A liver transplant is effective and is associated with high survival rates in people with acute intermittent porphyria (AIP), a study reports. However, severe neuropathy, or nerve damage, and chronic kidney disease increase the risk of poor…
Sun exposure may lower the number and affect the properties of skin-derived stem cells in people with variegate porphyria, particularly their ability to give rise to other cell types, a study in two people has found. Further studies are still needed to understand the mechanisms that may cause the…
A combined liver and kidney transplant can be an effective treatment for acute intermittent porphyria (AIP) patients with kidney disease, a case report shows. The report, “Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report,” was published in the American Journal of Case…
Establishing normal urinary levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in healthy individuals helps identify people with acute hepatic porphyria (AHP) with high accuracy, a study shows. These reference values may serve to…
To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
Panhematin (hemin for injection), an approved medication to treat acute intermittent porphyria (AIP), has been deemed an essential medicine by the U.S. Food and Drug Administration (FDA), a designation intended…
Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…
A rare case of a woman with acute intermittent porphyria (AIP) complicated by posterior reversible encephalopathy syndrome (PRES), a neurological disorder characterized by seizures, was described in a report. Because some common anti-seizure therapies…
An Argentinian man with two different porphyria-causing mutations was described in a new case report. The unusual findings highlight the importance of thorough clinical and molecular analyses in such cases to better define treatment strategies, researchers said. The report, “Acute Intermittent Porphyria in a Man with…
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