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 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…
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…
Acute hepatic porphyria (AHP) is more commonly seen in women in Denmark, with acute intermittent porphyria (AIP) the the most frequent subtype. That’s according to a recent study that also found that patients with high levels of porphobilinogen, a porphyrin precursor that builds up to toxic levels in AHP…
Two siblings with a rare form of variegate porphyria (VP) who had skin lesions caused by light or sun exposure and neurodevelopmental symptoms were described in a study from Germany that also reviewed all the other cases in the literature until 2023. Both had epileptic seizures, developmental delays, and…
Alnylam Act, a sponsored genetic testing program developed by Alnylam Pharmaceuticals and now under the management of Preventiongenetics, is offering free services for certain people in the U.S. and Canada suspected of having acute hepatic porphyria (AHP). Through the program, genetic testing and counseling are offered at…
A 15-year-old girl who developed seizures and changes in her mental health status was diagnosed with acute intermittent porphyria (AIP) associated with encephalopathy, or changes in brain function, a U.S. study reports. The clinicians noted her initial presentation was confusing with apparently unrelated symptoms. However, the girl did show…
Multiple testing and specialist appointments are often needed for diagnosing erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), and both conditions are frequently associated with significant healthcare costs. That’s according to a real-world study that analyzed the medical records of EPP and XLP patients in the U.S. The patients waited about…
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