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. 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.

Heavy chain diseases comprise a rare heterogeneous group of B-cell lymphoproliferative disorders characterized by the production of a truncated monoclonal immunoglobulin heavy chain without an associated immunoglobulin light chain. Gamma heavy chain disease often resembles lymphoplasmacytic lymphoma clinically and histopathologically. Its diagnosis requires the demonstration of monoclonal heavy chains in the serum or urine. We present the clinical and pathologic history of a 69-year-old woman who was incidentally identified with a monotypic B-cell population during routine flow cytometry for her untreated T-cell large granular lymphocytic leukemia. Further workup was consistent with a diagnosis of gamma heavy chain disease.

We report on the use of a daratumumab-CHOP regimen for treatment of gamma heavy chain disease (γHCD) in a 79-year-old woman. γHCD is a very rare hematological disease, often associated with an underlying lymphoproliferative disorder. Only a few cases are reported in the literature, and, therefore, strong evidence is lacking regarding new therapeutic strategies. We attempted a treatment with a monoclonal anti-CD38 antibody in association with conventional chemothorapy, due to CD38 expression by clonal cells. This is the first reported case in the literature, in a disease in which very few novel strategies have recently emerged. Gamma heavy chain disease (γHCD) is a very rare blood cancer that affects a type of white blood cell called B lymphocytes. In this disease, the body produces abnormal antibodies that lack part of their normal structure. Because it is so uncommon, there is no standard treatment, and very few cases have been reported. We describe the case of a 79-year-old woman diagnosed with γHCD. Her cancer cells were found to express a protein called CD38. Based on this, we chose to treat her with an immunotherapy called daratumumab, which specifically targets CD38, combined with standard chemotherapy. This combination led to a temporary improvement, with a reduction in the size of her tumors. Unfortunately, the disease came back quickly after treatment ended. It spread to her brain, a rare and serious complication. A brain biopsy confirmed that the lymphoma had transformed into a more aggressive form known as diffuse large B-cell lymphoma. This case is the first reported use of a daratumumab-based treatment in γHCD. It suggests that this type of therapy could be considered for future patients whose cancer cells express CD38. More research and shared experience are needed to guide treatment for this rare condition.

Heavy chain diseases (HCDs) are rare B-cell/plasma cell disorders characterized by secretion of truncated immunoglobulin heavy chains without light chains. Pulmonary involvement has been described but is typically limited to interstitial or infiltrative patterns; whereas, cystic lung disease is exceptionally rare. We report a 23-year-old previously healthy male who presented with recurrent spontaneous pneumothoraces over a two-year period. High-resolution computed tomography revealed numerous bilateral thin-walled cysts with upper-lobe predominance, with several of these abutting the pleural surface. Laboratory evaluation demonstrated a discrete monoclonal spike on serum protein electrophoresis, and immunofixation confirmed an isolated IgG heavy chain without light chains, consistent with γ-heavy chain disease (γ-HCD). Bone marrow biopsy showed a mild increase in plasma cells (5-10%) without overt malignancy, and alternative causes of cystic lung disease, including Birt-Hogg-Dubé syndrome, autoimmune disease, α1-antitrypsin deficiency, and HIV, were excluded. This case highlights γ-HCD as a rare cause of diffuse cystic lung disease with recurrent pneumothorax, expanding the pulmonary spectrum of heavy-chain dyscrasias. The radiographic overlap with light-chain deposition disease emphasizes the need to include monoclonal gammopathies in the differential diagnosis of unexplained cystic lung disease. Recognition of γ-HCD in this context is clinically important, as it may precede lymphoproliferative malignancy and mandates careful longitudinal surveillance. Sunkiųjų grandinių ligos (SGL) – retos B limfocitų / plazminių ląstelių kilmės sutrikimų formos, kurioms būdinga sutrumpėjusių imunoglobulinų sunkiųjų grandinių sekrecija be lengvųjų grandinių. Plaučių pažeidimas dažniausiai pasireiškia intersticiniais ar infiltraciniais pokyčiais; cistinė plaučių liga išskirtinai reta. Sveikam 23 metų vyrui dvejus metus kartojosi spontaniniai pneumotoraksai. Aukštos raiškos kompiuterinė plaučių tomografija parodė esant daugybines abipuses plonasienių cistų struktūras – dominavo viršutinės skiltys, kai kurios iš jų siekė pleurą. Laboratoriniai tyrimai atskleidė diskretinį monokloninį piką serumo baltymų elektroforezėje, o imunofiksacija patvirtino izoliuotą IgG sunkiąją grandinę be lengvųjų grandinių, kas atitiko γ-sunkiųjų grandinių ligos (γ-SGL) diagnozę. Atlikus kaulų čiulpų biopsiją nustatyta nežymi plazminių ląstelių proliferacija (5–10 %), tačiau nebuvo piktybiškumo požymių. Kitos galimos cistinės plaučių ligos priežastys (Birt-Hogg-Dubé sindromas, autoimuninės ligos, α1- antitripsino stoka, ŽIV infekcija) buvo atmestos. Šiuo atveju pabrėžiama, kad γ-SGL yra reta difuzinės cistinės plaučių ligos ir pasikartojančio spontaninio pneumotorakso priežastis. Ligą nustatyti šioje klinikinėje situacijoje yra itin svarbu, nes ji gali būti priešpiktybinės limfoproliferacinės būklės išraiška ir reikia nuolatinės stebėsenos.