Mu Heavy Chain Disease Clinical Presentation
- Author: Ajeet Gajra, MD; Chief Editor: Emmanuel C Besa, MD more...
Initial reported cases of mu heavy chain disease (mu-HCD) had a clinical picture consistent with chronic lymphocytic leukemia (CLL); however, with better diagnostic procedures and a high index of suspicion, the defining protein abnormality has been noted in a broader range of clinical settings. Currently, only one third of patients with mu-HCD appear to have CLL. In 150 consecutive patients with CLL, thorough investigation of serum proteins failed to identify a single instance of mu-HCD, which suggests an incidence of less than 1% in this population.
Other clinical presentations vary, one of which may be essential monoclonal gammopathy with no clinical symptoms of B-cell lymphoma (20%). In 10% of cases, an intact IgM protein was simultaneously detected in the serum. Another 10% of cases were associated with clinical multiple myeloma or plasmacytoma. Mu-HCD is also reported to be associated with systemic amyloidosis in rare instances.
Patients usually present with evidence of systemic disease, such as weight loss, fever, anemia, and recurrent infection. Splenomegaly is detected in almost all cases, hepatomegaly is present in approximately 75% of cases, and peripheral lymphadenopathy is present in approximately 40% of patients.
Bone involvement with osteolytic lesions and pathologic fractures has been noted in approximately 40% of patients. These patients usually present with bone pain, especially in the back.
Renal complications seem infrequent, with cast nephropathy and renal failure reported in a single case. Two patients, including the first reported case, had amyloidosis with renal impairment.
Some patients present with other pathologic conditions such as systemic lupus erythematosus, hepatic cirrhosis, and myelodysplastic syndrome.
See the list below:
Physical examination findings are variable and depend on patient presentation.
Pallor may be noted if significant anemia is present, which is usually observed only in advanced disease.
Lymphadenopathy is noted in 40% of patients.
Splenomegaly is almost universal, and hepatomegaly is noted in most cases.
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