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Published on: January 14, 2011
Gamma Heavy-Chain Disease Presenting with Hypercalcaemia and Ascites
Imane El Boutahiri1, Kmar Mrad1, Pauline Lionne1
1Service d'Hématologie, Centre Hospitalier d'ARRAS, Arras, France.
Insights
Gamma heavy-chain disease (gHCD), a rare disorder, involves producing abnormal gamma heavy chains. A case study shows successful treatment with rituximab, bortezomib, and prednisone, achieving sustained remission.
Area of Science:
- Hematology
- Oncology
- Rare Diseases
Background:
- Gamma heavy-chain disease (gHCD) is a rare lymphoproliferative disorder.
- It is characterized by the production of truncated gamma heavy chains lacking light chains.
Purpose of the Study:
- To present a case of gHCD in a patient with chronic lymphocytic leukemia.
- To highlight diagnostic and therapeutic challenges and underscore individualized management.
Main Methods:
- Case report of a 79-year-old male with chronic lymphocytic leukemia.
- Diagnosis confirmed by detection of monoclonal gamma heavy chains without light chains in serum.
- Treatment involved a combination of rituximab, bortezomib, and prednisone.
Main Results:
- The patient achieved complete remission.
- Remission was sustained for two years.
- The combination therapy demonstrated an anti-tumor effect in CD20-expressing gHCD.
Conclusions:
- Gamma heavy-chain disease should be considered in patients with unexplained monoclonal gammopathy and atypical presentations like hypercalcaemia and ascites.
- Combination therapy including rituximab and chemotherapy is effective for CD20-expressing gHCD.
Abstract:
Gamma heavy-chain disease (gHCD) is a rare lymphoproliferative disorder characterised by the production of truncated gamma heavy chains that are not associated with light chains. We present the case of a 79-year-old man with a known history of chronic lymphocytic leukaemia who presented with acute confusion, hypercalcaemia and ascites. Workup revealed monoclonal gamma heavy chains in serum without corresponding light chains. Treatment with a combination of rituximab, bortezomib and prednisone resulted in complete remission, sustained over two years. This case highlights the diagnostic and therapeutic challenges of gHCD and underscores the importance of individualised management.
Learning Points:
Consider gamma heavy-chain disease in patients with unexplained monoclonal gammopathy and atypical presentations, such as hypercalcaemia and ascites.A combination of rituximab and chemotherapy shows an anti-tumour effect in gamma heavy-chain disease expressing CD20.
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