Ileocolic intussusception in adult with cystic fibrosis

A 30-year-old man with cystic fibrosis presented with fever, pain in the right iliac fossa and increased acute phase reactants.

Abdominal CT showed an intestinal ileocolic intussusception involving approximately 8 cm of the terminal ileum with thickening and oedema of the ascending colon, small collection and inflammatory changes in the adjacent pericolonic fat. Lymph nodes with the largest diameter around 1 cm.

Ileocolic intussusception was confirmed and the patient underwent ileocectomy with ileo-ascending colon anastomosis by laparotomy; 8 cm of ileum and 7.7 cm of colon were resected. Histology showed evidence of bowel infarction.

Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in white population that affects the exocrine function of the lungs, liver, pancreas and small bowel.
It occurs due to a defect in the transmembrane conductance regulator receptor (CFTR) on chromosome 7 resulting in abnormally thickened and viscous secretions.
One of the most-affected organs in CF is the lung. Mucous plugging, bronchiectasis, and recurrent infection are well-known pulmonary manifestations and respiratory failure is the most common cause of mortality [1].

The outlook for patients with the disease has improved steadily over many years, largely as a result of earlier diagnosis, more aggressive therapy, and provision of care in specialised centres. As a result, extra-pulmonary manifestations are becoming more frequent [2].
Gastointestinal manifestations include gastroesophagheal reflux, peptic ulceration of the gastric and duodenal mucosa, distal intestinal obstruction syndrome (DIOS), rectal prolapse and malignancies.

DIOS occurs in 10%–24% of CF patients being the most common gastrointestinal complication in patients following lung transplantation. Although, the incidence has decreased after the introduction of microsphere pancreatic enzymes.
It is thought to be caused by pancreatic insufficiency, thickened intestinal secretions, undigested food remnants and poor motility, with resultant impaction of mucofeculent material in the distal ileum. The most common radiographic finding is a bubbly soft tissue mass in the right lower quadrant. However, usually clinical signs, symptoms, and plain radiographic findings can be somewhat nonspecific; in such cases, CT allows diagnosis.

Other causes that can lead to intestinal obstruction are:
Intussusception: it affects approximately 1% of patients but occurs most commonly in older patients. It is most frequently ileocolic and is related to an inspissated fecal mass that acts as a lead point. It may occur as a complication of distal intestinal obstruction syndrome. Radiologic appearances of intussusception range from a doughnut or pseudokidney appearance at US to the target sign of oedematous bowel and intermixed mesenteric fat at CT.

Fibrosing colonopathy: is a known cause of colonic stricture and obstruction and typically involves the right colon. It is thought to be related to high-strength pancreatic enzyme replacement [3, 4] and is almost exclusively reported in children.

In conclusion, intussusception is an uncommon but important cause of abdominal pain and bowel obstruction in adults with CF. Imaging findings can be helpful in reaching a diagnosis [5].