Clinical Laboratory, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Spain.
Hematology Department, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Spain.
Biochem Med (Zagreb). 2018 Feb 15;28(1):010802. doi: 10.11613/BM.2018.010802.
Heavy chain diseases (HCD) are B-cell lymphoprolipherative disorders characterized by the production of monoclonal heavy chains without associated light chains. Some cases of gamma-HCD (γ-HCD) are concurrent with other lymphoid neoplasm. The monoclonal component is not always detectable by serum electrophoresis, and often an immunofixation procedure is necessary to detect this component. Prognosis is variable, and no established guidelines for follow-up are available. We describe a case of a challenging diagnosis of γ-HCD due to the absence of clinical signs frequently reported in the disease (anaemia and palatal oedema among others). Haematological malignancy was the first suspicion but bone marrow examination was negative. In addition, the presence of an autoimmune bicytopenia and a Klinefelter syndrome complicated the clinical context of the patient. A thoracoabdominal computed tomography reported many small adenopathies whose pathological and immunohystochemical study revealed a follicular lymphoma. Shortly after, serum inmunofixation secondary to an abnormal electrophoretic pattern revealed a gamma paraprotein without light chains. Eventually, γ-HCD in association with follicular lymphoma was the final diagnosis. This is the first case reporting this association.
重链病（HCD）是一种 B 细胞淋巴增生性疾病，其特征是产生无相关轻链的单克隆重链。一些γ-HCD（γ-HCD）病例与其他淋巴肿瘤同时发生。单克隆成分并不总是可通过血清电泳检测到，通常需要免疫固定程序来检测该成分。预后各不相同，目前尚无可用的随访指南。我们描述了一例由于疾病中经常报道的临床症状（贫血、腭水肿等）缺失而导致诊断困难的γ-HCD 病例。最初怀疑是血液系统恶性肿瘤，但骨髓检查为阴性。此外，自身免疫性双细胞减少症和 Klinefelter 综合征的存在使患者的临床情况复杂化。胸部和腹部计算机断层扫描报告了许多小的淋巴结病，其病理和免疫组织化学研究显示为滤泡性淋巴瘤。不久之后，异常电泳模式下的血清免疫固定揭示了没有轻链的γ副蛋白。最终，与滤泡性淋巴瘤相关的γ-HCD 是最终诊断。这是首例报告这种关联的病例。
