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

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.

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.

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

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.