U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hepatic porphyria

MedGen UID:
58119
•Concept ID:
C0162533
•
Disease or Syndrome
Synonyms: Hepatic Porphyria; Hepatic Porphyrias; Porphyria, Hepatic; Porphyrias, Hepatic
SNOMED CT: Hepatic porphyria (55056006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0002520
Orphanet: ORPHA95157

Definition

A rare sub-group of porphyrias characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare). [from ORDO]

Professional guidelines

PubMed

Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.
Moghe A, Dickey A, Erwin A, Leaf RK, O'Brien A, Quigley JG, Thapar M, Anderson KE
Mol Genet Metab 2023 Nov;140(3):107670. Epub 2023 Jul 27 doi: 10.1016/j.ymgme.2023.107670. PMID: 37542766
Givosiran for the treatment of acute hepatic porphyria.
Ricci A, Ventura P
Expert Rev Clin Pharmacol 2022 Apr;15(4):383-393. Epub 2022 May 11 doi: 10.1080/17512433.2022.2075848. PMID: 35531651
Acute hepatic porphyrias: Recommendations for evaluation and long-term management.
Balwani M, Wang B, Anderson KE, Bloomer JR, Bissell DM, Bonkovsky HL, Phillips JD, Desnick RJ; Porphyrias Consortium of the Rare Diseases Clinical Research Network
Hepatology 2017 Oct;66(4):1314-1322. Epub 2017 Sep 4 doi: 10.1002/hep.29313. PMID: 28605040Free PMC Article

Recent clinical studies

Etiology

Update on the Porphyrias.
Dickey AK, Leaf RK, Balwani M
Annu Rev Med 2024 Jan 29;75:321-335. Epub 2023 Aug 4 doi: 10.1146/annurev-med-042921-123602. PMID: 37540847
Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.
Moghe A, Dickey A, Erwin A, Leaf RK, O'Brien A, Quigley JG, Thapar M, Anderson KE
Mol Genet Metab 2023 Nov;140(3):107670. Epub 2023 Jul 27 doi: 10.1016/j.ymgme.2023.107670. PMID: 37542766
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
Balwani M, Sardh E, Ventura P, Peiró PA, Rees DC, Stölzel U, Bissell DM, Bonkovsky HL, Windyga J, Anderson KE, Parker C, Silver SM, Keel SB, Wang JD, Stein PE, Harper P, Vassiliou D, Wang B, Phillips J, Ivanova A, Langendonk JG, Kauppinen R, Minder E, Horie Y, Penz C, Chen J, Liu S, Ko JJ, Sweetser MT, Garg P, Vaishnaw A, Kim JB, Simon AR, Gouya L; ENVISION Investigators
N Engl J Med 2020 Jun 11;382(24):2289-2301. doi: 10.1056/NEJMoa1913147. PMID: 32521132
Hepatic porphyria: A narrative review.
Arora S, Young S, Kodali S, Singal AK
Indian J Gastroenterol 2016 Nov;35(6):405-418. Epub 2016 Oct 31 doi: 10.1007/s12664-016-0698-0. PMID: 27796941
The porphyrias.
Moore MR, McColl KE, Goldberg A
Diabete Metab 1979 Dec;5(4):323-36. PMID: 398301

Diagnosis

Update on the Porphyrias.
Dickey AK, Leaf RK, Balwani M
Annu Rev Med 2024 Jan 29;75:321-335. Epub 2023 Aug 4 doi: 10.1146/annurev-med-042921-123602. PMID: 37540847
Diagnosis, evaluation and monitoring of acute hepatic porphyria.
Solares I, Castelbón FJ, Enríquez de Salamanca R, Morales-Conejo M
Med Clin (Barc) 2023 Sep;159 Suppl 1:S19-S24. Epub 2023 Oct 10 doi: 10.1016/j.medcli.2023.07.005. PMID: 37827888
Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.
Moghe A, Dickey A, Erwin A, Leaf RK, O'Brien A, Quigley JG, Thapar M, Anderson KE
Mol Genet Metab 2023 Nov;140(3):107670. Epub 2023 Jul 27 doi: 10.1016/j.ymgme.2023.107670. PMID: 37542766
Porphyric neuropathy.
Gandhi Mehta RK, Caress JB, Rudnick SR, Bonkovsky HL
Muscle Nerve 2021 Aug;64(2):140-152. Epub 2021 Mar 31 doi: 10.1002/mus.27232. PMID: 33786855
Hepatic porphyria: A narrative review.
Arora S, Young S, Kodali S, Singal AK
Indian J Gastroenterol 2016 Nov;35(6):405-418. Epub 2016 Oct 31 doi: 10.1007/s12664-016-0698-0. PMID: 27796941

Therapy

Chemistry, structure and function of approved oligonucleotide therapeutics.
Egli M, Manoharan M
Nucleic Acids Res 2023 Apr 11;51(6):2529-2573. doi: 10.1093/nar/gkad067. PMID: 36881759Free PMC Article
Therapeutic siRNA: State-of-the-Art and Future Perspectives.
Friedrich M, Aigner A
BioDrugs 2022 Sep;36(5):549-571. Epub 2022 Aug 23 doi: 10.1007/s40259-022-00549-3. PMID: 35997897Free PMC Article
Delivery of Oligonucleotides to the Liver with GalNAc: From Research to Registered Therapeutic Drug.
Debacker AJ, Voutila J, Catley M, Blakey D, Habib N
Mol Ther 2020 Aug 5;28(8):1759-1771. Epub 2020 Jun 17 doi: 10.1016/j.ymthe.2020.06.015. PMID: 32592692Free PMC Article
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
Balwani M, Sardh E, Ventura P, Peiró PA, Rees DC, Stölzel U, Bissell DM, Bonkovsky HL, Windyga J, Anderson KE, Parker C, Silver SM, Keel SB, Wang JD, Stein PE, Harper P, Vassiliou D, Wang B, Phillips J, Ivanova A, Langendonk JG, Kauppinen R, Minder E, Horie Y, Penz C, Chen J, Liu S, Ko JJ, Sweetser MT, Garg P, Vaishnaw A, Kim JB, Simon AR, Gouya L; ENVISION Investigators
N Engl J Med 2020 Jun 11;382(24):2289-2301. doi: 10.1056/NEJMoa1913147. PMID: 32521132
Givosiran: First Approval.
Scott LJ
Drugs 2020 Feb;80(3):335-339. doi: 10.1007/s40265-020-01269-0. PMID: 32034693

Prognosis

Porphyria: a case report.
Baidya S, Kandel P, Rajkarnikar S, Kadel A, Niraula A, Dubey RK, Lamichhane M, Raut M, Bhattarai A, Tuladhar ET, Sharma VK
J Med Case Rep 2022 Dec 28;16(1):490. doi: 10.1186/s13256-022-03708-w. PMID: 36575494Free PMC Article
Acute hepatic porphyria and maternal health: Clinical and biochemical follow-up of 44 pregnancies.
Vassiliou D, Sardh E
J Intern Med 2022 Jan;291(1):81-94. Epub 2021 Sep 23 doi: 10.1111/joim.13376. PMID: 34411356
The Nonclinical Disposition and Pharmacokinetic/Pharmacodynamic Properties of N-Acetylgalactosamine-Conjugated Small Interfering RNA Are Highly Predictable and Build Confidence in Translation to Human.
McDougall R, Ramsden D, Agarwal S, Agarwal S, Aluri K, Arciprete M, Brown C, Castellanos-Rizaldos E, Charisse K, Chong S, Cichocki J, Fitzgerald K, Goel V, Gu Y, Guenther D, Habtemariam B, Jadhav V, Janas M, Jayaraman M, Kurz J, Li J, Liu J, Liu X, Liou S, Maclauchlin C, Maier M, Manoharan M, Nair JK, Robbie G, Schmidt K, Smith P, Theile C, Vaishnaw A, Waldron S, Xu Y, Zhang X, Zlatev I, Wu JT
Drug Metab Dispos 2022 Jun;50(6):781-797. Epub 2021 Jun 21 doi: 10.1124/dmd.121.000428. PMID: 34154993
Neurology of the acute hepatic porphyrias.
Oliveira Santos M, Leal Rato M
J Neurol Sci 2021 Sep 15;428:117605. Epub 2021 Aug 3 doi: 10.1016/j.jns.2021.117605. PMID: 34375916
Hepatic porphyria: A narrative review.
Arora S, Young S, Kodali S, Singal AK
Indian J Gastroenterol 2016 Nov;35(6):405-418. Epub 2016 Oct 31 doi: 10.1007/s12664-016-0698-0. PMID: 27796941

Clinical prediction guides

Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study.
Mantel Ä, Vassiliou D, Lissing M, Stephansson O, Wahlin S, Sardh E
J Inherit Metab Dis 2023 Jul;46(4):675-686. Epub 2023 Apr 26 doi: 10.1002/jimd.12616. PMID: 37078226
Acute hepatic porphyria and maternal health: Clinical and biochemical follow-up of 44 pregnancies.
Vassiliou D, Sardh E
J Intern Med 2022 Jan;291(1):81-94. Epub 2021 Sep 23 doi: 10.1111/joim.13376. PMID: 34411356
The Nonclinical Disposition and Pharmacokinetic/Pharmacodynamic Properties of N-Acetylgalactosamine-Conjugated Small Interfering RNA Are Highly Predictable and Build Confidence in Translation to Human.
McDougall R, Ramsden D, Agarwal S, Agarwal S, Aluri K, Arciprete M, Brown C, Castellanos-Rizaldos E, Charisse K, Chong S, Cichocki J, Fitzgerald K, Goel V, Gu Y, Guenther D, Habtemariam B, Jadhav V, Janas M, Jayaraman M, Kurz J, Li J, Liu J, Liu X, Liou S, Maclauchlin C, Maier M, Manoharan M, Nair JK, Robbie G, Schmidt K, Smith P, Theile C, Vaishnaw A, Waldron S, Xu Y, Zhang X, Zlatev I, Wu JT
Drug Metab Dispos 2022 Jun;50(6):781-797. Epub 2021 Jun 21 doi: 10.1124/dmd.121.000428. PMID: 34154993
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
Balwani M, Sardh E, Ventura P, Peiró PA, Rees DC, Stölzel U, Bissell DM, Bonkovsky HL, Windyga J, Anderson KE, Parker C, Silver SM, Keel SB, Wang JD, Stein PE, Harper P, Vassiliou D, Wang B, Phillips J, Ivanova A, Langendonk JG, Kauppinen R, Minder E, Horie Y, Penz C, Chen J, Liu S, Ko JJ, Sweetser MT, Garg P, Vaishnaw A, Kim JB, Simon AR, Gouya L; ENVISION Investigators
N Engl J Med 2020 Jun 11;382(24):2289-2301. doi: 10.1056/NEJMoa1913147. PMID: 32521132
Porphyrinurias and occupational disease.
Doss MO
Ann N Y Acad Sci 1987;514:204-18. doi: 10.1111/j.1749-6632.1987.tb48775.x. PMID: 3327428

Recent systematic reviews

New-onset and relapsed liver diseases following COVID-19 vaccination: a systematic review.
Alhumaid S, Al Mutair A, Rabaan AA, ALShakhs FM, Choudhary OP, Yong SJ, Nainu F, Khan A, Muhammad J, Alhelal F, Al Khamees MH, Alsouaib HA, Al Majhad AS, Al-Tarfi HR, ALyasin AH, Alatiyyah YY, Alsultan AA, Alessa ME, Alessa ME, Alissa MA, Alsayegh EH, Alshakhs HN, Al Samaeel HA, AlShayeb RA, Alnami DA, Alhassan HA, Alabdullah AA, Alhmed AH, AlDera FH, Hajissa K, Al-Tawfiq JA, Al-Omari A
BMC Gastroenterol 2022 Oct 13;22(1):433. doi: 10.1186/s12876-022-02507-3. PMID: 36229799Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...