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.
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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…
A young woman whose recurrent muscle weakness and breathing problems were long mistaken for myasthenia gravis, a neuromuscular disorder, was ultimately diagnosed with variegate porphyria (VP) after advanced genetic testing uncovered a disease-causing mutation, a case report shows. “In the described case, the patient’s atypical clinical manifestations led to…
An oral small molecule called PORT-77, being developed to treat two types of porphyria, was found in a small study to rapidly reduce the toxic buildup of a compound known as protoporphyrin IX (PPIX) in blood — suggesting it could become a disease-modifying treatment for these genetic disorders, according…
Givlaari (givosiran), an approved therapy for acute hepatic porphyria (AHP), was associated with several potentially new safety signals not included in the therapy’s prescribing information, according to a large real-world safety analysis. By analyzing more than 1,200 reports of adverse events associated with Givlaari in a U.S. drug safety…
Recent Posts
- Blocking Wnt pathway may offer new treatment route for liver porphyrias
- Nerve damage persists between AHP attacks, study shows
- For young girl with fragile skin, sun protection proves crucial to care
- Flare risks in AHP depend on hormonal birth control type, study finds
- Preventive porphyria treatment aids man’s recovery after severe attacks
- Adults with AIP report broad use of cannabis and alternative care
- In life with rare disease, it’s important to find your people
- Porphyria treatment now approved in Canada to prevent sun skin damage
- Genetic testing reveals young woman’s porphyria after years of misdiagnosis