Familial Al-amyloidosis in three Italian siblings

A. Miliani, F. Bergesio, M. Salvadori, A. Amantini, M. Macucci, E. Arbustini, A. Becucci, A. Sodi, S. Zuccarini, A. Menicucci, F. Torricelli, T. Capobianco, S. Di Lollo, E. Piazza, F. Gemmi, F. Cozzolino, G. Merlini

Research output: Contribution to journalArticlepeer-review

Abstract

Background and Methods. Familial occurrence of immunoglobulin-related (AL) amyloidosis has occasionally been reported. In this work we describe the concomitance of systemic amyloidosis and monoclonal gammopathy (one case of Waldenstrom's macroglobulinemia and two eases without multiple myeloma or related diseases) in three Italian siblings, two males and one female. Results and Conclusions. All of them showed a common pattern of polyneuropathy to different degrees; two presented a sicca syndrome and one also suffered from nephropathy. Two of them showed the same HLA typing with the same light chain type (k), but had different presenting symptoms Polyneuropathy and a history of peptic disease in two eases was suggestive of type III familial amyloidotic polyneuropathy (FAP) occurring in the setting of a familial monoclonal component. However, immunohistochemical studies on different tissue specimens using anti-apolipoprotein A1 and anti- transthyretin antibodies were negative. Further screening of DNA samples for transthyretin (TTR) gene mutations was also negative. Clinical and laboratory investigations ruled out reactive or senile amyloidosis and immunohistochemical studies with anti-light chain antibodies on amyloidotic tissue specimens were positive. As a consequence, this family represents a new case of familial AL-amyloidosis.

Original languageEnglish
Pages (from-to)105-109
Number of pages5
JournalHaematologica
Volume81
Issue number2
Publication statusPublished - 1996

Keywords

  • AL-amyloidosis
  • Familia amyloidosis
  • Monoclonal gammopathies
  • Waldenstrom's macroglobulinemia

ASJC Scopus subject areas

  • Hematology

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