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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…
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When my youngest son, Brady, was diagnosed with erythropoietic protoporphyria (EPP) at age 3, it marked the beginning of a long and challenging journey. It had taken countless doctor appointments and a tremendous amount of persistence just to identify the condition. But as a parent and caregiver, I…
People with acute intermittent porphyria (AIP) who have high levels of porphyrin precursors in the urine are more likely to develop primary liver cancer, according to a new study that also found the risks are higher for these AIP patients after age 65. “Individualized PLC [primary liver cancer] risk…
Blaming COVID-19 was convenient the first two times Michael and I canceled our wedding. For me, it was an easier excuse than the truth. In managing acute hepatic porphyria (AHP), the rituals of life fall away. AHP is a rare, unpredictable disease that produces chronic and…
Rare disease can make big events like planning a wedding intimidating, but columnist Claire Richmond persevered.
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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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