A 52-year-old male presents to the clinic complaining of bloody stool since this morning. He has a past medical history of surgery for anal atresia as a neonate and osteoarthritis. He occasionally takes NSAIDs over the counter for his osteoarthritis. His vital signs on admission are normal, but physical examination reveals mild scoliosis of the cervical and thoracic spine. He does not use tobacco or drink alcohol. He is hospitalized for further evaluation. Colonoscopy and upper gastrointestinal endoscopy are performed, but no bleeding site is found. On the second hospital day, a capsule endoscopy is performed and bleeding from the small intestine is detected. On the third day, the patient develops shock due to massive bleeding. Thus, emergency transcatheter arterial embolization is scheduled to control the bleeding. Computed tomography angiography (CTA) is performed before the procedure and it shows an hypoplastic left external iliac artery with abnormal blood flow from the left common iliac into the internal iliac artery.
Which of the following is the most likely diagnosis of the patient's findings?
Show Answer
The correct answer is: B. VATER syndrome
This patient's bleeding, past medical history of a surgery for anal atresia and vertebral defects (cervical and thoracic scoliosis), should raise suspicion for the diagnosis of VATER syndrome (Answer B). VATER association has been coined from a combination of the initials of Vertebral defects, Anal atresia, Tracheoesophageal fistula with Esophageal atresia, and Radial or renal dysplasia.1,2
At least two anomalies indicate a diagnosis of VATER association.1 In this patient who underwent interventional for intestinal bleeding, an abnormality of the left iliac artery was observed. VATER association is referred to as VACTERL association when it is combined with heart malformations and limb anomalies.1,2 From the embryological viewpoint, the mesoderm is derived from the heart and blood vessels. Hence, the combination of this vascular malformation was considered one of the phenotypes of VATER association. A common iliac artery abnormality may be added as a new malformation complicated with VATER association.1
Although Meckel's diverticulum can be a cause of small intestinal bleeding, it most commonly presents in the first 2 years of life. Moreover, this diagnosis cannot explain the other clinical findings observed in the patient (e.g., anal atresia) (Answer A).
Bleeding from NSAID use is a common cause of intestinal bleeding, however this cannot explain the rest of patient's symptoms (Answer C).
Abnormal blood vessels in the wall of the small bowel refers to arteriovenous malformations (AVM). AVMs are a common cause of small intestine bleeding in adults; however, this diagnosis cannot explain the patient's other symptoms (Answer D).
Educational Objective
The term "VATER" association has been coined from the combination of the initials for vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). The presence of at least two anomalies indicates a diagnosis of VATER association. In patients with VATER association, some also have further vascular anomalies,3 such as in this case.
References
Nakano T, Asaka T, Takemoto M, Imamura T, Ito T. A vascular anomaly of the iliac artery in a patient with VATER association. Clin Case Rep 2018;6:694–97.
Guptha S, Shumate C, Scheuerle AE. Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula. Am J Med Genet A 2019;179:2202-06
Log in to MyACC
