Gamma Heavy Chain Disease Clinical Presentation
- Author: Guy B Faguet, MD; Chief Editor: Emmanuel C Besa, MD more...
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The causes of or risk factors for γ-HCD are unknown.
It has been suggested that approximately 25% of patients with γ-heavy chain disease (HCD) present with localized disease, whereas two thirds exhibit disseminated disease, including medullary and extramedullary involvement, with the remainder showing gammopathy only. Patients with disseminated γ-HCD present with a lymphomalike illness that includes lymphadenopathy, splenomegaly, and hepatomegaly, and often involves progressive weakness, fatigue, and intermittent fevers. Hepatosplenomegaly is present in 60% of patients.
Lymphadenopathy is present at the onset in approximately two thirds of patients with disseminated disease. It commonly involves cervical, axillary, thoracic, and abdominal nodes. It also involves the Waldeyer ring and mesenteric lymph nodes, often leading to an edematous tongue and soft palate. Lymphadenopathy becomes more pronounced as the disease progresses. Other features may include parotid gland tenderness, soreness of the tongue, autoimmune hemolytic anemia, and purpura. Skeletal involvement and hypercalcemia are rare but renal, adrenal, and CNS lymphoid infiltration have been reported postmortem.
The course of γ-HCD varies from an asymptomatic presence of a nonprogressive monoclonal heavy chain in serum or urine that occasionally disappears, to a rapidly progressive illness. A small percentage of γ-HCD exhibits a phase of monoclonal gammopathy of undetermined significance (MGUS). Most patients with progressive disease eventually succumb to bacterial infections. A series of 23 patients reported a median survival of 7.4 years.
Symptoms of γ-HCD are variable but include the following:
Fevers are frequently recurrent and resemble that of lymphoproliferative disorders.
Malaise may be secondary to the disease state itself or to anemia. Mild anemia is universal in patients with disseminated γ-HCD.
Dysphagia is usually caused by edema of the soft palate, secondary to progressive lymphadenopathy of the Waldeyer ring. This edema may also lead to tongue soreness.
Recurrent upper respiratory tract infections develop because of impaired humoral and cellular immunity, although other factors also can contribute, including lymphoid hyperplasia of the oropharynx that can reduce clearance of airway pathogens.
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