Systemic Mastocytosis Treatment & Management

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

Medical Care

Therapy for systemic mastocytosis (systemic mast cell disease) is primarily symptomatic; no therapy is curative. Treatment modalities include the management of (1) anaphylaxis and related symptoms, (2) pruritus and flushing, and (3) intestinal malabsorption. The principles of treatment include control of symptoms with measures to decrease mast cell activation.[24]

Treatment of Anaphylaxis and Other Symptoms

Epinephrine is used in acute anaphylaxis. H1 and H2 receptor blockers are used to control anaphylactic symptoms. Acute anaphylaxis can be treated with 0.3 mL of a 1:1000 dilution of epinephrine. In children, the dose is 0.01 mL/kg (up to 0.3 mL) administered every 10-15 minutes as needed.

Corticosteroids have been used to control malabsorption, ascites, and bone pain and to prevent anaphylaxis. Oral prednisone (40-60 mg/d) for 10-20 days has been used in the treatment of malabsorption. Cromolyn is also helpful for decreasing bone pain and headaches and for improving skin symptoms. Patients with osteopenia that does not respond to therapy may receive a trial of interferon alfa-2b.

Classic H1 antagonists, such as diphenhydramine and hydroxyzine, have been used to treat pruritus and flushing. Mast cell stabilizers, such as ketotifen, have also been used to treat pruritus and whealing. Aspirin can be used in conditions in which H1 and H2 receptor blockers do not prevent vascular collapse. Leukotriene antagonists, such as zafirlukast and montelukast, have also been used in the treatment of systemic mastocytosis (systemic mast cell disease).

H2 receptor blockers have been used to treat gastric hypersecretion and peptic ulcer disease associated with systemic mastocytosis (systemic mast cell disease). Proton pump inhibitors are also useful in the treatment of systemic mast cell disease.

Psoralen ultraviolet A therapy may provide transient relief of pruritus and may cause fading of skin lesions in some patients.

Anticholinergics have been used in the treatment of diarrhea. Disodium cromolyn has been used in the treatment of abdominal cramping and diarrhea.

Osteoporotic fractures are common in patients with mastocytosis. Unlike the general population, males are heavily affected. The risk of osteoporotic fractures increases with age, as in the general population, but starts at younger ages. Monitoring for osteoporosis should be applied to mastocytosis patients; the role of antiresorptive therapy is untested.[25]

Treatment of Primary Disease

Various chemotherapy regimens have been used in the treatment of category II-IV systemic mastocytosis (systemic mast cell disease). Chemotherapy has not been particularly successful in the management of this disease.[26]

Interferon-alfa benefits some patients, especially those with disease in the aggressive systemic mastocytosis category. In a retrospective analysis, 57% had treatment responses, but only 21% had a major response. Other studies have been published that show no response to interferon-alfa. It is perhaps not indicated in patients with indolent disease.

2-Chlorodeoxyadenosine (Cladribine) was reported to have yielded a major response in one patient. Responses may be transient. 2-Chlorodeoxyadenosine has myelosuppressive properties and, at this time, is not recommended for patients with indolent disease.[27]

There have been anecdotal reports of thalidomide use in advanced systemic mastocytosis (systemic mast cell disease).

Allogenic bone marrow transplantation is considered experimental and is being pursued in clinical trials at the US National Institutes of Health (NIH).

The tyrosine kinase inhibitor imatinib mesylate (Gleevec) may be useful in those types of systemic mastocytosis (systemic mast cell disease) that do not have mutations of the codon 816 on the c-kit gene and carry the wild-type kit. Imatinib mesylate may also be useful in a subtype of systemic mastocytosis that carries the FIP1L1-PDGFRA rearrangement.[28] Knowledge of the types of systemic mastocytosis that respond to tyrosine kinase inhibition continues to evolve.

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Surgical Care

Some surgical procedures, such as laparoscopy and bone marrow biopsy (and sometimes endoscopy), can precipitate anaphylaxis, and patients undergoing these procedures should be closely monitored.[29]

Administration of beta-blockers is contraindicated in patients with systemic mastocytosis (systemic mast cell disease) who are undergoing surgery, because these agents may interfere with endogenous epinephrine and may precipitate anaphylaxis.

Avoid alpha-blockers and cholinergic antagonists.

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Consultations

Patients thought to have severe systemic mastocytosis (systemic mast cell disease) that requires chemotherapy may need consultation with hematologists, dermatologists, and immunologists. A bone marrow biopsy is necessary in such cases, and supervision by a hematology/oncology specialist may be needed.

Patients with severe GI symptoms may need endoscopic procedures and biopsies to exclude other causes of malabsorption. Consultation with a gastroenterologist is helpful in such situations.

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Activity

Insect stings can precipitate anaphylaxis; therefore, patients with systemic mastocytosis (systemic mast cell disease) should exercise great care in avoiding stings when engaging in outdoor activities.

Patients should carry epinephrine-filled syringes at all times and should be taught to administer epinephrine in cases of emergency.

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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.

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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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