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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.
 
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

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
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
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

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
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
Syed YY
Drugs 2021 May;81(7):841-848. Epub 2021 Apr 19 doi: 10.1007/s40265-021-01511-3. PMID: 33871817
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
Moore MR, McColl KE, Goldberg A
Diabete Metab 1979 Dec;5(4):323-36. PMID: 398301

Diagnosis

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
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
Anderson KE, Lobo R, Salazar D, Schloetter M, Spitzer G, White AL, Young RM, Bonkovsky HL, Frank EL, Mora J, Tortorelli S
Am J Med Sci 2021 Aug;362(2):113-121. Epub 2021 Apr 16 doi: 10.1016/j.amjms.2021.03.004. PMID: 33865828
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
Martásek P
Semin Liver Dis 1998;18(1):25-32. doi: 10.1055/s-2007-1007137. PMID: 9516675

Therapy

Egli M, Manoharan M
Nucleic Acids Res 2023 Apr 11;51(6):2529-2573. doi: 10.1093/nar/gkad067. PMID: 36881759Free PMC Article
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
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
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
Scott LJ
Drugs 2020 Feb;80(3):335-339. doi: 10.1007/s40265-020-01269-0. PMID: 32034693

Prognosis

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
Vassiliou D, Sardh E
J Intern Med 2022 Jan;291(1):81-94. Epub 2021 Sep 23 doi: 10.1111/joim.13376. PMID: 34411356
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
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
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

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
Farrell CP, Nicolas G, Desnick RJ, Parker CJ, Lamoril J, Gouya L, Karim Z, Tchernitchko D, Chan B, Puy H, Phillips JD
Blood Adv 2022 Feb 8;6(3):760-766. doi: 10.1182/bloodadvances.2021005484. PMID: 34724702Free PMC Article
Vassiliou D, Sardh E
J Intern Med 2022 Jan;291(1):81-94. Epub 2021 Sep 23 doi: 10.1111/joim.13376. PMID: 34411356
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
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

Recent systematic reviews

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

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