Acute hepatic porphyria (AHP) refers to a family of ultra-rare, genetic diseases characterized by potentially life-threatening attacks and, for some patients, chronic manifestations that negatively impact daily functioning and quality of life. AHP is comprised of four types, each associated with distinct enzyme defects in the heme biosynthesis pathway in the liver: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and ALA dehydratase-deficiency porphyria (ADP). Porphyria is classified as either acute or cutaneous. The cutaneous porphyrias are rare inherited metabolic disorders that present with blistering of the skin, pain, and/or redness and swelling in sun-exposed areas.
In the United States and Europe, approximately 5,000 people experience one or more AHP attacks annually, and approximately 1,000 people suffer frequent and severe attacks.
Affected individuals can experience some combination of the following symptoms:
Severe, diffuse abdominal pain, vomiting/nausea, dark/reddish urine
Muscle weakness, numbness, respiratory failure
Confusion, anxiety, seizures, hallucinations, fatigue
Blistering lesions, erosions or ulcers of sun-exposed skin (with VP and HCP)
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 are factors associated with the attacks and disease manifestations characteristic of AHP.
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 acid intermediates – aminolevulinic acid (ALA) and porphobilinogen (PBG) – throughout the body.
ALA and PBG are harmful to nerve cells and are factors associated with the attacks and disease manifestations characteristic of AHP.
Pinpoint AHP® provides patients and their caregivers a variety of resources to help them understand the types of acute hepatic porphyria (AHP) and recognize the signs and symptoms.
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Alnylam Act® provides no-charge, independent genetic testing and counseling to individuals in the US and Canada who may have porphyria.
Alnylam Assist® offers patients personalized support throughout their treatment with an Alnylam product.
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