Mary, living with acute hepatic porphyria
Acute Hepatic Porphyria Symptoms Can Impact Quality of Life
Affected individuals can experience some combination of the following symptoms:
Severe, diffuse abdominal pain, vomiting/nausea, dark/reddish urine, hyponatremia
Muscle weakness, numbness, respiratory failure
Confusion, anxiety, seizures, hallucinations, fatigue
Blistering lesions, erosions or ulcers of sun-exposed skin (with primarily VP and HCP)
Acute Hepatic Porphyria Symptoms Can Impact Quality of Life
Affected individuals can experience some combination of the following symptoms:
Severe, diffuse abdominal pain, vomiting/nausea, dark/reddish urine, hyponatremia
Muscle weakness, numbness, respiratory failure
Confusion, anxiety, seizures, hallucinations, fatigue
Blistering lesions, erosions or ulcers of sun-exposed skin (with primarily VP and HCP)
What Causes Acute Hepatic Porphyria?
What causes acute hepatic porphyria?
In people with the genetic defect for AHP, one of the enzymes in the pathway that creates heme is deficient. Certain triggers can impact the pathway and can cause an increase of ALAS1 (aminolevulinic acid synthase 1).
This increase in ALAS1 results in the buildup of neurotoxic intermediates – aminolevulinic acid (ALA) and porphobilinogen (PBG) - throughout the body.
ALA and PBG are harmful to nerve cells and thought to cause the attacks and chronic symptoms characteristic of AHP.
What Is It Like to Live With and Care for a Person With Acute Hepatic Porphyria (AHP)?
References
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