Lymphoma and plasma cell neoplasms
Plasma cell neoplasms
Heavy chain disease

Author: Nikhil Sangle, M.D. (see Authors page)

Revised: 3 April 2017, last major update March 2011

Copyright: (c) 2001-2017, PathologyOutlines.com, Inc.

PubMed Search: heavy chain disease lymphoma

Cite this page: Heavy chain disease. PathologyOutlines.com website. http://pathologyoutlines.com/topic/lymphomaheavychain.html. Accessed August 21st, 2017.
Definition / general
  • Rare malignant disorders (100 cases reported) with secretion of IgH fragments (not complete immunoglobulin)
Clinical features
  • IgM (μ) resembles CLL
  • IgG (γ) resembles lymphoplasmacytic lymphoma
  • IgA (α) resembles Mediterranean lymphoma; is also called Immunoproliferative small intestinal disease (IPSID)
  • IPSID is the most common type, μ heavy chain disease least common
  • 25% are associated with autoimmune diseases
Laboratory
  • Localized band in β1 or β2 regions in 60% without corresponding light chain
  • 40% have no detectable abnormality by serum electrophoresis; immunofixation electrophoresis (IFE) is essential to detect aberrant heavy chain

μ heavy chain disease: differs from CLL in the high frequency of hepatosplenomegaly and absence of peripheral lymphadenopathy; has mixture of plasma cells and B lymphocytes with monoclonal cytoplasmic μ heavy chain

γ heavy chain disease: median age 60 years; lymph nodes are commonly involved, show polymorphous population of lymphocytes, plasma cells, plasmacytoid lymphocytes, eosinophils, histiocytes and immunoblasts; B cell immunophenotype with monoclonal cytoplasmic γ chain without light chains; variable prognosis

IPSID: affects young adults of Mediterranean origin; associated with Campylobacter jejuni; patients present with malabsorption, wasting, diarrhea, abdominal pain, hypocalcemia; lamina propria of small intestine is infiltrated with plasma cells and lymphocytes; may show lymphoepithelial lesions; composed of B cells with monoclonal cytoplasmic α chain without light chain; favorable response to anthracycline containing regimens; may progress to diffuse large B cell lymphoma
Case reports
Microscopic (histologic) images

Images hosted on other servers:

With lymphocyte predominant Hodgkin lymphoma

Gel of heavy chain disease

Molecular / cytogenetics description
  • Immunoglobulin heavy chain genes are clonally rearranged, with somatic hypermutation
  • Deletions in heavy chain gene result in defective heavy chain protein that cannot bind to light chain to form complete Ig molecule