Abdominal Pain and Vomiting in a Boy with Factor VII Deficiency

Abstract

An 11-year-old Omani boy with a known congenital factor VII deficiency presented with a four-day history of colicky abdominal pain, bilious vomiting, and constipation without gastrointestinal bleeding. When he was 14 months old, he was diagnosed with factor VII deficiency following a history of recurrent bruises and hemarthrosis with prolonged prothrombin time. The diagnosis was confirmed by identifying the presence of a homozygous pathogenic variant in the F7 gene, and since then, he has remained on on-demand factor VII replacement therapy. There was no history of fever, abdominal trauma, bleeding from any site, jaundice, or skin pruritus. Upon examination, the patient was in pain, had a mild pallor, and was hemodynamically stable. Cardiorespiratory and chest examination were unremarkable. Abdominal examination revealed tenderness in the epigastric and umbilical regions without rebound tenderness or organomegaly. Laboratory investigations revealed low hemoglobin at 10.4 g/dL (reference range: 11.5–14.0 g/dL), platelet count of 506 × 10⁹/L (150–450 × 10⁹/L), and white blood cell count of 8.9 × 10⁹/L (4.5–12 × 10⁹/L). The prothrombin time was significantly elevated at > 180 seconds (10.3–12.1). The child had an elevated international normalized ratio of > 20 (0.9–1.2). Activated partial thromboplastin time and fibrinogen were normal. C-reactive protein level was high at 18 mg/L (< 5 mg/L). Liver enzymes, amylase, and lipase were within normal ranges. An abdominal ultrasound revealed a hyperechoic mass measuring approximately 6.4 × 2.7 cm in the second part of the duodenum. The mass projected into the lumen of the duodenum, displacing the duodenal wall anteriorly with proximal gastric dilatation. The rest of the scan was normal.

Keywords