Growing up, whenever I’d go to the doctor with my mom, she’d inform them that she had porphyria. But even though the condition has affected several generations on her side of the family, and my mom was once hospitalized for more than three months because of a porphyria attack,…

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…

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…

My alarm rang promptly at 8 a.m. so I could make it to work by 10. I still wasn’t feeling my best, but I found the strength to get out of bed and gather the clothes I needed to wear that day. For days prior, I’d spent hours rearranging and…

The incidence of liver cancer is highest among adults with acute hepatic porphyrias (AHPs) who are older, female, symptomatic, and diagnosed with acute intermittent porphyria (AIP), one of the most common AHP subtypes. Those are the results of a pooled analysis of published studies conducted by a team of…

Note: This story was updated Oct. 25, 2024, to correct that hemin was used during this study to treat porphyria attacks. Long-term use of the approved therapy Givlaari (givosiran) safely led to sustained reductions in porphyria attacks, and in the need for medications to treat such attacks, in…

The case of a 16-year-old girl with recurrent acute intermittent porphyria (AIP) attacks who saw her symptoms ease after she started treatment with Givlaari (givosiran) has been reported in the U.S. The injectable therapy in the U.S. is approved only for adults with acute forms of porphyria, unlike…

High levels of the amino acid homocysteine — a potentially harmful side effect of Givlaari (givosiran) — were successfully normalized by vitamin B6 supplementation in a woman with hard-to-treat acute intermittent porphyria (AIP), as described in a recent case report. “Our results confirmed the importance of monitoring homocysteine…

My brother, Jake, has acute intermittent porphyria (AIP). But he’s in denial. “Doesn’t everyone’s stomach hurt when they miss a meal?” he asked me one day over the phone. No. Another time he admitted feeling frequent bouts of nausea. “It’s the worst at night. I always thought it was…

A 20-year-old Chinese woman experiencing bouts of abdominal pain and seizures eventually was diagnosed with acute intermittent porphyria (AIP), the most common form of acute porphyrias, after a series of tests. Her case highlights that “it is essential to consider acute intermittent porphyria diagnosis in patients having unexplained severe…