A Rare Clinical Presentation of Lower Extremity Edema
Author: Daniel Goldbach, DO, Additional Authors**
See the poster presentation | See the poster
When considering chronic venous disease in your patient with lower extremity edema you should think about vascular anomalies that could change how you evaluate and treat your patient. Klippel- Trenaunay Syndrome (KTS) is a complex congenital disorder that is described, utilizing the 2018 classification of the International Society of Vascular Anomalies, as a triad of capillary malformation, venous malformation, and limb overgrowth(1). The term “Klippel-Trenaunay Weber” was once used to describe patients with these findings as well as arteriovenous malformations (AVMs), but this is now known as Parkes Weber Syndrome (PWS). PWS is a rare disorder with incidence and prevalence not known. PWS is associated with RASA1 mutations, but it is not yet clear how this contributes to vascular abnormalities and limb overgrowth(2). The AVMs in PWS can be associated with life-threatening complications, including abnormal bleeding and heart failure. No single specialist can manage PWS and its associated problems because different interventional techniques and surgical procedures are often needed. The primary management goal should be patient’s quality of life improvement and complication reduction. Embolization alone/combined with surgical resection targeting occlusion or removal of AVMs reliably leads to clinical improvement(3).
I would like to present the case of a 79-year-old white male with a past medical history significant for hypertension, atrial fibrillation, deep venous thrombosis, and pulmonary embolism that presented to our vascular medicine clinic with chief complaint of lower extremity swelling. Patient reported that his lower extremity swelling has been going on for years and that he was told that he has “arterial venous connections” in his legs. He reported being referred to a vascular surgeon who recommended intervention but declined invasive management at that time. Patient reported that since that time he had been getting progressive enlargement of nodules on his left lower extremity (Image 1 in poster). He saw his PCP for this and was referred to our vascular medicine office. Venous duplex showed highly pulsatile flow with venous reflux from the sapheno-femoral junction to the distal calf. MRI showed extensive venous malformation, AVF in the medial left thigh, multiple focal masses. Cyanoacrylate adhesive injection as attempted, but could only close the distal greater saphenous vein. Patient was referred for angiograms and consideration of plug placement, coil embolization.
Venous and lymphatic malformations have a reported prevalence of 1% in the population with 40% involving lower extremities (4). These malformations can be broadly defined as high-flow (HFM) and low-flow (LFM) malformations. HFM can be congenital or acquired from prior surgery, and can lead to compression neuropathy, soft tissue ulceration, bleeding, arterial steal phenomenon and high output cardiac failure. The diagnosis can be made clinically, and imaging can be used for confirmation. Sclerotherapy is more effective in LFMs and HFMs are most effectively treated with embolization.
The management of PWS requires a multi-disciplinary approach and should be carried out at a facility with experience in vascular anomalies. HFMs carry a higher risk of serious complications highlighting the importance of prompt diagnosis and referral to the appropriate center.
**Additional Authors:
Daniel Goldbach, DO, Doctors Hospital/OhioHealth
Andrew Pollard, DO, Doctors Hospital/OhioHealth
Raghu Kolluri, MD, Doctors Hospital/OhioHealth
