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This video was created for U.S. audiences.
Regina from Brazil lives with variegate porphyria (VP), a type of acute hepatic porphyria (AHP). In this video, she shares her path to diagnosis and thoughts about living with this rare disease.
AHP refers to 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. In people with AHP, enzyme defects in the liver’s heme biosynthesis pathway result in an increase of aminolevulinate acid synthase 1, which in turn, leads to an accumulation of aminolevulinic acid and porphobilinogen in the body-the neurotoxic heme synthesis intermediates associated with AHP attacks and other disease manifestations. There are four types of AHP: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP) and ALAD-deficiency porphyria (ADP). Learn more: Talk to your doctor and visit PinpointAHP.com.
AS1-USA-01145