News

A young woman with tuberculosis and previously undiagnosed acute intermittent porphyria developed severe symptoms after starting standard antibiotics but improved with hemin and a modified regimen using medications considered safer for porphyria, according to a case report. Tuberculosis is an infection caused by the bacterium Mycobacterium tuberculosis. The woman’s…

A 67-year-old man with no psychiatric history was initially treated for mania with psychotic symptoms before abdominal pain, neurological symptoms, and dark urine prompted testing that supported a diagnosis of acute porphyria, a case report describes. One of his initial medications, valproic acid, can trigger or worsen porphyria attacks…

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.

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.

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…

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…

Hormonal birth control may increase the risk of disease flares in people with acute hepatic porphyria (AHP), but the risk depends on the type of birth control used, as well as the individual’s specific type of porphyria, according to a new study. Findings specifically suggest that birth control pills…

Long-term treatment with Givlaari (givosiran), an approved medication for acute intermittent porphyria (AIP), helped prevent further episodes of AIP in a man in his 20s with severe neurological complications from earlier attacks, according to a case study. The researchers say using the injection medication as a preventive treatment…

Many adults with acute intermittent porphyria (AIP) reported using cannabis and complementary and alternative care, including chiropractic and acupuncture, for symptoms or general well-being, a study found. However, more research is needed to determine whether these approaches are safe and effective. The U.S.-based study, “Complementary and alternative medicines…

Scenesse (afamelanotide), an injection treatment that helps prevent sun-related skin damage in adults with erythropoietic protoporphyria (EPP) — a type of porphyria marked by skin hypersensitivity to sunlight — is now approved in Canada. Health Canada cleared the therapy, given as a subcutaneous, or under-the-skin, injection, for use…