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A case report describes the successful diagnosis and treatment of porphyria cutanea tarda (PCT) in a man presenting with a history of untreated hepatitis C. The case report, “«They Won’t Let Me Return to Work.» A Carpenter Diagnosed with Porphyria Cutanea Tarda,”…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

Note: This story was updated on Feb. 2, 2021, to note that cutaneous symptoms are more common in VP and HCP than in AIP or ADP. The American Porphyria Foundation is joining with others in asking people with acute hepatic porphyria to participate in the Porphyria Worldwide Patient Experience Research (POWER)…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

Radiation therapy for a woman with vaginal cancer completely resolved co-existing porphyria cutanea tarda (PCT), a form of porphyria that affects the skin, a case study reported.  The case study, “Porphyria cutanea tarda exacerbation as…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

Pretreatment with hemin helped treat a bacterial Helicobacter pylori (H. pylori) infection in a woman with acute intermittent porphyria (AIP), a Japanese case study reports. The treatment protocol outlined in the report was safely administered to a patient with a history of recurrent…

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

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…