Hereditary ATTR amyloidosis: A single-institution experience with 266 patients

Amyloid

Volumn 22, Issue 2, 2015, Pages 123-131

  Swiecicki, Paul L ^a   Zhen, David B ^a   Mauermann, Michelle L ^a   Kyle, Robert A ^b   Zeldenrust, Steven R ^b   Grogan, Martha ^b   Dispenzieri, Angela ^b   Gertz, Morie A ^b  

^a Department of Internal Medicine ^*  (United States)

^b MAYO CLINIC   (United States)

Author keywords

Cardiomyopathy; Mutation; Peripheral neuropathy; Phenotype; Transthyretin

Indexed keywords

PREALBUMIN;

AGED; CARDIOMYOPATHY; FAMILIAL AMYLOID POLYNEUROPATHY; FAMILIAL AMYLOIDOSIS; FEMALE; GENETICS; HUMAN; KAPLAN MEIER METHOD; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; MUTATION;

AGED; AMYLOID NEUROPATHIES, FAMILIAL; AMYLOIDOSIS, FAMILIAL; CARDIOMYOPATHIES; FEMALE; HUMANS; KAPLAN-MEIER ESTIMATE; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; MUTATION; PREALBUMIN;

EID: 84934299720     PISSN: 13506129     EISSN: 17442818     Source Type: Journal    
DOI: 10.3109/13506129.2015.1019610     Document Type: Article

References (21)

1. Andrade C. A peculiar form of peripheral neuropathy: familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952;75:408-27.
2. Araki S, Mawatari S, Ohta M, Nakajima A, Kuroiwa Y. Polyneuritic amyloidosis in a Japanese family. Arch Neurol 1968; 18:593-602.
3. Andersson R. Familial amyloidosis with polyneuropathy: a clinical study based on patients living in northern Sweden. Acta Med Scand Suppl 1976;590:1-64.
4. Zeldenrust SR. Genotype: phenotype correlation in FAP. Amyloid 2012;19:22-4.
5. Arruda-Olson AM, Zeldenrust SR, Dispenzieri A, Gertz MA, Miller FA, Bielinski SJ, Klarich KW, et al. Genotype, echocardiography, and survival in familial transthyretin amyloidosis. Amyloid 2013;20:263-8.
6. Coelho T, Maurer MS, Suhr OB. THAOS: The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. Curr Med Res Opin 2013;29:63-76.
7. Benson MD, Cohen AS. Generalized amyloid in a family of Swedish origin: a study of 426 family members in seven generations of a new kinship with neuropathy, nephropathy, and central nervous system involvement. Ann Intern Med 1977;86:419-24.
8. Sousa A, Andersson R, DruggeU, Holmgren G, Sandgren O. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered 1993;43:288-94.
9. Plante-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol 2011;10:1086-97.
10. Ki M, Hattori N, Nagamatsu M, Si I, Ando Y, Nakazato M, Takei YI, et al. Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan: clinicopathological and genetic features. Brain 1999;122:1951-62.
11. Ikeda S, Nakazato M, Ando Y, Sobue G. Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 2002;58:1001-7.
12. Jacobson DR, Pastore RD, Yaghoubian R, Kane I, Gallo G, Buck FS, Buxbaum JN. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med 1997;336:466-73.
13. Plante-Bordeneuve V, Lalu T, Misrahi M, Reilly MM, Adams D, Lacroix C, Said G. Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology 1998; 51:708-14.
14. Gertz MA, Kyle RA, Thibodeau SN. Familial amyloidosis: a study of 52 North American-born patients examined during a 30-year period. Mayo Clin Proc 1992;67:428-40.
15. Hellman U, Alarcon F, Lundgren HE, Suhr OB, Bonaiti-Pellie C, Plante-Bordeneuve V. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid 2008;15:181-6.
16. Plante-Bordeneuve V, Carayol J, Ferreira A, Adams D, Clerget-Darpoux F, Misrahi M, Said G, et al. Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. J Med Genet 2003;40:e120.
17. Yamamoto K, Ikeda S, Hanyu N, Takeda S, Yanagisawa N. A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy. J Med Genet 1998;35:23-30.
18. Dungu J, Sattianayagam PT, Whelan CJ, Gibbs SD, Pinney JH, Banypersad SM, Rowczenio D, et al. The electrocardiographic features associated with cardiac amyloidosis of variant transthyretin isoleucine 122 type in Afro-Caribbean patients. Am Heart J 2012; 164:72-9.
19. Ford ES, Cooper RS. Racial/ethnic differences in health care utilization of cardiovascular procedures: a review of the evidence. Health Serv Res 1995;30:237-52.
20. Kristen AV, Perz JB, Schonland SO, Hegenbart U, Schnabel PA, Kristen JH, Goldschmidt H, et al. Non-invasive predictors of survival in cardiac amyloidosis. Eur J Heart Fail 2007;9:617-24.
21. Dewys WD, Begg C, Lavin PT, Band PR, Bennett JM, Bertino JR, Cohen MH, et al., Eastern Cooperative Oncology Group. Prognostic effect of weight loss prior to chemotherapy in cancer patients. Am J Med 1980;69:491-7.