A woman in her 60s with fragile skin and blistering lesions on sun-exposed areas was diagnosed with porphyria cutanea tarda (PCT), the most common form of porphyria, alongside cutaneous sarcoidosis, a rare inflammatory skin condition, according to a case study from Canada. The woman was found to carry two…

A woman in her 20s was diagnosed with acute hepatic porphyria (AHP) after experiencing seizures and visual hallucinations due to a condition known as PRES, or unilateral posterior reversible encephalopathy syndrome — which causes swelling in one side of the brain — and muscle weakness due to neuropathy, or…

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…

The case of a 16-year-old girl with recurrent acute intermittent porphyria (AIP) attacks who saw her symptoms ease after she started treatment with Givlaari (givosiran) has been reported in the U.S. The injectable therapy in the U.S. is approved only for adults with acute forms of porphyria, unlike…

Five years of standard treatment did not slow the progression of congenital erythropoietic porphyria (CEP) — the rarest type of porphyria, marked by severe light sensitivity — in a young man in Armenia, according to a study on the first reported case of the condition in that country. For…

Scientists in Switzerland have reported the first documented case of acute intermittent porphyria (AIP) caused by a mosaic mutation — a genetic mutation that affected only a fraction of the patient’s cells. Their findings suggest that new mosaic mutations could potentially be the cause for acute porphyria in other…

Cosentyx (secukinumab) — a treatment approved for a skin condition called psoriasis — successfully treated both that disorder and porphyria cutanea tarda (PCT), the most common form of porphyria, in a 65-year-old woman, a case study shows. Subsequently stopping Cosentyx, which works by blocking the pro-inflammatory molecule IL-17, led…

When patients have unusual sunlight sensitivity combined with liver damage, the possible diagnosis of erythropoietic protoporphyria (EPP) should be considered, a recent study highlights. “Although rare, EPP is an important cause of nonblistering, cutaneous [skin] photosensitivity that may lead to hepatic [liver] involvement. Awareness and appropriate diagnostic work-up is…

A 72-year-old woman with acute intermittent porphyria (AIP) developed a type of liver cancer that arose nearly 30 years after her original porphyria diagnosis, a case study from Italy reported. “Our case report strongly suggests that punctual and serial laboratory and instrumental surveillance is necessary for acute hepatic…

The case of a woman with porphyria, who had a dangerous blood clot develop in a large vein heading into the heart, highlights the importance of identifying and promptly treating such issues in porphyria patients, researchers noted. The report, “Inferior Vena Cava Thrombosis in a Porphyria…