Heavy chain disease

Key information

Appropriate Tests

Rare B cell disorder characterised by production of truncated heavy chains of immunoglobulins, without associated light chain production. Three types based on the class of heavy chain produced:

See also Paraproteinaemia.

Diagnosis depends on demonstration of cells in affected tissue staining for heavy chain without any light chain components (lymph nodes, bone marrow, hepatosplenomegaly).

Protein electrophoresis, Paraprotein typing. Bone marrow biopsy (aspiration and trephine).

α Heavy chain disease

 

Malabsorption

  • Diarrhoea

 

γ Heavy chain disease

 

Uvular/palatal oedema

 

Hepatomegaly

 

Lymphadenopathy

 

μ Heavy chain disease

May be associated with Chronic lymphocytic leukaemia.

Hepatomegaly

 

Splenomegaly