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The difficulty of diagnosing acute intermittent porphyria (AIP) due to its overlap of symptoms of other conditions, such as chronic cannabis use or eating disorders, was shown in a recent case report about a 15-year-old girl. The girl arrived at the hospital with severe vomiting, stomach pain, and psychiatric…

A longer delay in the diagnosis of erythropoietic protoporphyria (EPP) is associated with a negative impact on patients’ lives, particularly at the emotional level, according to a recent study in the U.S. However, the severity of EPP-related light sensitivity was not significantly associated with the length of diagnostic delay…

A combined liver and kidney transplant successfully treated a woman with a 20-year history of severe symptoms of acute intermittent porphyria (AIP), including end-stage kidney disease, according to a case report from Germany. The report, “Successful Pregnancy After Combined Liver and Renal Transplantation in a Patient…

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…