Steve Bryson, PhD, science writer —

Unusual cases of congenital erythropoietic porphyria (CEP) occurring before birth may lead to miscarriage, as highlighted in a recent study describing the cases of two siblings. The amniotic fluid — the liquid that surrounds the developing fetus in the womb — in both pregnancies was not dark as expected…

Acute intermittent porphyria (AIP) attacks can be stopped by regular peritoneal dialysis, a treatment that eliminates waste products by rinsing the inner abdomen, as reported in a case study. According to researchers, this study suggests that peritoneal dialysis may be used both as a preventive treatment and during AIP…

The growing incidence of certain types of cancer among the elderly may indicate that an association between acquired erythropoietic uroporphyria (AEU) — a late-onset form of congenital erythropoietic porphyria (CEP) — and bone marrow malignancies may be more common than previously thought. The case of an 80-year-old man who…

A rare and severe form of porphyria — congenital erythropoietic porphyria (CEP) — was diagnosed in an infant girl immediately after birth. The case report, “Perinatal onset of severe congenital erythropoietic porphyria,” was published in the journal Archives of Disease in Childhood: Fetal & Neonatal.

A blood stem cell transplant can successfully correct defects in the body’s ability to make heme — a molecule that helps transport oxygen through the bloodstream — in people with bone marrow-based porphyrias, a small study showed. Thus, in patients with severe porphyrias, stem cell transplants should be considered…

Nearly 25% of people, mostly women, with acute intermittent porphyria (AIP) also have chronic nerve damage — a condition known as neuropathy — and use high amounts of pain medications, according to an analysis of a U.S. healthcare claims database. Based on these findings, when diagnosing and treating AIP…

A woman with the rarest type of porphyria, called congenital erythropoietic porphyria or CEP, was successfully treated by regular blood removal — a procedure called phlebotomy — which lowered her blood iron levels, reduced urinary porphyrins, and eliminated sun-sensitive skin blisters, a case study showed. …

People with variegate porphyria (VP), one of a group of related disorders, carry a significantly heavier disease burden — the overall impact of a medical disorder on a patient’s life — than those with hereditary coproporphyria (HCP), primarily…

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…

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…