In an extremely unusual case, a young man in Turkey diagnosed as a child with spinal muscular atrophy, a rare genetic neurological disease, was also found to have porphyria. “An individual carrying mutated genes for both diseases is similar to the odds of two pins colliding in mid-air,” its…
News
People in Brazil with acute hepatic porphyria (AHP) have a high prevalence of chronic symptoms and a poor quality of life, a retrospective registry study has found. This new work also reported a higher proportion of patients with recurrent attacks compared with previous studies. “Our study fortifies the knowledge…
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…
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