congenital diarrhea 5 with tufting enteropathy

Congenital diarrhea 5 with tufting enteropathy is a severe gastrointestinal condition that presents in early infancy with intractable diarrhea and features that eventually lead to irreversible intestinal failure. The condition is caused by pathogenic variants in the EPCAM gene, which plays a critical role in maintaining the integrity and function of the intestinal lining. It is inherited in an autosomal recessive pattern, meaning an affected child has received one abnormal copy of EPCAM from each parent. Although precise prevalence data are not available, the condition remains exceedingly rare.

The clinical presentation is characterized by constant, severe diarrhea that begins in infancy. Histologic findings typically reveal villous atrophy and crypt hyperplasia, which are consistently observed in affected individuals. Other features that may be present include failure to thrive, being small for gestational age, and, in some cases, arthritis. Not all individuals experience every feature, and severity varies considerably.

Congenital diarrhea 5 with tufting enteropathy is attributed to mutations in the EPCAM gene. EPCAM is essential for proper cell adhesion and the maintenance of the intestinal epithelial barrier, and disruptions in its function can compromise nutrient absorption and intestinal integrity. The condition is inherited in an autosomal recessive pattern, meaning that both parents contribute an abnormal copy of the gene. Genetic counseling is recommended to help families understand the recurrence risk, which is typically 25% for each pregnancy when both parents are carriers.

Currently, management focuses on supportive care and symptom management, with treatment tailored to the individual needs of each patient. Interventions typically involve a multidisciplinary team approach to address nutritional deficits, fluid and electrolyte imbalances, and growth concerns. Genetic counseling is recommended to provide guidance on inheritance and to support family planning discussions. Patients should discuss treatment options with their healthcare team to determine which supportive strategies may be most beneficial.

The outlook for individuals with congenital diarrhea 5 with tufting enteropathy is variable, with outcomes influenced by the severity of symptoms, age at diagnosis, and access to specialized care. While intestinal failure remains a serious challenge, current standards of care have improved the quality of life for many affected individuals. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists experienced in managing this condition as well as with genetic counselors for ongoing guidance.