Systemic amyloidosis in a patient with hypogammaglobulinaemia

Abstract

A 49-year-old patient with an 18-year history of hypogammaglobulinaemia presented with nephrotic syndrome due to systemic amyloidosis. Recurrent infections as a consequence of an inadequate gammaglobulin substitution therapy were regarded as the main reason for the development of amyloidosis. When a high-dose intravenous immunoglobulin therapy was started, the clinical symptoms declined and the patient felt moderately well. Later the patient developed symmetrical polyarthritis clinically suggestive of rheumatoid arthritis. Although the incidence of arthritis is increased in hypogammaglobulinaemia, arthritis has not been reported in any of the few previously described patients with hypogammaglobulinaemia-associated amyloidosis. Moreover, this case provides further evidence that, in these patients, the amyloid fibrils may be of the AA type.

AA Amyloidosis: Mount Sinai Experience, 1997–2012

“…We found a number of rare causes of AA amyloidosis that nevertheless have been well described in the literature, notably common variable immunodeficiency (likely due to the chronic infections seen in these patients),6–8 renal cell carcinoma,9,10 non‐Hodgkin lymphoma, and human immunodeficiency virus (HIV) in the setting of injection drug use 11. Renal cell carcinoma is the most common solid malignancy associated with AA amyloidosis, possibly due to its potential for IL‐6 production 12,13.…”

Metastatic Thymoma with Good’s Syndrome Mimicking Bronchiectasis

“…Although the pathogenesis is not understood completely, continuous chronic infection seems to be a triggering factor for the deposition of amyloid in different tissues. 7 Amyloidosis developed in our patient because of inadequate treatment of hypogammaglobulinemia and related infections for three years. The association of amyloidosis, hypogammaglobulinemia and thymoma was first described by Conn et al in their postmortem study of a patient with thymoma, amyloidosis and hypogammaglobulinemia.…”

Renal Manifestations of Common Variable Immunodeficiency

“…Eight patients had an acute interstitial nephritis [17][18][19][20][21][22] , one of which was granulomatous, and one of which occurred concurrently with MG. Eight cases showed AA amyloidosis [23][24][25][26][27][28][29][30] . Other reported cases include minimal change disease (n=1) 31 , anti-GBM nephritis (n=1) 32 , and acute tubular necrosis 33 (n=1, see table 3).…”