Most individuals with IPEX have had at least some degree of nutritional compromise due to chronic diarrhea and malabsorption, often leading to significant weight loss and poor growth, so nutritional support is very important. Some individuals can improve by receiving supplemental oral feeding using elemental formulas made up of basic nutrients. Often, these need to be given by nasogastric tube (NG-tube) or gastrostomy tube (G-tube) so they can be delivered at a slow, steady rate throughout the day.
In some individuals, even this slow, gentle approach of delivering nutrients to the bowel leads to worsening of the diarrhea. In these individuals, a central venous catheter is placed, and nutrition is delivered intravenously in the form of total parenteral nutrition (TPN). Little or no food is given into the bowel. This allows the individual to receive much-needed nutrition without making the diarrhea worse.
The severity of skin disease in IPEX varies widely, with some individuals having only mild eczema and other individuals having severe psoriasis-like rashes that are associated with skin fissuring and ulceration. Aggressive treatment of the skin using a combination of moisturizers, steroid ointments, ointments containing other immunosuppressants, like tacrolimus, and wet wraps can help to control skin disease. Often, referral to dermatology and, in severe cases, consultation with wound care specialists is very helpful.
All individuals with IPEX need to be screened for diabetes and thyroid disease. Individuals diagnosed with diabetes or hypothyroidism should be evaluated by an endocrinologist and treated with appropriate insulin and/or thyroid hormone. Individuals with autoimmune diseases causing anemia or low platelet counts may require transfusions with red blood cells or platelets. Supportive treatments to counteract the effects of autoimmunity on other organs should also be provided as needed.