News

HCP Is Hidden Cause of Psychiatric Changes in Man, 66: Case Report

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…

New Gene Mutation Seen in Family With HCP, Unusual Symptoms

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…

Organizations Rally to Help Ukrainian Rare Disease Patients

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…

Europe Awaits Proposed New Framework for Sharing Health Data

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…