Presentation, clinical features, and results of intervention in upper extremity fibromuscular dysplasia

We present a case series of upper extremity fibromuscular dysplasia (UE FMD) consisting of 22 patients from two tertiary referral centers focusing on clinical presentation, diagnostic findings, and interventional outcomes. FMD is a noninflammatory, nonatherosclerotic arteriopathy that has a predisposition for middle-aged women. Involvement of the UE is thought to be rare. Patients with UE FMD can present with claudication or ischemia, or they can be incidentally diagnosed. The treatment approach is dictated by clinical presentation.

Data were collected of patients with UE FMD evaluated at two centers. Demographic data, presenting UE symptoms, UE arteries involved, FMD type, diagnostic method, physical examination findings, management, and outcomes were included.

Twenty-two patients (29 limbs) were diagnosed with UE FMD. The brachial artery was most commonly involved (89.7% of affected limbs). More than half of limbs (n = 15 of 29 limbs [51.7%]) were asymptomatic, and of those who presented with symptoms, the most common symptoms were ischemic fingers or hand (31% of all affected limbs) and hand or arm claudication (27.6% of all affected limbs). UE FMD was noted on catheter angiography in 58.6% (n = 17 of 29 limbs), duplex ultrasound in 41.4% (n = 12 of 29 limbs), and computed tomography angiography in 27.6% (n = 8 of 29 limbs). Of the symptomatic limbs (n = 14), the majority were treated solely with medical therapy as the first intervention (57.1%). For symptomatic limbs treated with vascular intervention (n = 5), angioplasty was most commonly performed. Only 4 of the 14 limbs (28.6%) had complete symptomatic relief after the initial first intervention, in which 2 limbs were treated with medical therapy, 1 limb underwent angioplasty, and 1 limb had resolution of symptoms despite deferment of any therapy. Of the 10 limbs with residual symptoms after the first intervention, 6 limbs underwent a second intervention: angioplasty in 2 limbs initially treated medically (33.3%), surgical bypass in 2 limbs initially treated with angioplasty, surgical bypass in 1 limb initially treated with medical therapy, and sympathectomy in 1 limb (16.7%) initially treated with angioplasty. Both surgical bypass and angioplasty as secondary interventions resulted in complete symptom relief.

Presenting symptoms for patients with UE FMD vary in severity from asymptomatic disease to digital ischemia. More than half of symptomatic limbs eventually require at least one invasive intervention for complete relief of symptoms.