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Gamma Heavy Chain Disease - Diagnostic Challenges in an Unusual Case and a Brief Synopsis of the Current Literature by Ingo Mrosewski, Matthias Urbank

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.

DOI: 10.7754/Clin.Lab.2019.190623