congenital diarrhea 7 with exudative enteropathy

Congenital diarrhea 7 with exudative enteropathy is a rare, inherited disorder affecting the intestinal system, characterized by chronic, watery diarrhea and protein loss from the gut. It is caused by mutations in the DGAT1 gene, which plays a key role in lipid metabolism and intestinal function. Most affected individuals present in infancy with severe diarrhea, failure to thrive, and complications related to low protein levels. This condition is very rare, affecting fewer than 1 in a million people, and both males and females can be affected.

The clinical presentation includes intractable, non-infectious watery diarrhea that is evident from early infancy. Patients typically experience protein-losing enteropathy, which leads to low levels of blood proteins, as well as associated metabolic disturbances such as hypercholesterolemia and hyperlipidemia. Abdominal colic and villous atrophy in the intestine further contribute to impaired nutrient absorption, often resulting in failure to thrive, recurrent infections, and edema. Not all individuals experience every feature, and severity varies considerably.

This condition is caused by mutations in the DGAT1 gene, which is crucial for the proper metabolism of lipids in the intestine. Disruption of the function of the DGAT1 enzyme interferes with normal nutrient absorption and protein balance, leading to the characteristic symptoms. Inherited in an autosomal recessive pattern, an affected individual must inherit two copies of the mutated gene, one from each parent. This condition is more common when parents share a common ancestor, as both are more likely to carry the same rare genetic variant, with a recurrence risk of 25% for each pregnancy.

Currently, management focuses on supportive care and symptom management since there are no FDA-approved treatments specifically linked to this condition. Treatment is tailored to the individual and typically involves a multidisciplinary team to address nutritional support, fluid and electrolyte balance, and complications such as recurrent infections and failure to thrive. Genetic counseling is recommended to help families understand the condition and discuss options for family planning. Patients should discuss treatment options with their healthcare team to determine which interventions might be best suited for their situation.

Outcomes for congenital diarrhea 7 with exudative enteropathy vary depending on the severity of symptoms, age at diagnosis, and access to specialized care. With current standards of care, many individuals experience improvements in quality of life despite ongoing challenges such as nutritional deficiencies and recurrent infections. Because severity and symptoms vary widely between individuals, the long‐term course can range from stabilization to intermittent complications. Outcomes described in medical literature continue to evolve as standards of care improve, and families are encouraged to seek genetic counseling and connect with expert centers for ongoing support.