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N Engl J Med. 2002 Jun 6;346(23):1786-91.

Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

Author information

1
National Amyloidosis Centre, Department of Medicine, Royal Free and University College Medical School, Royal Free Campus, London, United Kingdom.

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.

Comment in

PMID:
12050338
DOI:
10.1056/NEJMoa013354
[Indexed for MEDLINE]
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