Almost all people with severe, recurrent acute intermittent porphyria (AIP) were free from symptomatic attacks after treatment with Givlaari (givosiran), a small real-world study showed. Givlaari “drastically reduced the attack rate in our cohort, as 96% were attack-free at the time of the study,” the researchers wrote. Early…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
Adults with erythropoietic protoporphyria (EPP) treated with Scenesse (afamelanotide) spent more time exposed to light in springtime, experienced less pain, and slept better, according to a small case-controlled study. These patients, who experience skin hypersensitivity to sunlight, tolerated increased broad-spectrum white light exposure in the spring months, the…
The porphyria community has a new patient advocacy organization in the United Porphyrias Association (UPA), a newly launched nonprofit that seeks to advance disease awareness, as well as research and treatment development. The Maryland-based organization will strive to enhance patients’ lives through improved diagnostics, porphyria management, and an emphasis…
Vitamin D supplements can increase the levels of that vitamin in the blood of patients with erythropoietic protoporphyria (EPP), a Danish study reports. However, a fraction of EPP patients have persistently low levels of vitamin D, highlighting the need for close follow-up and monitoring. The study, “The effect…
A previously identified mutation in the PPOX gene in a Moroccan Jewish population may cause variegate porphyria by impairing the correct 3D folding of the PPOX enzyme. Incorrectly folded, the activity of the mutated enzyme was severely impaired. The study, “Molecular characterization of a novel His333Arg variant of…
The case of a man with porphyria cutanea tarda (PCT) that damaged his eyes — a rare manifestation of the disease that progressed to the point that it threatened his eyesight — was described in a report from India. The report, “Sight-threatening progressive corneo-scleral involvement in porphyria…
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…
Abnormal fatty lesions in the liver, detected via ultrasound, may be critical for diagnosing some cases of porphyria cutanea tarda (PCT), the most common form of porphyria, according to a study. Its authors suggest that clinicians should use urinary tests to check for PCT in patients with unexplained…
A child with erythropoietic protoporphyria (EPP) — marked by skin hypersensitivity to sunlight and sometimes artificial light — underwent cardiac surgery with minimal issues due to a blood exchange protocol that prevented photosensitivity effects and potential hemolysis, or the destruction of red blood cells, according to a recent case…
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