Gamma Heavy Chain Disease - Diagnostic Challenges in an Unusual Case and a Brief Synopsis of the Current Literature.

BACKGROUND: Gamma heavy chain disease is a disorder characterized by the production of truncated heavy chains without associated light chains. Clinical manifestations differ greatly. Thus far no standard treatment has been formulated.

METHODS: We report a case of Franklin's disease, which proved diagnostically challenging due to the absence of symptoms and disorders frequently associated with the disease.

RESULTS: Standard screening tests for monoclonal gammopathy remained unremarkable. Serum immunofixation detected monoclonal truncated gamma heavy chains.

CONCLUSIONS: Serum immunofixation should be performed, if heavy chain disease is strongly suspected. Flow cytometry and genetic evaluation are needed to provide additional insights into Franklin's disease.