Abstract
RATIONALE: To explore the early diagnosis and treatment of Klippel-Trenaunay syndrome (KTS), and provide useful and systematic clinical references for the diagnosis and treatment of such congenital vascular malformations combined with long-term gastrointestinal bleeding. PATIENT CONCERNS: A 32-year-old male patient was admitted due to "intermittent rectal bleeding for 32 years, worsening for over 3 months." The patient had experienced intermittent bright red rectal bleeding since birth. DIAGNOSES: After comprehensive clinical examination, imaging evaluation (including abdominal computed tomography and ultrasound), and gastroscopy, the final diagnosis was KTS, and it was found that gastrointestinal bleeding was caused by intestinal vascular malformation. INTERVENTIONS: After admission, the patient was provided with gastric acid inhibition and medication for hemostasis. Following the exclusion of contraindications, a colonoscopy indicated the presence of multiple venous varicosities from the splenic flexure to the rectum. Multiple injections of polidocanol and meilan, totaling 45 mL, were administered, leading to significant sclerosis of the varicose vessels. Six months after discharge, endoscopic sclerotherapy for multiple colonic varices was performed again, with a total injection of 40 mL of polydocanol and meglumine. OUTCOMES: Throughout the first hospitalization period, there was no recurrence of rectal bleeding. The patient had outpatient follow-up visits after discharge, and the results of routine blood tests showed stable hemoglobin levels. The patient was regularly followed up by telephone after secondary treatment. As of March 2024, the patient had not experienced rectal bleeding and had largely resumed normal work and life activities. LESSONS: Endoscopic therapy can provide significant benefits for patients with KTS complicated by long-term gastrointestinal bleeding. However, KTS cannot currently be cured, and early diagnosis, standardized evaluation, and regular follow-up are key to the collaborative management and treatment of KTS patients.