Lachmann, H.J.;
Booth, D.R.;
Booth, S.E.;
Bybee, A.;
Gilbertson, J.A.;
Gillmore, J.D.;
Pepys, M.B.;
(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.
Type: | Article |
---|---|
Title: | Misdiagnosis of hereditary amyloidosis as AL (Primary) amyloidosis |
Open access status: | An open access version is available from UCL Discovery |
DOI: | 10.1056/NEJMoa013354 |
Publisher version: | http://dx.doi.org/10.1056/NEJMoa013354 |
Language: | English |
Additional information: | Published by the Massachusetts Medical Society |
UCL classification: | UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation |
URI: | https://discovery.ucl.ac.uk/id/eprint/8123 |
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