A woman with unexplained abdominal pain and syndrome of inappropriate antidiuretic hormone secretion (SiADH) was eventually diagnosed with acute intermittent porphyria (AIP) after initial testing and misdiagnoses, a new case study reports. In SiADH, overproduction of antidiuretic hormone (ADH) causes the kidneys to reduce filtration significantly and retain more…
Treatment with Givlaari (givosiran) normalized disease-related laboratory parameters in a 47-year-old woman with acute intermittent porphyria (AIP) but she continued to experience severe symptom attacks despite getting normal test results. “We report a patient with AIP who experienced biochemical resolution of her [disease] with monthly [Givlaari] injections yet…
Among people with porphyria cutanea tarda (PCT) and chronic hepatitis C infection, treatment with modern antiviral medicines has been found to cure the infection and resolve PCT symptoms, according to a new study. Specifically, a combination therapy of ledipasvir and sofosbuvir — sold by Gilead under the brand name…
A Chinese woman with acute intermittent porphyria (AIP) accompanied by brain lesions was found to have a new mutation in the HMBS gene, a case report described. Along with other symptoms including constipation, seizures, and muscle weakness, the woman had swelling in some areas of the brain, indicative of…
An early diagnosis and treatment for acute intermittent porphyria (AIP) might have prevented severe complications in a 21-year-old woman, according to a U.K. case report. The researchers noted the nonspecific symptoms of porphyria attacks may make the diagnosis difficult. However, recurrent abdominal pain, low sodium levels in the blood,…
People with inactive porphyria who choose to fast for a day as part of their religious observances generally don’t see any unusual porphyria symptoms, a recent study reported. The study, “A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk…
Many of the symptoms of erythropoietic protoporphyria (EPP), a form of porphyria, may not be reported fully or at all, and this may make it harder to diagnose the rare disease, according to a new U.S. study. Researchers observed that nearly all patients in the…
Treatment with Scenesse (afamelanotide) — an implantable medicine used to treat people with intolerance to light — can help improve life quality for those with erythropoietic protoporphyria (EPP), making it easier for them to do certain activities, such as going to work or on vacation, a recent study…
A woman with acute intermittent porphyria (AIP) developed acute liver injury due to treatment with Givlaari (givosiran), according to a recent report. Her case, while “more rare” as a therapy side effect, highlights the importance of monitoring patients starting on Givlaari for liver damage, the scientists noted. The…
The case of a teenager in Nepal who was diagnosed with porphyria following a detailed series of clinical tests — part of a “diagnostic conundrum” — was described in a recent report. “This case highlights the baffling amalgamation of symptoms that simulate common diseases of concern yet are buried…
Get regular updates to your inbox.