Lachmann, H.J.; Booth, D.R.; Booth, S.E.; Bybee, A.; Gilbertson, J.A.; Gillmore, J.D.; Pepys, M.B.; Lachmann, H.J.; Booth, D.R.; Booth, S.E.; Bybee, A.; Gilbertson, J.A.; Gillmore, J.D.; Pepys, M.B.; Hawkins, P.N.; - view fewer (2002) Misdiagnosis of hereditary amyloidosis as AL (Primary) amyloidosis. New England Journal of Medicine , 346 (23) pp. 1786-1791. 10.1056/NEJMoa013354.

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Abstract

Background: Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen A -chain, lysozyme, or apolipoprotein A-I, is thought to be extremely rare and is not routinely included in the differential diagnosis of systemic amyloidosis unless there is a family history. Methods: We studied 350 patients with systemic amyloidosis, in whom a diagnosis of the light-chain (AL) type of the disorder had been suggested by clinical and laboratory findings and by the absence of a family history, to assess whether they had amyloidogenic mutations. Results: Amyloidogenic mutations were present in 34 of the 350 patients (9.7 percent), most often in the genes encoding fibrinogen A -chain (18 patients) and transthyretin (13 patients). In all 34 of these patients, the diagnosis of hereditary amyloidosis was confirmed by additional investigations. A low-grade monoclonal gammopathy was detected in 8 of the 34 patients (24 percent). Conclusions: A genetic cause should be sought in all patients with amyloidosis that is not the reactive systemic amyloid A type and in whom confirmation of the AL type cannot be obtained.

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