Systemic Mastocytosis Clinical Presentation

  • Author: Koyamangalath Krishnan, MD, FRCP, FACP; Chief Editor: Emmanuel C Besa, MD   more...
 
Updated: Feb 15, 2012
 

History

Patients with systemic mastocytosis (systemic mast cell disease) can have symptoms related to involvement of the hematopoietic system, the GI system, the skin, and the immune system. Patients can also have symptoms related to additional coexistent hematologic manifestations.

Systemic mastocytosis (systemic mast cell disease) is known to be associated with a number of other hematologic diseases, including hypereosinophilic syndrome, Castleman disease, monoclonal gammopathy, and hairy cell leukemia. Non-Hodgkin lymphoma, polycythemia vera, and primary thrombocythemia are also known to occur in conjunction with systemic mastocytosis (systemic mast cell disease).

The incidence of various symptoms reported in one of the largest case series of systemic mastocytosis is as follows: urticaria pigmentosa (41%), cutaneous symptoms (53%), constitutional complaints (42%), mediator-related symptoms (47%), idiopathic and/or recurrent anaphylactoid reactions (17%), gastrointestinal symptoms (65%), and musculoskeletal symptoms (31%).[13]

  • Anemia and coagulopathy may be observed.
  • Many GI symptoms are observed in patients with systemic mastocytosis (systemic mast cell disease). Abdominal pain is the most common GI symptom, followed, by diarrhea, nausea, and vomiting. Symptoms and signs of gastroesophageal reflux disease (GERD) are noted in some patients. GI symptoms seem to be as common as pruritus in patients with systemic mastocytosis (systemic mast cell disease).
  • Patients may present with symptoms of pruritus and flushing if their mastocytosis (mast cell disease) is associated with cutaneous abnormalities.
  • While the risk of recurrent anaphylactoid reaction is well known, it appears that the association with Hymenoptera (bee) stings is stronger than the association with other food and drug-induced systemic reactions.[15]
  • Caution during anesthesia in the endoscopic and surgical suites is advised.
  • Rare anaphylactoid reactions to intravenous contrast have been reported.[16]
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Physical

  • Signs of anemia, such as pallor, can be noted in some patients with systemic mastocytosis (systemic mast cell disease).
  • Hepatomegaly (27%), splenomegaly (37%), and lymphadenopathy (21%) can be found in adult patients with systemic mastocytosis.[13]
  • Some studies show that GI symptoms are precipitated by agents such as penicillin, narcotics, cocaine, aspirin,[17] nonsteroidal anti-inflammatory drugs (NSAIDs), and dipyridamole (Persantine). These drugs can provoke anaphylaxis, vascular collapse, or syncope.
  • Thrombocytopenia caused by splenomegaly, hypersplenism, and a rise in portal pressure; heparin release from mucosal mast cells; and vitamin K malabsorption resulting from mast cell involvement can all contribute to GI bleeding in patients with systemic mastocytosis (systemic mast cell disease).
  • Patients may have signs of urticaria (41%) if the mastocytosis (mast cell disease) is associated with cutaneous involvement. In these situations, flushing can be noted upon physical examination.
  • Osteolysis and pathological fractures are rarely noted (7%).
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Causes

Studies have shown that mutations of the c-kit proto-oncogene may cause some forms of mastocytosis (mast cell disease).[18, 19, 12] Mutations of c-kit in mast cell tumor lines and the ability of c-kit to cause mast cell proliferation and transformation suggest that these mutations are necessary in most forms of mastocytosis. Several types of mutations in c-kit have been demonstrated to cause mastocytosis. One of the common mutations found in systemic mastocytosis (systemic mast cell disease) is a D816V KIT receptor mutation. Most, if not all, adult patients with systemic mastocytosis carry this mutation.[20]

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Contributor Information and Disclosures
Author

Koyamangalath Krishnan, MD, FRCP, FACP  Paul Dishner Endowed Chair of Excellence in Medicine, Professor of Medicine and Chief of Hematology-Oncology, James H Quillen College of Medicine at East Tennessee State University

Koyamangalath Krishnan, MD, FRCP, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, American Society of Hematology, and Royal College of Physicians

Disclosure: Nothing to disclose.

Coauthor(s)

Devapiran Jaishankar, MBBS  Associate Professor, Division of Oncology, East Tennessee State University, James H Quillen College of Medicine

Devapiran Jaishankar, MBBS is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, American Society of Clinical Oncology, and American Society of Hematology

Disclosure: Nothing to disclose.

Specialty Editor Board

Thomas H Davis, MD, FACP  Associate Professor, Fellowship Program Director, Department of Internal Medicine, Section of Hematology/Oncology, Dartmouth Medical School

Thomas H Davis, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American Association for Cancer Education, American College of Physicians, New Hampshire Medical Society, Phi Beta Kappa, and Society of University Urologists

Disclosure: Nothing to disclose.

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

Disclosure: Medscape Salary Employment

Ronald A Sacher, MB, BCh, MD, FRCPC  Professor, Internal Medicine and Pathology, Director, Hoxworth Blood Center, University of Cincinnati Academic Health Center

Ronald A Sacher, MB, BCh, MD, FRCPC is a member of the following medical societies: American Association for the Advancement of Science, American Association of Blood Banks, American Clinical and Climatological Association, American Society for Clinical Pathology, American Society of Hematology, College of American Pathologists, International Society of Blood Transfusion, International Society on Thrombosis and Haemostasis, and Royal College of Physicians and Surgeons of Canada

Disclosure: Glaxo Smith Kline Honoraria Speaking and teaching; Talecris Honoraria Board membership

Rajalaxmi McKenna, MD, FACP  Southwest Medical Consultants, SC, Department of Medicine, Good Samaritan Hospital, Advocate Health Systems

Rajalaxmi McKenna, MD, FACP is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology, and International Society on Thrombosis and Haemostasis

Disclosure: Nothing to disclose.

Chief Editor

Emmanuel C Besa, MD  Professor, Department of Medicine, Division of Hematologic Malignancies, 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 College of Clinical Pharmacology, American Federation for Medical Research, American Society of Clinical Oncology, American Society of Hematology, and New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous authors Stephen J Smith, MD, Harsha G Vardhana, MD, and Guha Krishnaswamy, MD, to the development and writing of this article.

References

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Bone marrow aspirate, Romanowsky stain, high-definition magnification. Diagnosis is mastocytosis, and morphology is abnormal mast cells. This is a bone marrow smear from a patient with systemic mastocytosis. Several mast cells are present in this photograph. These mast cells are larger than normal mast cells and have more irregularly shaped nuclear outlines and less densely packed mast cell granules. Courtesy of the American Society of Hematology Slide Bank. Used with permission.
Bone marrow aspirate, toluidine stain, low magnification. Diagnosis is mastocytosis, and morphology is abnormal mast cells. This is a toluidine blue stain of a bone marrow smear from a patient with marrow involvement by systemic mastocytosis. Five mast cells are present in this field. The mast cell granules are metachromatic with the toluidine blue reaction. Courtesy of the American Society of Hematology Slide Bank. Used with permission.
Bone marrow biopsy, toluidine stain, low magnification. Diagnosis is mastocytosis, and morphology is abnormal mast cell infiltrate. This is a toluidine blue stain of a bone marrow biopsy from a patient with systemic mastocytosis. The mast cells are metachromatic with toluidine blue and contain numerous purple granules. Courtesy of the American Society of Hematology Slide Bank. Used with permission.
Lymph node biopsy. Diagnosis is mastocytosis, morphology is mast cell infiltrate, and the organ is the lymph nodes. This is a lymph node biopsy from a person with systemic mastocytosis. The mast cells have a characteristic perifollicular distribution. Courtesy of the American Society of Hematology Slide Bank. Used with permission.
Lymph node biopsy, chloroacetate esterase stain. Diagnosis is mastocytosis, and morphology is mast cell infiltrate. This is a portion of a lymph node biopsy from a patient with systemic mastocytosis. The mast cells are chloroacetate esterase positive, which is characterized by an orange granular appearance. Courtesy of the American Society of Hematology Slide Bank. Used with permission.
 
 
 
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