Immunodysregulation Polyendocrinopathy Enteropathy X-Linked Syndrome (IPEX) Follow-up
- Author: Satyen M Gada, MD; Chief Editor: Harumi Jyonouchi, MD more...
Further Outpatient Care
Close medical follow-up and specialty care is required to monitor and manage the infections and autoimmune complications of IPEX syndrome.
Further Inpatient Care
Patients who have immune dysfunction, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome and severe infections may require intravenous antimicrobial treatment.
Some immunosuppressive drugs may be only administered in an inpatient setting.
Diabetic patients presenting in diabetic ketoacidosis (DKA) may require inpatient monitoring of glucose in addition to fluid and electrolyte resuscitation.
Severe cytopenias may require treatment with intravenous steroids or blood products.
Severe malnutrition from enteropathy may require total parenteral nutrition.
Hospitalization for conditioning prior to hematopoietic stem cell transplantation (HSCT) may be required.
Patients with IPEX syndrome may require transfer to a center that provides multiple subspecialty care.
Care may be obtained at a center that specializes in the diagnosis and treatment of IPEX syndrome.
Transfer to a center that performs hematopoietic stem cell transplantation (HSCT) may be indicated.
Genetic testing and prenatal diagnosis may reduce the incidence of this condition. The possibility of prenatal diagnosis has been suggested by recent research.
Early hematopoietic stem cell transplantation (HSCT) may prevent end-organ damage associated with this disease.
Complications include the following:
- Complications of the associated endocrine abnormalities
- Complications of the associated hematologic abnormalities
- Complications of hematopoietic stem cell transplantation (HSCT)
If untreated, death from complications of IPEX syndrome usually occurs within the first 2 years of life. Death is often attributable to metabolic abnormalities, malnutrition secondary to malabsorption, or severe sepsis.
The introduction of immunosuppressive treatments has improved survival in patients with IPEX syndrome. Successful hematopoietic stem cell transplantation (HSCT) with immune reconstitution has been reported and offers hope of a permanent cure.
Educate patients and families about IPEX syndrome and associated infectious and autoimmune complications. Patients should be able to recognize signs of infection, diabetes, thyroid disease, enteropathy, anemia, thrombocytopenia, or neutropenia and seek medical care.
Female carriers should receive appropriate genetic counseling.
Patients with IPEX syndrome should receive nutritional counseling.
Patients with diabetes should receive appropriate diabetic instruction.
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