A 71-year-old woman in China with type 2 diabetes experienced three years of unexplained abdominal pain and psychiatric symptoms until she was ultimately also diagnosed with variegate porphyria (VP), a type of the rare genetic disorder that’s usually marked by severe pain around the abdomen. Because her symptoms did…
News
Among people with acute intermittent porphyria (AIP), high levels of two compounds in urine are linked to increased odds of occasional or recurrent attacks, with levels of one, called aminolevulinic acid or ALA, also tied to a greater likelihood of hospitalization. That’s according to the findings of a new…
A 16-year-old boy with acute intermittent porphyria (AIP), who first had abdominal pain and later developed seizures and was found to have a rare brain condition involving swelling, gradually recovered with a high-carbohydrate diet, anti-seizure medications, and by avoiding known triggers, according to a report from India. “Raising clinical…
A recent report described the case of a woman with acute intermittent porphyria (AIP) who experienced a rare complication called gonadal vein thrombosis (GVT), a blood clot that forms in veins that drain blood from the reproductive organs. The symptoms initially raised concerns for an AIP flare, so clinicians…
Clinicians have identified undiagnosed cases of acute hepatic porphyria (AHP) among people with suspected Familial Mediterranean Fever (FMF), an inherited inflammatory condition with nearly identical symptoms, a study reported. While the main manifestation of both conditions is sudden abdominal pain, symptoms exclusive to AHP were neuropathic, such as…
An 11-month-old girl developed symptoms of variegate porphyria (VP) after receiving a liver transplant from her mother, according to a case report from Germany. The researchers said the case highlights how transplanted organs can sometimes carry hidden risks. Both the child and her mother carried a mutation linked to VP,…
A buildup of aminolevulinic acid (ALA), responsible for the symptoms of delta-aminolevulinic acid dehydratase (ALAD) deficiency porphyria, also drives the unexpected accumulation of the metabolic byproduct COPRO III, a study found. The researchers said the finding helps explain why people with ALAD deficiency and other porphyrias consistently show elevated…
A basic urine test helped doctors in Sri Lanka diagnose probable acute hepatic porphyria (AHP) in a woman with recurrent unexplained abdominal pain, according to a case report that highlights the challenges of identifying the rare disorder in settings with limited access to specialized diagnostic tests. The diagnosis…
A blood stem cell transplant successfully corrected the underlying defect that causes erythropoietic protoporphyria (EPP) and eased symptoms of the genetic condition in a 16-year-old boy in the U.S, according to a case report. Prior to the stem cell transplant, the teen had developed painful sunlight sensitivity, a hallmark…
The experiences of a woman in India with acute intermittent porphyria (AIP) who endured years of symptoms and multiple hospitalizations before ultimately getting a correct diagnosis illustrate the global problem of inequality in AIP care, according to a new report by researchers in the Asian nation. The scientists highlighted…
Recent Posts
- Lack of skin symptoms for woman leads to variegate porphyria ‘blind spot’
- Because of AIP, I’m no longer the dependable person I once was
- During acute AIP attacks, high levels seen for 2 compounds in urine: Study
- Advocating for porphyria treatment has both roses and thorns
- Teen with AIP develops seizures, rare brain condition in case report
- I am a blessed porphyria warrior who is AIP, or accepting it positively
- Rare clot in AIP case tied to symptoms resembling flare, study finds
- Porphyria seen in familial Mediterranean fever patients: Study
- Liver transplant was ‘Trojan horse’ for baby’s variegate porphyria