A 19-year-old woman who suffered four years of recurrent seizures and severe abdominal pain with no clear explanation found a possible answer when doctors tested her for acute intermittent porphyria (AIP). The woman had undergone repeated heart, neurological, and gastrointestinal tests that failed to explain her combination of symptoms.
Discussion
A cell signaling pathway called Wnt-beta-catenin may serve as a potential therapeutic target in porphyrias that affect the liver, a new study suggests. Blocking this pathway attenuated heme production and activated the body’s natural cellular cleanup process, reducing the toxic buildup of porphyrins in a mouse model of porphyria.
Discussion
Nerve damage affecting pain sensation and the autonomic nervous system, which controls involuntary body functions, persists for people with acute hepatic porphyria (AHP) between symptomatic attacks, according to a small study. Researchers used skin biopsies and a battery of autonomic function tests to show that this nerve damage, known as…
Discussion
For a young girl newly diagnosed with a type of porphyria that makes skin extremely sensitive to light, strict sun protection — including simple measures such as wearing wide-brimmed hats outdoors — was found to ease blistering lesions on her skin, as detailed in a case study. The researchers…
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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