Gastric antral vascular ectasia in children, rare presentation

Background

Gastric antral vascular ectasia (GAVE) is a capillary-type vascular malformation, commonly affecting the gastric antrum. GAVE is a rare cause of non-variceal upper gastrointestinal (GI) bleeding.1 GAVE typically presents in middle-to-older age patients, mostly women (71%), with an average age of 73 years (range between 53 and 89 years).2 Prevalence in adults is 4%, but prevalence in children is unknown.2 GAVE commonly presents with iron-deficiency anaemia, but patients can present with acute massive fresh bleeding requiring ample amounts of red cell transfusion or with chronic GI bleeding.

Although pathogenesis has not been clearly identified in paediatrics, many theories have been postulated, including hormonal, autoimmune factors, mechanical stresses and haemodynamic alterations.3

Case presentation

A 14-year-old boy, known to suffer from cerebral palsy (due to perinatal hypoxic encephalopathy and Christianson syndrome), presented to paediatric emergency with a 2-day history of melaena unassociated with abdominal pain, coffee ground stained vomiting or bleeding from gastrostomy site. Christianson syndrome is an X-linked syndrome, associated with microcephaly, seizures and intellectual disability due to mutation in SLC9A6 gene. Patient was a wheelchair user and fed via gastrostomy tube. He had similar episodes during the previous 2 years and was treated conservatively with regular proton pump inhibitors and H2-receptor antagonist.

Physical examination revealed a malnourished boy weighing 34 kg, with tachycardia and pallor but no tachypnea. On palpation, he had a soft, non-tender abdomen and no masses were felt. Blood stains were noted around the gastrostomy site. Haemoglobin was 57 g/L, haematocrit 23.2% and mean cell volume 96.3 fL. Urine dipstick, renal profile, liver enzymes and coagulation screen were all within normal range.

After resuscitation, the patient was transfused 350 mL of packed red blood cells and treated conservatively with intravenous medications consisting of proton pump inhibitor (omeprazole), H2-receptor blocker (ranitidine) and sucralfate. Abdominal ultrasound scan (USS) and Meckel’s scan (MS) were performed. Both results were normal. Post-transfusion haemoglobin level was 8.4 g/dL.

The paediatric gastroenterology team was consulted and advised feeding change to elemental hydrolysed formula (amino acid-based formula). After clinical stabilisation and adequate preparation, the patient underwent oesophagogastroduodenoscopy (OGD) and full colonoscopy. Endoscopy findings revealed the presence of lower one-third oesophagitis, with no variceal lesions. No active bleeding was visible from the stomach wall mucosa. Lining of the gastric mucosa revealed hyperemic steak-like gastritis, raised on the surface and alternating with patchy normal-looking mucosa along the antrum and pylorus. No definite ulcers or polyps were otherwise visible; significant duodenitis over the first and second part of the duodenum were present. Macroscopically, there were areas of non-velvet appearance of the duodenal mucosa, distributed irregularly (figure 1). Endoscopic mucosal biopsies were obtained from different duodenal, gastric and oesophageal sites for histopathology review. Prior to colonoscopy, examination under anaesthesia (EUA) was performed, revealing healing posterior anal fissure with no ulcers. The colonoscopy showed colitis throughout the whole descending and sigmoid colon and the rectum (figure 2).

Biopsies obtained from the oesophagus (figure 3) and stomach (figure 4) showed mild chronic reflux changes, with the stomach showing foveolar hyperplasia. Biopsies taken from the colonoscopy noted a preserved crypt architecture with normal lamina propria cellularity. No evidence of active inflammation or microscopic colitis were visible.

Clinical and endoscopic findings were discussed at the paediatric multidisciplinary team meeting. The gastroenterology team suggested that patient’s findings mimic those found in GAVE syndrome. It was suggested to convert intravenous medications to enteral form via gastrostomy. The final plan was to repeat the endoscopic procedure, while proceeding with an endoscopic spray coagulation if bleeding persisted or recurred.

The patient achieved full recovery and received follow-up appointments with both teams. Enteral medications were continued at home, including proton pump inhibitor, H2-receptor antagonist and sucralfate. Three weeks later, a small bowel MRI was carried out and showed no pathological abnormality. Clinical improvement and satisfactory results were confirmed by surveillance OGD and consecutive follow-up.

Investigations

Haemoglobin on admission was 5.7 g/dL (11.0–14.5 g/dL), which improved to 8.4 g/dL, with haematocrit of 23.2% (33.9%–43.5%) and mean cell volume of 96.3 fL (76.7–89.2 fL). Renal profile, liver enzymes and coagulation screen were normal. Radiological investigations carried out, including USS, MS and MRI of the small bowel showing normal findings. OGD and colonoscopy with perianal EUA were performed.

Differential diagnosis

Maelena and/or haematemesis are suggestive of an upper GI bleed. In younger children, the likely aetiologies include stress ulcers and mucosa erosions while in older children, causes could be trauma (Mallory-Weiss tear), duodenal ulcers, oesophagitis or gastritis,4 rarely coagulation disorders and Dieulafoy lesions (DL).

Oesophagitis is inflammation of the lining of the squamous oesophageal epithelium, due to gastro-oesophageal reflux disease (regurgitated gastric and duodenal fluids include pepsin, trypsin and gastric acid), infections, eosinophilic oesophagitis, food allergies or iatrogenic causes, with the former three being the most common in the paediatric age group.

Peptic ulcers (PUs) are present as discontinuities in gastric or duodenal mucosal tissues, with penetration up to the muscularis mucosa.5 PU in children is uncommon with an annual incidence of 5.4/100 000.6 Primary ulcers, mostly found in the antrum or the lesser curve of the stomach, arise due to an increased production of hydrochloric acid and pepsin. Secondary ulcers are caused by pathological extragastric events such as drugs (non-steroidal anti-inflammatory drugs and immunosuppressive medications), stress or infections (Helicobacter pylori).7

DL is uncommon and represents 6% of fatal non-variceal bleeding of upper GI tract. This is a vascular abnormality, which consists of large calibre, tortuous and persistent submucosal artery. This artery protrudes through a small mucosal defect yet shows no other arterial wall abnormality. Ulcerations are limited to the overlying mucosa, with the surrounding mucosa appearing histologically normal.8

Treatment

The patient was initially transfused packed red blood cells. He was treated conservatively with intravenous medications consisting of proton pump inhibitor, H2-receptor blocker and oral sucralfate. Paediatric gastroenterology team advised establishing elemental hydrolysed feeding formula.

Outcome and follow-up

After full recovery, he was monitored thoroughly by both surgical and medical teams and underwent follow-up surveillance OGD, which noted remarkable clinical improvement. There was no indication for surgical antrectomy as the patient recovered well. He was kept on his regular medications along with proton pump inhibitors and H2-receptor antagonist.