Alnylam Act, a sponsored genetic testing program developed by Alnylam Pharmaceuticals and now under the management of Preventiongenetics, is offering free services for certain people in the U.S. and Canada suspected of having acute hepatic porphyria (AHP). Through the program, genetic testing and counseling are offered at…
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I was a few weeks into a common cold, and late one evening I needed to lie down. My husband, Daniel, was already in the bed, so I made myself comfortable beside him by lying flat on my back, placing my hands on my chest and interlocking my fingers. I…
A boy’s long medical odyssey, which eventually led to a diagnosis of congenital erythropoietic porphyria (CEP) but left the child with long-term disabilities, demonstrates the need for timely recognition of this rare form of porphyria, per a report from India. “This case report illustrates the complex and challenging journey…
Liver abnormalities are common among people with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), a large U.S. study suggests. While the abnormalities were mild in most cases, in a small fraction of patients they may be tied to a risk of worse outcomes. In fact, at least half the reported…
Becoming educated and informed about porphyria is a good first step. Here you’ll find general information about the disease, including the types, diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of some of our columnist’s words of wisdom to help you along on your porphyria journey.
There is no cure for porphyria yet, but there are therapies that can help manage the disease. Here you can find more information about some of the approved treatments for porphyria.
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