Fibrinogen A alpha-chain associated amyloidosis: Difference between revisions
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==Natural History, Complications, and Prognosis== | ==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. | Patients with fibrinogen amyloidosis usually develop chronic kidney disease, typically progressing to end-stage renal disease within 5 years of recognition of renal involvement.<ref name="pmid28359658">{{cite journal| author=Tavares I, Oliveira JP, Pinho A, Moreira L, Rocha L, Santos J et al.| title=Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing. | journal=Am J Kidney Dis | year= 2017 | volume= 70 | issue= 2 | pages= 235-243 | pmid=28359658 | doi=10.1053/j.ajkd.2017.01.048 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28359658 }}</ref><br /> | ||
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==Diagnosis== | ==Diagnosis== | ||
===Diagnostic Study of Choice=== | ===Diagnostic Study of Choice=== | ||
There is no single diagnostic study of choice for the diagnosis of fibrinogden amyloidosis, but it 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. | |||
===History and Symptoms=== | ===History and Symptoms=== |
Revision as of 23:55, 5 November 2019
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 (AFib) amyloidosis 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
Pathophysiology
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.[2]
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.[3]
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 suggestsfibrinogen A alpha-chain amyloidosis is the leading cause of hereditary renal amyloidosis associated with nephrotic syndrome in the United States.
Risk Factors
Screening
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.[4]
Diagnosis
Diagnostic Study of Choice
There is no single diagnostic study of choice for the diagnosis of fibrinogden amyloidosis, but it 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.
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
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.[5]
Surgery
Primary Prevention
Secondary Prevention
References
- ↑ 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.
- ↑ 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.
- ↑ Benson MD (2005). "Ostertag revisited: the inherited systemic amyloidoses without neuropathy". Amyloid. 12 (2): 75–87. doi:10.1080/13506120500106925. PMID 16011983.
- ↑ 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.
- ↑ 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.