Diagnosis (DNA) An international collaboration of porphyria experts is building an evidence-based database of verified pathogenic and benign variants in order to facilitate accurate diagnosis for the porphyria community, beginning with the three most common acute porphyrias (AIP, HCP, VP). A SPECIAL ARTICLE was recently published in Genetics in Medicine, a publication of the American College of Medical genetics and Genomics. This collaboration is among the European Porphyria Network (EPNET) of experts and the NIH-supported Porphyrias Consortium. ABSTRACT: With the advent of precision and genomic medicine, a critical issueis whether a disease gene variant is pathogenic or benign. Such is the case for the three autosomal dominant acute hepatic porphyrias (AHPs), including acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria, each resulting from the halfnormal enzymatic activities of hydroxymethylbilane synthase, coproporphyrinogen o…