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…
News
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…
A young woman in Portugal was diagnosed with acute hepatic porphyria (AHP) after developing persistent abdominal pain and vomiting along with severe hyponatremia — dangerously low sodium levels in the blood — a case report shows. Doctors ruled out more common causes before targeted testing confirmed the diagnosis,…
The U.S. Food and Drug Administration (FDA) has rejected an application from Disc Medicine seeking accelerated approval of its experimental oral therapy bitopertin as a treatment for erythropoietic protoporphyria (EPP). According to Disc, the FDA said available clinical data aren’t sufficient to conclude that bitopertin is likely to…
A study in mice suggests that genetic makeup and diet may influence a person’s susceptibility to developing sporadic porphyria cutanea tarda (PCT), the most common form of porphyria, after exposure to environmental triggers. When researchers exposed mice to excess iron, a known trigger of PCT, only some developed…
Recent Posts
- 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
- With AIP, even minor decisions can have a big impact on life
- Study explains mystery of metabolite rise in ALAD porphyria
- Basic urine test helps doctors in Sri Lanka diagnose rare porphyria
- Blood stem cell transplant corrects defect underlying EPP in 16-year-old
- Woman’s long journey to diagnosis highlights inequalities in AIP care