Throughout our lives, we make daily decisions. Some are minor, like what to wear or eat, while others can significantly impact our future. For those of us living with acute intermittent porphyria (AIP), even small choices become crucial. Beyond major decisions, such as undergoing a bilateral salpingectomy and a…
A buildup of aminolevulinic acid (ALA), responsible for the symptoms of delta-aminolevulinic acid dehydratase (ALAD) deficiency porphyria, also drives the unexpected accumulation of the metabolic byproduct COPRO III, a study found. The researchers said the finding helps explain why people with ALAD deficiency and other porphyrias consistently show elevated…
A basic urine test helped doctors in Sri Lanka diagnose probable acute hepatic porphyria (AHP) in a woman with recurrent unexplained abdominal pain, according to a case report that highlights the challenges of identifying the rare disorder in settings with limited access to specialized diagnostic tests. The diagnosis…
A blood stem cell transplant successfully corrected the underlying defect that causes erythropoietic protoporphyria (EPP) and eased symptoms of the genetic condition in a 16-year-old boy in the U.S, according to a case report. Prior to the stem cell transplant, the teen had developed painful sunlight sensitivity, a hallmark…
Becoming educated and informed about porphyria is a good first step. Here you’ll find general information about the disease, including the types, diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of some of our columnist’s words of wisdom to help you along on your porphyria journey.
There is no cure for porphyria yet, but there are therapies that can help manage the disease. Here you can find more information about some of the approved treatments for porphyria.
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