Fibrinogen A alpha-chain associated amyloidosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Synonyms and Keywords: Fibrinogen amyloidosis

Overview

Fibrinogen A a-chain amyloidosis (AFib) is a systemic disease caused by extracellular deposition of insoluble amyloid fibrils composed of abnormal fibrinogen, arising from autosomal-dominant mutations in the gene encoding AFib.

Historical Perspective

Fibrinogen amyloidosis was first discovered by Dr Merill Benson et al, an American physician, in 1993.[1]

Classification

There is no established system for the classification of fibrinogen Aα-chain amyloidosis.

However, the disease is caused by the extracellular deposition of amyloid fibrils induced by mutations in fibrinogen Aα-chain gene (FGA).[2]

Fibrinogen Aα-chain amyloidosis may be classified according to the mutations. To date, around 16 amyloidogenic FGA mutations have been identified.[3]

Pathophysiology

Fibrinogen A a-chain amyloidosis is a systemic amyloid disease with multivisceral and neurologic involvement, and is associated with cardiac amyloid deposition and amyloid angiopathy and atheromatosis.

Fibrinogen is a plasma protein with a crucial role in the coagulation cascade through its conversion to fibrin

It is composed of 2 identical sets of 3 polypeptide chains termed A α, B β, and γ, joined by disulfide bridging.

Each polypeptide is encoded by a distinct gene, FGA, FGB, and FGG.

The gene for the fibrinogen A α-chain with 610 amino acid residues is localized on chromosome 4 and has 6 exons.[4]

Mutations in any of the 3 genes encoding for fibrinogen polypeptides can cause dysfibrinogenemias, coagulation disorders caused by a variety of structural abnormalities in the fibrinogen molecule that result in abnormal fibrinogen function.

Recently identified mutations in the A α-chain gene can lead to hereditary systemic amyloidosis.[5]

Causes


Epidemiology and Demographics

is emerging as the most common type of all hereditary renal amyloid diseases in the United Kingdom and Europe.

A tertiary US amyloid reference center suggests fibrinogen A alpha-chain amyloidosis is the leading cause of hereditary renal amyloidosis associated with nephrotic syndrome in the United States.

Risk Factors

There are no specific risk factors associate with fibrinogen A alpha-chain amyloidosis.

Screening

There is insufficient evidence to recommend routine screening for Fibrinogen A a-chain amyloidosis.

Natural History, Complications, and Prognosis

Patients with fibrinogen amyloidosis usually develop chronic kidney disease, typically progressing to end-stage renal disease within 5 years of recognition of renal involvement.[6]

Diagnosis

Diagnostic Study of Choice

  • There is no single diagnostic study of choice for the diagnosis of fibrinogen amyloidosis.
  • However, fibrinogen amyloidosis can be diagnosed based on the occurrence of proteinuric nephropathy, positive family history, identification of amyloid deposits in affected tissues by immunohistochemistry or mass spectrometry, and detection of an FGA amyloidogenic genetic variant.[7]

History and Symptoms


Physical Examination


Laboratory Findings


Electrocardiogram


X-ray

There are no x-ray findings associated with fibrinogden amyloidosis.

Echocardiography or Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Fibrinogen production is exclusively hepatic. Isolated renal transplantation as a treatment for renal failure in fibrinogen amyloidosis is of limited value.[8]

Surgery

Primary Prevention

Secondary Prevention

References

  1. Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R (1993). "Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain". Nat Genet. 3 (3): 252–5. doi:10.1038/ng0393-252. PMID 8097946.
  2. Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R (1993). "Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain". Nat Genet. 3 (3): 252–5. doi:10.1038/ng0393-252. PMID 8097946.
  3. Rowczenio D, Stensland M, de Souza GA, Strøm EH, Gilbertson JA, Taylor G; et al. (2017). "Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein". Kidney Int Rep. 2 (3): 461–469. doi:10.1016/j.ekir.2016.11.005. PMC 5678610. PMID 29142973.
  4. Matsuda M, Sugo T (2001). "Hereditary disorders of fibrinogen". Ann N Y Acad Sci. 936: 65–88. doi:10.1111/j.1749-6632.2001.tb03494.x. PMID 11460526.
  5. Benson MD (2005). "Ostertag revisited: the inherited systemic amyloidoses without neuropathy". Amyloid. 12 (2): 75–87. doi:10.1080/13506120500106925. PMID 16011983.
  6. Tavares I, Oliveira JP, Pinho A, Moreira L, Rocha L, Santos J; et al. (2017). "Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing". Am J Kidney Dis. 70 (2): 235–243. doi:10.1053/j.ajkd.2017.01.048. PMID 28359658.
  7. Gillmore JD, Lachmann HJ, Rowczenio D, Gilbertson JA, Zeng CH, Liu ZH; et al. (2009). "Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis". J Am Soc Nephrol. 20 (2): 444–51. doi:10.1681/ASN.2008060614. PMC 2637055. PMID 19073821.
  8. Mousson C, Heyd B, Justrabo E, Rebibou JM, Tanter Y, Miguet JP; et al. (2006). "Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene". Am J Transplant. 6 (3): 632–5. doi:10.1111/j.1600-6143.2005.01199.x. PMID 16468976.



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