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Immunodysregulation Polyendocrinopathy Enteropathy X-Linked Syndrome (IPEX) Treatment & Management

  • Author: Satyen M Gada, MD; Chief Editor: Harumi Jyonouchi, MD  more...
 
Updated: Mar 25, 2014
 

Medical Care

Hematopoietic stem cell transplantation (HSCT) and chronic immunosuppression represent the two main therapeutic interventions for immune dysfunction, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. HSCT is the only curative treatment for IPEX. Although conventional myeloablative conditioning has been associated with significant treatment-related mortality, emerging evidence suggests that reduced intensity conditioning holds promise as a treatment modality. Furthermore, early identification of IPEX and treatment via HSCT reduces the effects of chronic immunosuppressive regimens and disease-related organ damage.[24, 25, 26]

Supportive therapies may be required for other disorders associated with IPEX syndrome, including the following:

  • Insulin-dependent diabetes mellitus: Insulin replacement is indicated.
  • Autoimmune thyroid disease: Hypothyroidism is treated with levothyroxine. Hyperthyroidism is treated with anti-thyroid medications, radioactive iodine 131 I, or thyroidectomy.
  • Enteropathy: Immunosuppressive agents such as oral corticosteroids, cyclosporin A, tacrolimus, sirolimus, rituximab, and infliximab have been successful to control symptoms but fail to provide long-term remission. [6] Nutritional support is indicated.
  • Dermatitis: Emollients, topical steroids, and other anti-inflammatory agents are indicated.
  • Autoimmune cytopenias: Corticosteroids, granulocyte-colony stimulating factor (G-CSF, filgrastim) for neutropenia, and replacement blood products
  • Infections: Antibiotics are indicated.

A recent study by Passerini et al (2013) highlights the possibility of using adoptive cell therapy with genetically engineered regulatory T cells as a novel therapy for IPEX syndrome.[27] More research is needed to explore this and related gene therapy approaches.

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Surgical Care

Surgical care is not part of the primary treatment of IPEX syndrome.

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Consultations

Evaluation of the immune system should be performed through consultation with an immunologist.

Patients with IPEX syndrome should be referred to an endocrinologist for management of diabetes and thyroid disease.

Consultation with a gastroenterologist is indicated for diagnosis and management of enteropathy.

Patients with autoimmune cytopenias may benefit from consultation with a hematologist to assist with management.

Proper diagnosis and management of the skin manifestations associated with IPEX syndrome may require consultation with a dermatologist.

Nutrition consultation may be beneficial in patients with IPEX syndrome.

Patients with evidence of renal disease should be referred to a nephrologist for diagnosis and management.

Patients with recurrent and severe infections may benefit from consultation with an infectious disease specialist.

A transplant team should be consulted if hematopoietic stem cell transplantation (HSCT) is considered.

Patients and families with IPEX syndrome should be referred to a geneticist for evaluation and counseling.

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Diet

Dietary management of IPEX syndrome varies according to the degree of enteropathy and response to treatment and may include the following:[28]

  • Regular diet
  • Low carbohydrate diet
  • Elemental formula
  • Total parenteral nutrition
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Activity

Patients with thrombocytopenia should take precautions to prevent bleeding. Patients with severe anemia should avoid strenuous activity. Patients with diabetes should monitor their glucose while exercising to avoid hypoglycemia. Patients with uncontrolled hypothyroidism may have difficulty maintaining concentration and slowed reaction times. Activities with a high risk of injury should be avoided.

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Contributor Information and Disclosures
Author

Satyen M Gada, MD Assistant Professor, Department of Pediatrics and Medicine, Uniformed Services University of the Health Sciences; Staff, Department of Allergy and Immunology, Walter Reed Army Medical Center, Bethesda, MD

Satyen M Gada, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology

Disclosure: Nothing to disclose.

Coauthor(s)

Cecilia P Mikita, MD, MPH Associate Program Director, Allergy-Immunology Fellowship, Associate Professor of Pediatrics and Medicine, Uniformed Services University of the Health Sciences; Staff Allergist/Immunologist, Walter Reed National Military Medical Center

Cecilia P Mikita, MD, MPH is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology

Disclosure: Nothing to disclose.

Taylor Banks, MD Chief, Allergy/Immunology Clinic, Walter Reed National Military Medical Center; Assistant Professor of Pediatrics, Assistant Professor of Medicine, Uniformed Services University of the Health Sciences; Associate Program Director, NCC Allergy-Immunology Fellowship Program and NCC Transitional Year Internship Program

Taylor Banks, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD Faculty, Division of Allergy/Immunology and Infectious Diseases, Department of Pediatrics, Saint Peter's University Hospital

Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Pediatric Research, Society for Mucosal Immunology

Disclosure: Nothing to disclose.

Additional Contributors

C Lucy Park, MD Chief, Division of Allergy, Immunology, and Pulmonology, Associate Professor, Department of Pediatrics, University of Illinois at Chicago College of Medicine

C Lucy Park, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, Chicago Medical Society, American Medical Association, Clinical Immunology Society, Illinois State Medical Society

Disclosure: Nothing to disclose.

References
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