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Mu Heavy Chain Disease Clinical Presentation

  • Author: Ajeet Gajra, MD; Chief Editor: Emmanuel C Besa, MD  more...
Updated: Sep 10, 2015



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.[6]

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.[7]

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.


The cause of mu-HCD is not known. No viruses, chemical, physical, or genetic factors have been identified.[8]

Contributor Information and Disclosures

Ajeet Gajra, MD Associate Professor of Medicine, Director of Hematology/Oncology Fellowship Program, State University of New York Upstate Medical University; Consulting Staff, Department of Internal Medicine, Division of Hematology and Oncology, Veterans Affairs Medical Center

Ajeet Gajra, MD is a member of the following medical societies: American Association for Cancer Research, American Medical Association, American Society of Hematology

Disclosure: Nothing to disclose.


Sara J Grethlein, MD Associate Dean for Undergraduate Medical Education, Indiana University School of Medicine

Sara J Grethlein, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, American Society of Hematology, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

Neerja Vajpayee, MD Associate Professor, Department of Pathology, State University of New York Upstate Medical University

Neerja Vajpayee, MD is a member of the following medical societies: American Society of Hematology, College of American Pathologists, United States and Canadian Academy of Pathology

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Paul Schick, MD Emeritus Professor, Department of Internal Medicine, Jefferson Medical College of Thomas Jefferson University; Research Professor, Department of Internal Medicine, Drexel University College of Medicine; Adjunct Professor of Medicine, Lankenau Hospital

Paul Schick, MD is a member of the following medical societies: American College of Physicians, American Society of Hematology

Disclosure: Nothing to disclose.

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