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The heavy chain diseases

Author
S Vincent Rajkumar, MD
Section Editor
Robert A Kyle, MD
Deputy Editor
Rebecca F Connor, MD

INTRODUCTION

The heavy chain diseases (HCDs) are rare B cell proliferative disorders characterized by the production of a monoclonal (M) protein consisting of a portion of the immunoglobulin heavy chain without a bound light chain [1-6]. The heavy chain in HCD is often incomplete or truncated and a sharp, localized peak may not be seen on the electrophoretic tracing of serum or urine.

The HCDs will be reviewed here. Heavy chain deposition disease is a different disorder that is discussed in detail elsewhere, in which abnormal heavy chains or short (truncated) heavy chains cause fibrillar or granular tissue deposits. (See "Pathogenesis of immunoglobulin light chain (AL) amyloidosis and light and heavy chain deposition diseases" and "Prognosis and treatment of immunoglobulin light chain (AL) amyloidosis and light and heavy chain deposition diseases".)

OVERVIEW

Three types of HCDs are recognized, based upon the class of immunoglobulin heavy chain produced (eg, alpha, gamma, mu) by the malignant cell [3,5,6]:

Alpha HCD is a form of mucosa associated lymphoid tissue (MALT) lymphoma that is also called immunoproliferative small intestinal disease (IPSID), Mediterranean lymphoma, or Seligmann disease. (See 'Alpha HCD' below and "Clinical presentation and diagnosis of primary gastrointestinal lymphomas", section on 'Lymphoma of the small intestine' and "Clinical manifestations, pathologic features, and diagnosis of extranodal (MALT) and nodal marginal zone lymphomas".)

Gamma HCD (Franklin's disease) is typically associated with the presence of a systemic lymphoma, often of mixed lymphoid-plasmacytic character. (See 'Gamma HCD' below.)

             

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Literature review current through: Nov 2016. | This topic last updated: Fri Oct 28 00:00:00 GMT+00:00 2016.
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