2024年 · 第104卷第47期

The 27-year-old female patient visited the emergency department of Peking Union Medical College Hospital in November 2023 due to sudden abdominal pain while carrying heavy objects. Blood routine: white blood cells 3.66×10⁹/L, hemoglobin 41 g/L, platelets 30×10⁹/L; Abdominopelvic enhanced CT: the spleen was obviously enlarged, the lower pole reached the level of the iliac fossa, the density in the parenchyma was uneven with flaky slightly higher density shadows, the lumen at the confluence of the three branches of the portal vein was obviously widened, and tortuous and thickened blood vessel shadows were seen in the lower left (yellow arrows in Figures A and B); Ultrasound of the left lower limb: extensive skin layer, subcutaneous tissue and intramuscular lesions of the lower limb, considering vascular malformation. Physical examination: the left lower limb was significantly thickened, longer than the right lower limb (Figure C), splenomegaly, 5 cm past the anterior median line. Past history: both lower limbs were of unequal length, and the left lower limb was swollen and thickened for more than 20 years. Splenectomy was performed when splenic rupture was considered in emergency department. Postoperative pathology: splenic vascular malformation and hemangioma. Combined with the past medical history of the patient, it was considered that vascular bone hypertrophy syndrome (KTS) was highly likely. KTS is a rare congenital disorder presenting as a triad of cutaneous vascular plaques, venous malformations, and limb overgrowth with or without lymphatic malformations. Most patients with KTS carry somatic variants of PIK3 CA, and multiple genetic defects have now been found to be likely causative factors in KTS, including angiogenic growth factor VG5 Q overexpression and nascent supernumeral circular chromosome 18. The comprehensive diagnosis of KTS is mainly based on the important clinical features mentioned above, and localized intravascular coagulopathy in the area of venous malformation is a common complication, so patients with KTS have an increased risk of deep vein thrombosis and pulmonary embolism. This patient had typical lower extremity malformations, multiple venous malformations of the spleen, and excessive limb growth, considering KTS. Platelets were normal and anemia improved after splenectomy. Regarding the venous malformation of the affected limb, the deep vein and lymphatic trunk are evaluated. At present, there is no stenosis and occlusion. No surgical intervention is required for the time being. Elastic stockings can be worn to increase reflux. The vascular ultrasound and D-dimer levels of the lower limb can be closely monitored to be alert to thrombosis.