Parkes Weber syndrome—Diagnostic and management paradigms: A systematic review

Abstract

Objectives Parkes Weber syndrome is a congenital vascular malformation which consists of capillary malformation, venous malformation, lymphatic malformation, and arteriovenous malformation. Although Parkes Weber syndrome is a clinically distinctive entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome that consists of the triad capillary malformation, venous malformation, and lymphatic malformation. Methods We performed a systematic review investigating clinical, diagnostic, and treatment modalities of Parkes Weber syndrome (PubMed/MEDLINE, Embase, and Cochrane databases). Thirty-six publications (48 patients) fulfilled the eligibility criteria. Results The median age of patients was 23 years (IQR, 8-32), and 24 (50.0%) were males. Lower extremity was affected in 42 (87.5%) and upper extremity in 6 (12.5%) patients; 15 (31.3%) patients developed high-output heart failure; 12 (25.0%) patients had chronic venous ulcerations, whereas 4 (8.3%) manifested distal arterial ischemia. The spinal arteriovenous malformations were reported in six (12.5%) patients and coexistence of aneurysmatic disease in five (10.4%) patients. The most frequently utilized invasive treatments were embotherapy followed by amputation and surgical arteriovenous malformation resection, and occasionally stent-graft implantation. All modalities showed clinical improvement. However, long follow-up and outcome remained unclear. Conclusion A diagnosis of Parkes Weber syndrome should be made on the presence of capillary malformation, venous malformation, lymphatic malformation, and arteriovenous malformation (as main defect) in overgrowth extremity. Arteriovenous malformation presents the criterion for distinguishing Parkes Weber syndrome from Klippel-Trenaunay syndrome, which is substantial for treatment strategy. 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 arteriovenous malformation "nidus" reliably leads to clinical improvement.

Three cases with Klippel-Trenaunay syndrome and treatment options

“…Another point to be considered in the differential diagnosis is that KTS should be differentiated from Parkes Weber Syndrome characterized by capillary malformation, hypertrophic extremity, heart failure associated with hyperdynamic arteriovenous fistulas. It was stated that arteriovenous malformation presents the criterion for distinguishing Parkes Weber syndrome from Klippel-Trenaunay syndrome [13].…”

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

“…It is due to the presence of multiple AVFs along the affected extremity. These AVFs are readily detected by Doppler ultrasound or magnetic resonance angiography [85]. As a rule, the lower extremities are Figure 2.…”

Klippel-Trenaunay syndrome: case report and literature review

“…PWS is distinguishable from KTS primarily by the presence of one or more hemodynamically significant arteriovenous fistulas. Due to the presence of the high-flow arterio-venous fistula, the treatment and prognosis of PWS vary greatly in comparison to KTS and these two entities should by considered as different diseases [2,6,11,15,31,33,36,46]. Patients with KTS may have arteriovenous fistulas but the shunts are usually not clinically important [11,15].…”