U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

AFib amyloidosis

MedGen UID:
1826152
•Concept ID:
C5680267
•
Disease or Syndrome
Synonyms: Familial amyloid nephropathy due to fibrinogen A alpha-chain variant; familial amyloid nephropathy due to fibrinogen A alpha-chain variant; Fibrinogen A alpha-chain amyloidosis; fibrinogen A alpha-chain amyloidosis; Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant; hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant; Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant; hereditary renal amyloidosis due to fibrinogen A alpha-chain variant
Modes of inheritance:
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 dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019733
Orphanet: ORPHA93562

Definition

A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • AFib amyloidosis

Professional guidelines

PubMed

Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing.
Tavares I, Oliveira JP, Pinho A, Moreira L, Rocha L, Santos J, Pinheiro J, Costa PP, Lobato L
Am J Kidney Dis 2017 Aug;70(2):235-243. Epub 2017 Mar 27 doi: 10.1053/j.ajkd.2017.01.048. PMID: 28359658

Recent clinical studies

Etiology

Organ Transplantation in Hereditary Fibrinogen A α-Chain Amyloidosis: A Case Series of French Patients.
Meyer L, Ulrich M, Ducloux D, Garrigue V, Vigneau C, Nochy D, Bobrie G, Ferlicot S, Colombat M, Boffa JJ, Clabault K, Mansour J, Mousson C, Azar R, Bacri JL, Dürrbach A, Duvic C, El Karoui K, Hoffmann M, Lionet A, Panescu V, Plaisier E, Ratsimbazafy A, Guerrot D, Vrigneaud L, Valleix S, François H
Am J Kidney Dis 2020 Sep;76(3):384-391. Epub 2020 Jul 10 doi: 10.1053/j.ajkd.2020.02.445. PMID: 32660897
Pathology and diagnosis of renal non-AL amyloidosis.
Sethi S, Theis JD
J Nephrol 2018 Jun;31(3):343-350. Epub 2017 Aug 21 doi: 10.1007/s40620-017-0426-6. PMID: 28828707
Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing.
Tavares I, Oliveira JP, Pinho A, Moreira L, Rocha L, Santos J, Pinheiro J, Costa PP, Lobato L
Am J Kidney Dis 2017 Aug;70(2):235-243. Epub 2017 Mar 27 doi: 10.1053/j.ajkd.2017.01.048. PMID: 28359658
Prevalence and origin of amyloid in kidney biopsies.
von Hutten H, Mihatsch M, Lobeck H, Rudolph B, Eriksson M, Röcken C
Am J Surg Pathol 2009 Aug;33(8):1198-205. doi: 10.1097/PAS.0b013e3181abdfa7. PMID: 19561448

Diagnosis

Difficulties in the Diagnosis of Fibrinogen Aα-Chain Amyloidosis-Literature Review and Case Report of a Patient After Kidney Transplantation.
Ceglarz K, Gozdowska J, Świder R, Kosieradzki M, Zduńczyk D, Durlik M
Transplant Proc 2023 Apr;55(3):644-648. Epub 2023 Mar 24 doi: 10.1016/j.transproceed.2023.02.033. PMID: 36966081
Organ Transplantation in Hereditary Fibrinogen A α-Chain Amyloidosis: A Case Series of French Patients.
Meyer L, Ulrich M, Ducloux D, Garrigue V, Vigneau C, Nochy D, Bobrie G, Ferlicot S, Colombat M, Boffa JJ, Clabault K, Mansour J, Mousson C, Azar R, Bacri JL, Dürrbach A, Duvic C, El Karoui K, Hoffmann M, Lionet A, Panescu V, Plaisier E, Ratsimbazafy A, Guerrot D, Vrigneaud L, Valleix S, François H
Am J Kidney Dis 2020 Sep;76(3):384-391. Epub 2020 Jul 10 doi: 10.1053/j.ajkd.2020.02.445. PMID: 32660897
Pathology and diagnosis of renal non-AL amyloidosis.
Sethi S, Theis JD
J Nephrol 2018 Jun;31(3):343-350. Epub 2017 Aug 21 doi: 10.1007/s40620-017-0426-6. PMID: 28828707
Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing.
Tavares I, Oliveira JP, Pinho A, Moreira L, Rocha L, Santos J, Pinheiro J, Costa PP, Lobato L
Am J Kidney Dis 2017 Aug;70(2):235-243. Epub 2017 Mar 27 doi: 10.1053/j.ajkd.2017.01.048. PMID: 28359658
Prevalence and origin of amyloid in kidney biopsies.
von Hutten H, Mihatsch M, Lobeck H, Rudolph B, Eriksson M, Röcken C
Am J Surg Pathol 2009 Aug;33(8):1198-205. doi: 10.1097/PAS.0b013e3181abdfa7. PMID: 19561448

Therapy

Difficulties in the Diagnosis of Fibrinogen Aα-Chain Amyloidosis-Literature Review and Case Report of a Patient After Kidney Transplantation.
Ceglarz K, Gozdowska J, Świder R, Kosieradzki M, Zduńczyk D, Durlik M
Transplant Proc 2023 Apr;55(3):644-648. Epub 2023 Mar 24 doi: 10.1016/j.transproceed.2023.02.033. PMID: 36966081
Hereditary amyloidosis caused by R554L fibrinogen Aα-chain mutation in a Spanish family and review of the literature.
Haidinger M, Werzowa J, Kain R, Antlanger M, Hecking M, Pfaffenberger S, Mascherbauer J, Gremmel T, Gilbertson JA, Rowczenio D, Weichhart T, Kopecky C, Hörl WH, Hawkins PN, Säemann MD
Amyloid 2013 Jun;20(2):72-9. Epub 2013 Apr 3 doi: 10.3109/13506129.2013.781998. PMID: 23551149

Prognosis

Difficulties in the Diagnosis of Fibrinogen Aα-Chain Amyloidosis-Literature Review and Case Report of a Patient After Kidney Transplantation.
Ceglarz K, Gozdowska J, Świder R, Kosieradzki M, Zduńczyk D, Durlik M
Transplant Proc 2023 Apr;55(3):644-648. Epub 2023 Mar 24 doi: 10.1016/j.transproceed.2023.02.033. PMID: 36966081
Organ Transplantation in Hereditary Fibrinogen A α-Chain Amyloidosis: A Case Series of French Patients.
Meyer L, Ulrich M, Ducloux D, Garrigue V, Vigneau C, Nochy D, Bobrie G, Ferlicot S, Colombat M, Boffa JJ, Clabault K, Mansour J, Mousson C, Azar R, Bacri JL, Dürrbach A, Duvic C, El Karoui K, Hoffmann M, Lionet A, Panescu V, Plaisier E, Ratsimbazafy A, Guerrot D, Vrigneaud L, Valleix S, François H
Am J Kidney Dis 2020 Sep;76(3):384-391. Epub 2020 Jul 10 doi: 10.1053/j.ajkd.2020.02.445. PMID: 32660897
Pathology and diagnosis of renal non-AL amyloidosis.
Sethi S, Theis JD
J Nephrol 2018 Jun;31(3):343-350. Epub 2017 Aug 21 doi: 10.1007/s40620-017-0426-6. PMID: 28828707
Hereditary amyloidosis caused by R554L fibrinogen Aα-chain mutation in a Spanish family and review of the literature.
Haidinger M, Werzowa J, Kain R, Antlanger M, Hecking M, Pfaffenberger S, Mascherbauer J, Gremmel T, Gilbertson JA, Rowczenio D, Weichhart T, Kopecky C, Hörl WH, Hawkins PN, Säemann MD
Amyloid 2013 Jun;20(2):72-9. Epub 2013 Apr 3 doi: 10.3109/13506129.2013.781998. PMID: 23551149
Mutant fibrinogen A-alpha-chain associated with hereditary renal amyloidosis and peripheral neuropathy.
de Carvalho M, Linke RP, Domingos F, Evangelista T, Ducla-Soares JL, Nathrath WB, Azevedo-Coutinho C, Lima R, Saraiva MJ
Amyloid 2004 Sep;11(3):200-7. doi: 10.1080/13506120400000772. PMID: 15523923

Clinical prediction guides

Difficulties in the Diagnosis of Fibrinogen Aα-Chain Amyloidosis-Literature Review and Case Report of a Patient After Kidney Transplantation.
Ceglarz K, Gozdowska J, Świder R, Kosieradzki M, Zduńczyk D, Durlik M
Transplant Proc 2023 Apr;55(3):644-648. Epub 2023 Mar 24 doi: 10.1016/j.transproceed.2023.02.033. PMID: 36966081
Organ Transplantation in Hereditary Fibrinogen A α-Chain Amyloidosis: A Case Series of French Patients.
Meyer L, Ulrich M, Ducloux D, Garrigue V, Vigneau C, Nochy D, Bobrie G, Ferlicot S, Colombat M, Boffa JJ, Clabault K, Mansour J, Mousson C, Azar R, Bacri JL, Dürrbach A, Duvic C, El Karoui K, Hoffmann M, Lionet A, Panescu V, Plaisier E, Ratsimbazafy A, Guerrot D, Vrigneaud L, Valleix S, François H
Am J Kidney Dis 2020 Sep;76(3):384-391. Epub 2020 Jul 10 doi: 10.1053/j.ajkd.2020.02.445. PMID: 32660897
Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing.
Tavares I, Oliveira JP, Pinho A, Moreira L, Rocha L, Santos J, Pinheiro J, Costa PP, Lobato L
Am J Kidney Dis 2017 Aug;70(2):235-243. Epub 2017 Mar 27 doi: 10.1053/j.ajkd.2017.01.048. PMID: 28359658
Mutant fibrinogen A-alpha-chain associated with hereditary renal amyloidosis and peripheral neuropathy.
de Carvalho M, Linke RP, Domingos F, Evangelista T, Ducla-Soares JL, Nathrath WB, Azevedo-Coutinho C, Lima R, Saraiva MJ
Amyloid 2004 Sep;11(3):200-7. doi: 10.1080/13506120400000772. PMID: 15523923

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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...