atresia of small intestine

Atresia of the small intestine is a birth defect that affects the gastrointestinal system. It occurs when a segment of the intestine does not develop properly, often due to a loss of blood supply before birth. This condition is marked by the abnormal, spiral shape of the bowel, which has been compared to an "apple peel." Newborns, typically preterm infants with low birth weights, may experience feeding difficulties, vomiting during initial feeds, and a gradually swollen abdomen. Prevalence data is not available. The severity and specific features can vary considerably from person to person, and outcomes depend on the extent of bowel involvement and the care received.

Newborns with atresia of small intestine typically present with immediate feeding problems such as vomiting and an inability to tolerate initial feeds, which may later worsen and be accompanied by progressive abdominal distension. The condition is also marked by failure to thrive and, in many cases, a significantly shortened small bowel, which predisposes affected children to short bowel syndrome. Not all individuals experience all features, and severity varies considerably.

Atresia of small intestine is most often attributed to an intrauterine intestinal vascular accident, which leads to an absence of normal mesenteric development and subsequent abnormal bowel formation. Although the precise genetic basis is under investigation, the condition is described as inherited in an autosomal recessive pattern. This means that both parents are likely to carry a single copy of a genetic change, with affected children needing to inherit two copies of the variant. Families are encouraged to seek genetic counseling to better understand the implications for future pregnancies.

Currently, management of atresia of small intestine focuses on supportive care and symptom management. Because there are no specifically approved treatments for this condition, care is tailored to each individual and typically involves a multidisciplinary team, including pediatric surgeons and nutritional specialists, to address feeding difficulties and support growth. Surgical intervention to repair the atresia, along with careful nutritional and medical management to mitigate the risks associated with short bowel syndrome, is the cornerstone of treatment. Patients should discuss treatment options with their healthcare team and consider seeking genetic counseling as part of family planning.

The outlook for individuals with atresia of small intestine varies widely and depends on factors such as the length of functioning bowel, the severity of complications like short bowel syndrome, and the timing of surgical intervention. With current standards of care, many affected individuals benefit from advances in surgical techniques and supportive care, leading to improved quality of life and long-term outcomes. Outcomes described in medical literature continue to evolve as standards of care improve, and regular follow-up with specialists is essential. Families often find it helpful to connect with pediatric gastroenterologists and genetic counselors to understand the potential long-term needs and management strategies.

Clinical trials are underway exploring new treatment approaches for atresia of small intestine. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.