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…
Porphyria is associated with a significant financial healthcare burden in the United States, which is driven mainly by hospital admissions, outpatient visits, and medical bills, a study reported. The study, “Healthcare Utilization and Cost Burden of Porphyria in Commercially Insured Adults in the United States,” was published…
Scientists discovered six new mutations in the HMBS gene associated with acute intermitent porphyria (AIP) in a group of Spanish patients. Besides expanding knowledge of the molecular basis of AIP in Spain, the investigators suggest these findings also may help identify individuals who carry these mutations, but…
Severe lack of hydroxymethylbilane synthase (HMBS) — the defective enzyme in people with acute intermittent porphyria (AIP) — led to abnormalities in mitochondria essential for cellular energy, and to depression-like symptoms in a mouse model of the disease, a study reports. The study, “Severe hydroxymethylbilane synthase…
Antiviral treatment can prevent the onset of porphyria cutanea tarda (PCT) in people with hepatitis C and urine abnormalities indicating this form of porphyria, a study found. The study, “Resolution of subclinical porphyria cutanea tarda after hepatitis C eradication with direct‐acting anti‐virals,” was published in the…
A new study testing a light exposure measuring device designed to help people with erythropoietic protoporphyria (EPP) better manage their symptoms is recruiting participants. A total of 30 EPP patients are expected to be enrolled, along with 10 individuals without the condition, who will serve as…
The low blood sodium levels associated with acute intermittent porphyria (AIP) may also contribute to reversible splenial lesion syndrome (RESLES), a case report suggests. The study, “Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene,” was published…
People with acute hepatic porphyria (AHP) are more likely to file for long-term sick leave and disability pension, but are not at more risk of premature death than the general population, a nationwide study from Norway found. The study, “Sick leave, disability, and mortality in acute…
The Committee for Medicinal Products for Human Use (CHMP), a branch of the European Medicines Agency (EMA), has recommended approval of Alnylam Pharmaceuticals’ givosiran for treating acute hepatic porphyria (AHP) in adults and adolescents 12 and older. If approved by the European Commission, givosiran will…
Patients with congenital erythropoietic porphyria (CEP) should have a liver biopsy to assess the degree of liver damage before undergoing a bone marrow transplant, a study suggests. The study, “Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction,” was published in the…
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