Ania (UK) - Living with Acute Intermittent Porphyria

Описание к видео Ania (UK) - Living with Acute Intermittent Porphyria

This video was created for UK audiences.

Ania from the UK is living with acute intermittent porphyria (AIP). In this video, she shares her story and thoughts about living with this rare disease.

Porphyria is a family of rare, genetic diseases characterized by potentially life-threatening attacks and, for some patients, chronic debilitating symptoms that negatively impact daily functioning and quality of life. Porphyria includes eight subtypes, and each has unique manifestations, making an accurate diagnosis even more challenging. Four of these subtypes, a family of diseases referred to as acute hepatic porphyria (AHP), result from a genetic defect leading to deficiency in one of the enzymes of the heme biosynthesis pathway in the liver: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-deficiency porphyria (ADP). Learn more at: www.porphyria.co.uk

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