A 21-year-old woman was diagnosed with congenital erythropoietic porphyria (CEP) — the rarest of porphyria types — after developing acute liver failure and swelling in the legs and mouth associated with the intake of ferrous sulfate, an iron supplement. The woman had a previous history of chronic iron deficiency…

Oral iron supplements may help people with erythropoietic protoporphyria (EPP) build back their iron reserves and increase the levels of hemoglobin — the iron-containing protein that carries oxygen in red blood cells — a small study in Denmark suggests. However, even when taken at small doses over a short…

A rare mutation in the HFE gene, called H63D, was found to be the cause of hereditary hemochromatosis, a condition marked by iron overload, that ultimately led to porphyria cutanea tarda (PCT) in a 21-year-old man in the U.S., a case report shows. This case demonstrates the occurrence of…

A middle-aged woman with signs of porphyria cutanea tarda (PCT), the most common form of porphyria, was diagnosed with hereditary hemochromatosis, a disorder associated with PCT and marked by iron overload. The case report “illustrates the challenge in diagnosing PCT but also aims to highlight the association between…

A 77-year-old man with porphyria cutanea tarda (PCT), the most common form of porphyria, was diagnosed with adult-onset hereditary hemochromatosis, a condition marked by iron overload that can be associated with PCT. He was successfully treated with antibiotic skin creams and regular therapeutic blood letting (phlebotomy) to remove excess…

Regular iron infusions given to treat anemia caused a woman with a rare mutation in the uroporphyrinogen decarboxylase (UROD) gene to develop porphyria cutanea tarda (PCT). Her case was described in the report, “Iatrogenic Iron Overload Causing Porphyria Cutanea Tarda in a Patient With a Rare Nonsense Heterozygous…

Regular removal of blood, through a procedure called phlebotomy, reduced symptoms and porphyrin levels in a person with congenital erythropoietic porphyria (CEP), likely by reducing iron levels in the body, according to recent case report that recommends targeting iron levels as a strategy to manage the disease.

A tissue-specific mechanism was found to take part in the regulation of iron levels in the body, a discovery that may have implications for new therapies for diseases such as porphyria, a study in fruit flies suggests. The study, “Glycogen branching enzyme controls cellular iron homeostasis via Iron…