Parkes-Weber Syndrome with Pulmonary Hypertension Due to Multiple arteriovenous Fistulas

Parkes-Weber syndrome (PWS) is an arteriovenous vascular malformation. It occurs at birth and affects mainly the lower limbs (77%). Detection of arteriovenous fistula associated with the Klippel-Trénaunay syndrome (KTS) triad confirms the diagnosis of this syndrome. (1, 2) The KTS is characterized by the typical triad of cutaneous vascular port wine stains, soft tissue and/or bone hypertrophy and varicose veins (Figure 1). The difference between PWS and this syndrome is that PWS presents high-flow vascular lesions and arteriovenous fistula, no anomalous lateral veins, lymphatic malformations are rare, and the musculoskeletal involvement and dissymmetry of the affected extremity is lower than in KTS. (3) The major complication in PWS is the increased cardiac output that can lead to heart failure, pulmonary hypertension, and cutaneous ischemia, caused by high-flow arteriovenous fistulas. (3) Although its etiology is unknown, PWS has been associated with mutation of the E133K gene in the angiogenic factor VG5Q, which controls the growth of blood vessels for angiogenesis and vasculogenesis during embryonic development, and is transmitted by autosomal dominant inheritance with variable expressivity. PWS is much less common than KTS. (4) High cardiac output with heart failure and pulmonary hypertension is associated with different conditions, including traumatic arteriovenous fistulas and therapeutic and congenital ductus arteriosus. The primary pathophysiological event is reduced peripheral vascular resistance due to peripheral vasodilation or arteriovenous fistula, and both scenarios can lead to a reduction of systemic blood pressure, neurohormonal activation, ventricular remodeling, and heart failure. In these cases, conventional therapy for heart failure, such as angiotensin-converting enzyme inhibitors, beta blockers, and angiotensin receptor blockers, reduces peripheral vascular resistances and may result in the patient’s clinical deterioration, although the literature reports this treatment in some cases. Treatment consists of elastic compression, ligation of arteriovenous fistulas, orthopedic therapy, and eventually percutaneous embolization, in many cases resulting in limb amputation. We present the case of an 11-year-old male Argentine patient, with no family history of this condition. The patient presented with an 8-year history of the disease, with difficulty in walking during childhood associated with multiple falls, increased volume, hyperpigmentation and indurations in the left lower limb. He referred FC II dyspnea (New York Heart Association [NYHA] classification) associated with nocturnal dry cough. He also presented with elevated lesions and pruritic honey-colored scabs, moderate pain and heaviness of the left lower limb together with spontaneous hemorrhages described as a continuous stream of blood shooting up to 50 cm, with a frequency of five episodes in the last month.