Pulmonary Thromboembolism Associated With Klippel-Trenaunay Syndrome

Abstract

ABSTRACT. Klippel-Trenaunay syndrome (KTS) is a rare congenital anomaly characterized by unilateral limb overgrowth, venous varicosities, and capillary malformations (port wine stains) of the affected limb or limbs. Large venous malformations such as those observed in KTS are rare, and many physicians are unfamiliar with the potential complications, which include hypercoagulability, thrombosis, and pulmonary embolism (PE). As a result, patients may suffer from delayed diagnosis of a potentially life-threatening thromboembolic event. We present 2 cases of children with KTS complicated by PE, and we review the English-language literature regarding pathophysiologic features, interventions, and outcomes of PE in the setting of KTS among both pediatric and adult patients, with emphasis on issues relevant to pediatricians. I n 1900, French physicians Klippel and Trenaunay described a patient with massive hemihypertrophy of the lower extremity associated with a large, confluent, red-blue plaque and venous varicosities. 1 The term Klippel-Trenaunay syndrome (KTS) has since been used to describe rare, congenital, vascular malformations identified by the classic clinical triad of venous varicosities, ipsilateral cutaneous capillary malformations, and bony/soft-tissue overgrowth of the affected limb or limbs. As our understanding of vascular lesions evolves, it is clear that the constellation of findings reported by Klippel and Trenaunay represents complex, mixed, vascular malformations, often with venous, capillary, and lymphatic components, with various clinical consequences, including hypercoagulability and the complications that ensue. We describe 2 children with KTS of the lower extremity who suffered from pulmonary embolism (PE). CASE REPORTS Patient 1A 14-year-old boy with a combined capillary-venous-lymphatic malformation of the right lower extremity who had been diagnosed as having KTS at birth presented to an outside institution after 2 episodes of syncope. During these episodes, he was unresponsive for several minutes and was observed to have circumoral cyanosis and tonic posturing. Two weeks earlier, the child had been treated for cellulitis, with fever, pain, and warmth of his affected extremity; blood cultures were positive for Staphylococcus aureus, and the patient was treated with a course of orally administered cephalexin. After the second episode of syncope, the patient was transferred to Children's Hospital of Wisconsin (Milwaukee, WI) for evaluation.In the physical examination, the child was pale and lethargic, with a heart rate of 119 beats per minute, a respiratory rate of 28 breaths per minute, and oxygen saturation ranging from 93% to 97% with room air. A cardiac examination revealed a new grade II/VI systolic murmur. The lungs were clear. The right lower extremity was enlarged, with 2ϩ edema at the ankle to mid-shin level, which was its usual size, according to the boy's family. There was an extensive red-purple patch extending from the right buttock to the lateral ankle (Fig 1). There were hundred...

Deep Vein Thrombosis in Patients with Severe Motor and Intellectual Disabilities

“…As DVT is associated with the malformation of blood vessels, there is an association with Klippel-Trenaunay syndrome and Proteus syndrome; in particular, KlippelTrenaunay syndrome (KTS) is characterized by mainly port-wine stain capillary malformation, varicose veins, and bony and soft tissue hypertrophy involving an extremity. It is also commonly associated with hypoplasia or aplasia of the veins of the lower limbs, the varicosities of which expand remarkably with age; 25,26) KTS has also been reported to have the potential complications of DVT and to bring on PTE frequently, [24][25][26] so future studies should examine this issue in detail. Heparin and warfarin as anticoagulant therapy have been used in the treatment and management of DVT, 15,28,29) and warfarin monotherapy for DVT at the onset of treatment has been associated with a high relapse rate, so it has been considered essential to apply combined therapy of heparin and warfarin in the treatment of DVT.…”

Diagnosis and management of extensive vascular malformations of the lower limb

“…The main complication of Parkes Weber syndrome and StewarteBluefarb syndrome (SBS) is an increase in cardiac output secondary to the A-VM, which can cause ischemia-induced skin ulceration and heart failure in the most severe cases. 37 Whether or not the vascular malformation involves the trunk, many patients with extensive vascular malformations in the limb present with pulmonary hypertension caused by recurrent pulmonary embolisms 38,39 or a proliferation of new vessels, possibly related to neoangiogenesis.…”

A 39-year-old woman with atypical variant of Klippel-Trénaunay syndrome and progressive thromboembolic pulmonary hypertension, successfully treated by pulmonary thromboendarterectomy (RCD code: II-1A.5)

“…Chronic presentation and lack of adequate treatment can lead to CTEPH [25][26][27][28][29][30]. The early diagnosis of recurrent PE is crucial for proper treatment and prevention of CTEPH [3,26].…”