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

Updated: Aug 06, 2019
  • Author: Taylor Banks, MD; Chief Editor: Harumi Jyonouchi, MD  more...
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Treatment

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 [28] . 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. Some more limited data have suggested a higher rate of graft failure, particularly when compared to other immune disorders, but more study is required. Early identification of IPEX and treatment via HSCT hold the potential to reduce the effects of chronic immunosuppressive regimens and disease-related organ damage. [29, 30, 31, 32]

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 iodine131 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. [33, 34] More research is needed to explore this and related gene therapy approaches.

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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: [35]

  • 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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Prevention

Genetic testing and prenatal diagnosis may reduce the incidence of this condition. The possibility of prenatal diagnosis has been suggested by recent research. [36]

Early hematopoietic stem cell transplantation (HSCT) may prevent end-organ damage associated with this disease.

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