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A large proportion of people with acute intermittent porphyria (AIP) may still be undiagnosed in China, according to a recent study — and without a proper diagnosis, they’re not receiving needed treatment, researchers say. “More nationwide epidemiological surveys and study of the prevalence rate of AIP patients in China are…

Impairments in endothelial cells — those that line blood vessels — are more likely to be found in people with severe acute hepatic porphyria who have active symptoms than among those without signs of the disease, a study revealed. Abnormal levels of biomarkers that reflect endothelial cell impairment also…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

People with porphyria have a 5% increased risk of developing primary liver cancer compared with the general population, according to a recent review study. The findings highlight the importance of regular cancer screenings in porphyria patients, especially those older than 50 years, researchers noted. The study, “…

The first case in China of a patient with the autoimmune disorder systemic lupus erythematosus (SLE) who also was diagnosed with hereditary coproporphyria (HCP) was described in a recent report. The patient was identified as a 30-year-old woman, treated at Peking Union Medical College Hospital, in Beijing, who was…

Undiagnosed hereditary coproporphyria (HCP) was the cause of psychiatric symptoms, including aggressive behaviors, delusions, and visual hallucinations, in a 66-year-old-man initially misdiagnosed with schizoaffective disorder, according to a recent case report. “Nonspecific symptoms of acute porphyria can mimic many other diseases and lead to delayed diagnosis or misdiagnosis,” the…

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…

A report has described for the first time the case of a patient having an acute intermittent porphyria (AIP) attack following treatment with oseltamivir, an oral antiviral medication commonly prescribed for treating the flu. The report, “Acute intermittent porphyria: is oseltamivir safe in these patients?,” was published in…

Suppressing Wnt/beta-catenin — a signaling pathway that plays a key role in liver health — significantly reduced liver damage and the porphyrin deposits whose accumulation cause porphyria in a mouse model of the disease, a study shows. Notably, these beneficial effects were associated with lower levels of enzymes involved in…

A family with a new hereditary coproporphyria (HCP) mutation having frequent, severe attacks and blood clots was described in a new case report. The report, “High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria,” was published in JIMD Reports. HCP is the rarest…