News

A case series from Saudi Arabia highlights the challenges sometimes faced by women with acute intermittent porphyria (AIP) in getting a correct diagnosis — even with distinct clinical signs of acute neuropathy, or nerve damage. Indeed, five of the six women whose cases were detailed first received an incorrect…

A recent case report describes a rare instance of a woman diagnosed with both porphyria cutanea tarda (PCT) and systemic lupus erythematosus (SLE), an autoimmune disease. Her diagnosis was confirmed through laboratory tests and tissue biopsies. “The diagnosis of both pathologies becomes a challenge for physicians in diagnosis…

People with genetic mutations that cause acute hepatic porphyria (AHP) who have never experienced acute disease attacks are still at an elevated risk of showing subtle signs of the disease, a study found. Among undiagnosed first-degree family members of AHP patients, those who tested positive for a disease-causing mutation…

A woman in her 60s with fragile skin and blistering lesions on sun-exposed areas was diagnosed with porphyria cutanea tarda (PCT), the most common form of porphyria, alongside cutaneous sarcoidosis, a rare inflammatory skin condition, according to a case study from Canada. The woman was found to carry two…

COVID-19 triggered an attack of acute intermittent porphyria (AIP) in a 31-year-old woman, according to a report in Japan. The woman started having seizures after contracting COVID-19 and was later diagnosed with AIP associated with posterior reversible encephalopathy syndrome (PRES), a rare condition marked by brain swelling and…

Givlaari (givosiran) safely led to reductions in porphyria attacks and improved the quality of life of people with acute hepatic porphyria (AHP) in Japan in an expanded access program, according to newly shared results. The researchers noted that earlier trial data had “indicated that [Givlaari] may be an important treatment option…

While treating a woman in her 70s for a severe bacterial infection, clinicians came up with new ways to confirm the diagnosis of an acute variegate porphyria (VP) crisis when standard diagnostic tests were not feasible, which had also led to a delay in the patient’s treatment. The woman’s unusual…

It’s been about eight years since Hannah, a dancer and dance teacher, experienced her first acute hepatic porphyria (AHP) attack, but she can still clearly recall the intensity of the sharp stabbing sensation in her abdomen. The overwhelming pain, as well as fatigue, dizziness, and nausea, kept returning, their…

The seven-day Porphyria Awareness Week campaign kicks off May 12 to spread the word about porphyria and culminates with Global Porphyria Day on May 18, a Sunday. The theme of this year’s observance is “Think Porphyria,” according to the American Porphyria Foundation, which is joining forces with…

Liver disease, a potential complication of erythropoietic protoporphyria (EPP), may increase healthcare needs, raise disease burden, and negatively impact mental health, according to a new study by U.S. scientists based on self-reported data from patients. People with liver disease also said that their EPP had a greater impact on…