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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

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Muscle weakness, numbness, respiratory failure

Confusion, anxiety, seizures, hallucinations, fatigue

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Blistering lesions, erosions or ulcers of sun-exposed skin (with primarily VP and HCP)

What Causes Acute Hepatic Porphyria?

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What causes acute hepatic porphyria?

 

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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).

 

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This increase in ALAS1 results in the buildup of neurotoxic intermediates – aminolevulinic acid (ALA) and porphobilinogen (PBG) - throughout the body.

 

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ALA and PBG are harmful to nerve cells and thought to cause the attacks and chronic symptoms characteristic of AHP.

 

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What Is It Like to Live With and Care for a Person With Acute Hepatic Porphyria (AHP)?

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Ania: Living with
Acute Intermittent Porphyria (AIP)
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Nathan: Living & Caregiving with
Acute Hepatic Porphyria (AHP)
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Caregiving Perspectives: Anne & Candace,
Acute Hepatic Porphyria (AHP)
Pinpoint AHP®
Pinpoint 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®

Alnylam Act® provides no-charge, third-party genetic testing for porphyria in the U.S. and certain other countries for patients who meet the inclusion criteria. Genetic counseling is available in the U.S.

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References

  1. Puy, Hervé et al., Lancet 2010;375:924-937

  2. ORPHANET; The Porphyria Consortium

  3. Bissell DM et al., N Engl J Med 2017;377:862-872

  4. Simon et al., Patient 2018;11:527–37

  5. Pischik & Kauppinen. Appl Clin Genet 2015;8:201–14

  6. Balwani & Desnick., Hematology Am Soc 6. Hematol Educ Program 2012;2012:19–27

  7. Bonkovsky et al., Am J Med 2014;127:1233–41

  8. Gouya et al., European Association for the Study of the Liver (EASL) Congress 2018. Presentation

  9. Naik et al., Mol Genet Metab 2016;119:278–83

  10. Szlendak et al., Adv Clin Exp Med 2016;25:361–8

  11. Besur et al., Metabolites 2014;4:977–1006

  12. Ramanujam & Anderson. Curr Protoc Hum Genet 2015;86:17.20.1–26

  13. Elder G, et al., J Inherit Metab Dis 2013; 36(5) 849-57

  14. Pallet N et al., Clin Kidney J 2018;11:191-197

  15. Peoc’h K., Mol Genet Metabol 2018;10.001

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