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Why do patients with autoimmune enteropathies often face growth failure challenges?
Autoimmune enteropathy is a rare autoimmune disease characterized by weight loss, persistent severe diarrhea, and autoimmune damage to the intestinal mucosa due to intestinal malabsorption. Although the disease usually occurs in infants and young children, similar cases have been reported in adults in recent years. According to the literature, the first description of autoimmune enteropathy dates back to 1982. The pathogenesis of this disease is not yet fully understood, but studies have shown that dysfunction or deficiency of CD25+CD4+ regulatory T cells may play an important role in it.
Autoimmune enteropathy is often accompanied by a variety of diseases, the most prominent of which are autoimmune polyendocrine syndrome and immune dysregulation polyendocrine enteropathy X-linked syndrome.
The patient's clinical symptoms, laboratory test results and histological characteristics of small intestinal biopsy can be used to confirm the diagnosis of autoimmune enteropathy. Unlike traditional dietary adjustments, these patients often require the use of immunosuppressants or even total intravenous nutrition.
Symptoms and manifestations
Autoimmune enteropathy usually develops symptoms within the first six months of life and is usually observed two to four weeks after birth. It is characterized by persistent, high-volume diarrhea, and patients often suffer from electrolyte imbalances, malabsorption, and growth failure. In more than 60% of cases, the mean stool volume was reported to be very high at the time of diagnosis.
In addition, these patients may present with multisystem manifestations involving the kidneys, endocrine system, hematology, musculoskeletal system, lungs, and liver, with known diseases including tubular and glomerular syndromes, interstitial fibrosis, Caused by hypothyroidism, hepatitis and rheumatoid arthritis.
Autoimmune enteropathy is commonly associated with other systemic autoimmune diseases, with up to 83% of patients having one or more autoimmune diseases.
Causes
Although autoimmune enteropathy varies in the degree of primary intestinal involvement, it often occurs simultaneously with systemic syndromes. The two main autoimmune syndromes are autoimmune polyendocrine syndrome type 1 (APS-1) and immune dysregulation polyendocrine enteropathy X-linked syndrome (IPEX). Both conditions are rare and most occur more frequently in certain ethnic groups, such as Finns and Iranian Jews.
IPEX syndrome primarily affects males and is caused by loss-of-function mutations in the FOXP3 gene. APS-1 is caused by mutations in the AIRE gene, and both have different clinical manifestations.
Diagnosis
The diagnosis of autoimmune enteropathy relies on factors such as histological changes in small intestinal biopsy, serological tests, and clinical symptoms. Early diagnostic criteria included refractory diarrhea and villous atrophy of the small intestine. As our understanding of the disease deepened, the diagnostic criteria for adults were expanded.
TreatmentWhen treating autoimmune enteropathy, many patients will face nutritional deficiencies. In addition to oral nutritional supplements, intravenous nutrition is often required. In treatment, steroids such as prednisone and budesonide are usually the first choice, and for patients who do not respond to steroids, immunosuppressants should be effective.
Studies have shown that mesenchymal stem cell therapy has shown potential for curing autoimmune intestinal diseases.
Prospects
If not properly treated, autoimmune enteropathy can have a mortality rate of up to 30%. Long-term patient outcomes are influenced by multiple factors, including the need for intravenous nutrition, age at disease presentation, and severity of symptoms. There is currently no single treatment that is successful in all cases, and relapses are common.
Faced with such challenging autoimmune enteropathy patients, we can think about how to further improve current treatments to improve their quality of life and growth and development?
