DOI: 10.12890/2026_005987
Gamma heavy-chain disease presenting with hypercalcaemia and ascites
Authors
louis.terriou@chu-lille.fr
Keywords
Gamma heavy-chain disease, lymphoproliferative disorder, hypercalcaemia, ascites, rituximabAbstract
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.
References
- Ramasamy I, Rudzki Z. Two cases of gamma-heavy chain disease and a review of the literature. Case Rep Hematol 2018;2018:4832619. doi:10.1155/2018/4832619
- Singer S, Efebera Y, Bumma N, Khan A, Devarakonda S, Chaudhry M, et al. Heavy lifting: nomenclature and novel therapy for gamma heavy chain disease and other heavy chain disorders. Clin Lymphoma Myeloma Leuk 2020;20:493–498. doi: 10.1016/j.clml.2020.02.020
- Chang L, Zhou DB, Cao XX. Gamma heavy chain disease: a retrospective analysis of 6 cases. Orphanet J Rare Dis 2023;18:77. doi: 10.1186/s13023-023-02679-5
- Bieliauskas S, Tubbs RR, Bacon CM, Eshoa C, Foucar K, Gibson SE, et al. Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. Am J Surg Pathol 2012;36:534–543. doi: 10.1097/PAS.0b013e318240590a
- Takano H, Nagata K, Mikoshiba M, Nakane M, Kato A, Hamaguchi H. Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. Am J Hematol 2008;83:938–939. doi: 10.1002/ajh.21284