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Porphyria

MedGen UID:
10865
Concept ID:
C0032708
Disease or Syndrome
Synonyms: Disorder, Porphyrin; Disorders, Porphyrin; Porphyrias; Porphyrin Disorder; Porphyrin Disorders
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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
Sources: HPO, OMIM, 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 (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Porphyrinopathy (371628009); Disorder of porphyrin and heme metabolism (29094004); Porphyria (418470004); Disorder of porphyrin metabolism (29094004)
 
Orphanet: ORPHA738

Definition

Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda.Other types of porphyria, called acute porphyrias, primarily affect the nervous system. These disorders are described as "acute" because their signs and symptoms appear quickly and usually last a short time. Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations. These signs and symptoms can be life-threatening, especially if the muscles that control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, can have both acute and cutaneous symptoms.The porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins and porphyrin precursors first build up in the body. In erythropoietic porphyrias, these compounds originate in the bone marrow. Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria. Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen (splenomegaly). The other types of porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and porphyrin precursors originate primarily in the liver, leading to abnormal liver function and an increased risk of developing liver cancer.Environmental factors can strongly influence the occurrence and severity of signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous porphyrias.
[from GHR]

Recent clinical studies

Etiology

Usta Atmaca H, Akbas F
J Med Case Rep 2019 Jan 21;13(1):17. doi: 10.1186/s13256-018-1956-9. PMID: 30661508Free PMC Article
Indika NLR, Kesavan T, Dilanthi HW, Jayasena KLSPKM, Chandrasiri NDPD, Jayasinghe IN, Piumika UMT, Vidanapathirana DM, Gunarathne KDAV, Dissanayake M, Jasinge E, Arachchi WK, Doheny D, Desnick RJ
BMC Res Notes 2018 Aug 2;11(1):552. doi: 10.1186/s13104-018-3615-z. PMID: 30071891Free PMC Article
Schmitt C, Lenglet H, Yu A, Delaby C, Benecke A, Lefebvre T, Letteron P, Paradis V, Wahlin S, Sandberg S, Harper P, Sardh E, Sandvik AK, Hov JR, Aarsand AK, Chiche L, Bazille C, Scoazec JY, To-Figueras J, Carrascal M, Abian J, Mirmiran A, Karim Z, Deybach JC, Puy H, Peoc'h K, Manceau H, Gouya L
J Intern Med 2018 Jul;284(1):78-91. Epub 2018 Mar 26 doi: 10.1111/joim.12750. PMID: 29498764
Olivier P, Van Melkebeke D, Honoré PJ, Defreyne L, Hemelsoet D
Eur J Neurol 2017 Sep;24(9):1183-1187. Epub 2017 Jul 10 doi: 10.1111/ene.13347. PMID: 28695690
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

Diagnosis

Usta Atmaca H, Akbas F
J Med Case Rep 2019 Jan 21;13(1):17. doi: 10.1186/s13256-018-1956-9. PMID: 30661508Free PMC Article
Indika NLR, Kesavan T, Dilanthi HW, Jayasena KLSPKM, Chandrasiri NDPD, Jayasinghe IN, Piumika UMT, Vidanapathirana DM, Gunarathne KDAV, Dissanayake M, Jasinge E, Arachchi WK, Doheny D, Desnick RJ
BMC Res Notes 2018 Aug 2;11(1):552. doi: 10.1186/s13104-018-3615-z. PMID: 30071891Free PMC Article
Schmitt C, Lenglet H, Yu A, Delaby C, Benecke A, Lefebvre T, Letteron P, Paradis V, Wahlin S, Sandberg S, Harper P, Sardh E, Sandvik AK, Hov JR, Aarsand AK, Chiche L, Bazille C, Scoazec JY, To-Figueras J, Carrascal M, Abian J, Mirmiran A, Karim Z, Deybach JC, Puy H, Peoc'h K, Manceau H, Gouya L
J Intern Med 2018 Jul;284(1):78-91. Epub 2018 Mar 26 doi: 10.1111/joim.12750. PMID: 29498764
Duque-Serrano L, Patarroyo-Rodriguez L, Gotlib D, Molano-Eslava JC
Curr Psychiatry Rep 2018 Feb 2;20(1):5. doi: 10.1007/s11920-018-0867-1. PMID: 29392446
Kuźmiński A, Aporowicz M, Brol M, Żołnowska A, Masternak M
J Clin Anesth 2016 Dec;35:114-117. Epub 2016 Aug 11 doi: 10.1016/j.jclinane.2016.06.014. PMID: 27871506

Therapy

Schmitt C, Lenglet H, Yu A, Delaby C, Benecke A, Lefebvre T, Letteron P, Paradis V, Wahlin S, Sandberg S, Harper P, Sardh E, Sandvik AK, Hov JR, Aarsand AK, Chiche L, Bazille C, Scoazec JY, To-Figueras J, Carrascal M, Abian J, Mirmiran A, Karim Z, Deybach JC, Puy H, Peoc'h K, Manceau H, Gouya L
J Intern Med 2018 Jul;284(1):78-91. Epub 2018 Mar 26 doi: 10.1111/joim.12750. PMID: 29498764
Duque-Serrano L, Patarroyo-Rodriguez L, Gotlib D, Molano-Eslava JC
Curr Psychiatry Rep 2018 Feb 2;20(1):5. doi: 10.1007/s11920-018-0867-1. PMID: 29392446
Serrano-Mendioroz I, Sampedro A, Alegre M, Enríquez de Salamanca R, Berraondo P, Fontanellas A
Hum Gene Ther 2018 Apr;29(4):480-491. Epub 2018 Jan 2 doi: 10.1089/hum.2017.056. PMID: 28990424
Russo JK, Braseth A
Head Neck 2017 Oct;39(10):E102-E109. Epub 2017 Aug 16 doi: 10.1002/hed.24771. PMID: 28815861
Olivier P, Van Melkebeke D, Honoré PJ, Defreyne L, Hemelsoet D
Eur J Neurol 2017 Sep;24(9):1183-1187. Epub 2017 Jul 10 doi: 10.1111/ene.13347. PMID: 28695690

Prognosis

Schmitt C, Lenglet H, Yu A, Delaby C, Benecke A, Lefebvre T, Letteron P, Paradis V, Wahlin S, Sandberg S, Harper P, Sardh E, Sandvik AK, Hov JR, Aarsand AK, Chiche L, Bazille C, Scoazec JY, To-Figueras J, Carrascal M, Abian J, Mirmiran A, Karim Z, Deybach JC, Puy H, Peoc'h K, Manceau H, Gouya L
J Intern Med 2018 Jul;284(1):78-91. Epub 2018 Mar 26 doi: 10.1111/joim.12750. PMID: 29498764
Duque-Serrano L, Patarroyo-Rodriguez L, Gotlib D, Molano-Eslava JC
Curr Psychiatry Rep 2018 Feb 2;20(1):5. doi: 10.1007/s11920-018-0867-1. PMID: 29392446
Baravelli CM, Sandberg S, Aarsand AK, Nilsen RM, Tollånes MC
J Intern Med 2017 Sep;282(3):229-240. Epub 2017 Jul 20 doi: 10.1111/joim.12646. PMID: 28730628
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
New GH, Hsu PY, Wu MH
Taiwan J Obstet Gynecol 2016 Apr;55(2):281-4. doi: 10.1016/j.tjog.2015.08.025. PMID: 27125415

Clinical prediction guides

Sardh E, Harper P, Balwani M, Stein P, Rees D, Bissell DM, Desnick R, Parker C, Phillips J, Bonkovsky HL, Vassiliou D, Penz C, Chan-Daniels A, He Q, Querbes W, Fitzgerald K, Kim JB, Garg P, Vaishnaw A, Simon AR, Anderson KE
N Engl J Med 2019 Feb 7;380(6):549-558. doi: 10.1056/NEJMoa1807838. PMID: 30726693
Olivier P, Van Melkebeke D, Honoré PJ, Defreyne L, Hemelsoet D
Eur J Neurol 2017 Sep;24(9):1183-1187. Epub 2017 Jul 10 doi: 10.1111/ene.13347. PMID: 28695690
Ferrer MD, Mestre-Alfaro A, Martínez-Tomé M, Carrera-Quintanar L, Capó X, Jiménez-Monreal AM, García-Diz L, Roche E, Murcia MA, Tur JA, Pons A
PLoS One 2016;11(10):e0164857. Epub 2016 Oct 27 doi: 10.1371/journal.pone.0164857. PMID: 27788171Free PMC Article
Norton J, Hymers C, Stein P, Jenkins JM, Bew D
J Emerg Med 2016 Nov;51(5):e115-e122. Epub 2016 Sep 10 doi: 10.1016/j.jemermed.2016.06.058. PMID: 27624508
Serrano-Mendioroz I, Sampedro A, Mora MI, Mauleón I, Segura V, Enríquez de Salamanca R, Harper P, Sardh E, Corrales FJ, Fontanellas A
J Proteomics 2015 Sep 8;127(Pt B):377-85. Epub 2015 May 13 doi: 10.1016/j.jprot.2015.05.004. PMID: 25979770

Recent systematic reviews

Younossi Z, Park H, Henry L, Adeyemi A, Stepanova M
Gastroenterology 2016 Jun;150(7):1599-1608. Epub 2016 Feb 26 doi: 10.1053/j.gastro.2016.02.039. PMID: 26924097
Patterson AT, Kaffenberger BH, Keller RA, Elston DM
J Am Acad Dermatol 2016 Jan;74(1):143-70. Epub 2015 Jul 22 doi: 10.1016/j.jaad.2015.05.006. PMID: 26210237
Bonnot O, Klünemann HH, Sedel F, Tordjman S, Cohen D, Walterfang M
Orphanet J Rare Dis 2014 Apr 28;9:65. doi: 10.1186/1750-1172-9-65. PMID: 24775716Free PMC Article
Kroft EB, Berkhof NJ, van de Kerkhof PC, Gerritsen RM, de Jong EM
J Am Acad Dermatol 2008 Dec;59(6):1017-30. Epub 2008 Oct 2 doi: 10.1016/j.jaad.2008.07.042. PMID: 18835066
Gisbert JP, García-Buey L, Pajares JM, Moreno-Otero R
J Hepatol 2003 Oct;39(4):620-7. doi: 10.1016/s0168-8278(03)00346-5. PMID: 12971974

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