Heavy-Chain Disease (HCD)

Heavy-chain disease (HCD) is a lymphoplasmacytic malignancy characterized by malignant monoclonal lymphoplasmocytes synthesizing/secreting large amounts of structurally homogeneous, incomplete monoclonal Ig composed only of heavy chains (HC) without light chains (LC).

Common Symptoms

Lymph-node enlargement; hepatosplenomegaly; bowel perforation; pleural effusion; dyspnea; osteolytic lesion; renal failure

Causes and Pathogenesis

(1) Etiology: B-cell mutation disrupts Ig synthesis → only HC/defective HC produced; LC+HC cannot form complete Ig; large amounts of non-functional free HC appear in plasma. Renal damage similar to primary amyloidosis/light-chain deposition. (a) Gamma HCD: ~25% have autoimmune disease (RA most common; autoimmune hemolytic anemia, Sjogren, SLE, vasculitis, ITP, myasthenia). TB/cholecystitis history; chronic hypergammaglobulinemia. (b) Alpha HCD: most common type; linked to intestinal parasites/bacteria/viruses in endemic regions; 14q32/9p11 translocations. (c) Mu HCD: almost all have prior CLL/NHL. (2) Mechanism: plasma-cell mutation → defective Ig synthesis → free non-functional HC in serum/urine.

Treatment

Drug, supportive therapy

Preventive Measures

Malignant/progressive disease; anti-infection + supportive/symptomatic therapy; dialysis/renal transplant for end-stage renal failure.

Department to Visit

It is recommended to visit the Hematology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.