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Previous Volume 346:1786-1791 June 6, 2002 Number 23 Next

	Full Text PDF PDA Full Text PowerPoint Slide Set Editorial by Saraiva, M. J. M. Letters Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

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.

Source Information

From the National Amyloidosis Centre and Centre for Amyloidosis and Acute Phase Proteins, Department of Medicine, Royal Free and University College Medical School, Royal Free Campus, London.

Address reprint requests to Dr. Hawkins at the National Amyloidosis Centre, Department of Medicine, Royal Free and University College Medical School, Royal Free Campus, Rowland Hill St., London NW3 2PF, United Kingdom, or at p.n.hawkins{at}rfc.ucl.ac.uk.

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Related Letters:

Hereditary Amyloidosis
Palladini G., Obici L., Merlini G., Solomon A., Westermark P., Hawkins P. N., Lachmann H. J., Pepys M. B.
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N Engl J Med 2002; 347:1206-1207, Oct 10, 2002. Correspondence

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