This blog is dedicated to all the Porphyria patients worldwide.
The American Porphyria Foundation will provide updates and information here, as well as on the main site - http://porphyriafoundation.org
Porphyria is a family of rare, genetic diseases characterized by potentially life-threatening attacks and, for some patients, chronic debilitating symptoms that negatively impact daily functioning and quality of life. Porphyria includes eight subtypes, and each has unique manifestations, making an accurate diagnosis even more challenging. Four of these subtypes, a family of diseases referred to as acute hepatic porphyria (AHP), result from a genetic defect leading to deficiency in one of the enzymes of the heme biosynthesis pathway in the liver: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-deficiency porphyria (ADP).
In the United States and Europe, approximately 5,000 people experience one or more attacks annually, and approximately 1,000 people suffer frequent and severe attacks. Common treatment approaches for AHP include carbohydrate loading, intravenous (IV) glucose, and IV hemin, which can be administered during an attack or sometimes between attacks (prophylactically). However, hemin is not currently approved for the prophylactic treatment of AHP. Currently, there are no treatments approved to prevent debilitating attacks and treat the chronic symptoms of AHP.
Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 2012;120(23):4496-4504.
Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005;142(6):439-450.
Bissell DM, Wang B. Acute hepatic porphyria. J Clin Transl Hepatol. 2015;3(1):17-26.
Bonkovsky HL. Neurovisceral porphyrias: what a hematologist needs to know. Hematology Am Soc Hematol Educ Program. 2005:24-30.
American Porphyria Foundation. Acute Intermittent Porphyria (AIP). http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP.
Q & A WITH PORPHYRIA EXPERT, DR. BRUCE
WANG, UCSF The APF asked our Facebook friends for their top questions they
would ask a porphyria expert.
The following questions were submitted
to Dr. Wang for his responses ...
Q. Does EPP give us bad teeth? Also, do people with EPP
get stomach pains or is that with the other porphyias?
A. The porphyrin that accumulates in EPP patients is protoporphyrin
IX, which does not cause discoloration to teeth or abdominal pain.
The type of porphyria that leads to discolored teeth is Congenital
Erythropoietic Protoporphyria. The porphyrias that lead to episodic
abdominal pain attacks are the acute hepatic porphyrias.
Q. I have EPP and I have a severe reaction on my hands
and lips. Do I seek urgent care? Also, what can you even do
when you burn your lips?
A. The acute reactions to sunlight in EPP can be very severe and,
unfortunately, there are not many effective options to treat the
symptoms. Nonsteroidal anti-inflammatory drugs (NSAIDS such as