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Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

Lachmann, HJ; Booth, DR; Booth, SE; Bybee, A; Gilbertson, JA; Gillmore, JD; Pepys, MB; (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. NEW ENGL J MED , 346 (23) 1786 - 1791.

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Abstract

Background: Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen A alpha-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 alpha-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.

Type: Article
Title: Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
Keywords: PRIMARY SYSTEMIC AMYLOIDOSIS, FIBRINOGEN ALPHA-CHAIN, RENAL AMYLOIDOSIS, TRANSTHYRETIN AMYLOIDOSIS, CARDIAC AMYLOIDOSIS, APOLIPOPROTEIN AL, ENGLISH FAMILY, P COMPONENT, CONGO RED, VARIANT
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation
URI: http://discovery.ucl.ac.uk/id/eprint/144675
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