Rare Disease Report

Porphyria - A Day in the Life

MAY 18, 2016
Desiree Howe



Rare Impact Award winner Desiree Howe of the American Porphyria Foundation describes the pain and frustration often associated with porphyria.

The porphyrias are a group of rare metabolic diseases in which  porphyrins accumulate and lead to neurological symptoms and/or skin problems.


Acute porphyrias primarily involve the nervous system and are often associated with severe pain as well as other non-specific symptoms (abdominal pain, neuropathy, vomiting, metnal disturbances) that make diagnosis problematic.  Cutaneous porphyrias usually involve the skin. Exposure to sun can lead to intense pain and/or blistering.

For more information, visit www.porphyriafoundation.com or rarediseases.org






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