Popliteal Entrapment Syndrome in Siblings: Coincidence or Inherited?

ABSTRACT:  A 17-year-old white male presented with left lower extremity claudication and was found to have left popliteal artery entrapment syndrome. The patient underwent revascularization with an interposition graft and had an uneventful recovery. One year later his 17-year-old sibling presented with an identical clinical picture of right popliteal entrapment syndrome with chronic occlusion of right popliteal artery requiring bypass surgery with an interposition graft. The patient had an uneventful postoperative course. The question arises at this point: can the occurrence of this rare condition in siblings be a pure coincidence or due to inherited genetic factors? To our knowledge this is the third familial related popliteal entrapment syndrome reported in the literature.

VASCULAR DISEASE MANAGEMENT 2014;11(5):E105-E107

Key words: peripheral vascular disease, peripheral anatomy, claudication

___________________________

Popliteal artery entrapment syndrome (PAES) is a rare condition; it has been reported to be familial in only three case reports including one involving monozygous twins.^1-3 We hereby present two siblings who presented with PAES at the same age.

Case 1

A 17-year-old white male was referred to the vascular surgery clinic after being seen by orthopedic surgery for disabling claudication in his left lower extremity of 2 months duration with significant worsening over the past week. The patient had four compartment fasciotomies performed by orthopedic surgery prior to referral for concern for exertional compartment syndrome. Upon evaluation, the patient did not have any prior significant past medical or surgical history. On physical examination, no pedal or popliteal pulses were felt; the patient had intact motor and sensory function of his left lower extremity. The patient underwent angiography, which revealed complete occlusion of the left popliteal artery (Figure 1). The patient underwent a posterior approach for exposure of the popliteal fossa. The popliteal artery was found to be coursing medial to the medial head of the gastrocnemius muscle medially. Proximal and distal control of the artery was obtained, the artery was divided, and an interposition lesser saphenous vein graft was used to reestablish flow. The patient had an uneventful hospital course. Upon 1-year follow-up, the patient was asymptomatic with palpable pedal pulses.

Case 2

A 17-year-old white male who is the sibling of the patient described in case 1 was referred to vascular surgery 1 year after presentation of his sibling with worsening right lower extremity disabling claudication for the past 6 months. The patient did not have any significant previous medical or surgical history. Upon physical examination, the patient was found to have no pedal or popliteal pulses in his right lower extremity. The patient underwent angiography, which revealed complete occlusion of the right popliteal artery (Figure 2). Using a posterior popliteal approach to expose the right popliteal fossa, the popliteal artery was found to be medially displaced by the medial head of the gastrocnemius muscle. An interposition lesser saphenous vein graft was used to restore blood flow. The patient had an uneventful postoperative course and was discharged home on postoperative day 1. In outpatient follow-up the patient had palpable pedal pulses with complete recovery.

Discussion

While the true incidence of PAES is difficult to obtain, the reported incidence ranges from 0.2% to up to 3.5% in postmortem autopsies of the general population.³ The condition might be underreported and can account for up to 60% of cases involving young adults with claudication symptoms.⁴ Therefore it is important to have PAES in the differential diagnosis when evaluating young patients with disabling claudication. While the exact pathophysiology of the syndrome is not completely understood, it is believed that the anomaly occurs at the embryologic level of development depending on the timing of migration of the popliteal artery and the medial head of the gastrocnemius muscle. 

In our two patients with this condition, the popliteal artery was pushed medially by the medial head of the gastrocnemius muscle, likely as a result of early embryologic development of the popliteal artery which was eventually displaced medially by the developing medial head of the gastrocnemius muscle.⁴ With the pathophysiology of the PAES occurring at the embryologic level, the possibility of genetic factors influencing the development of the syndrome is a valid possibility; therefore the anomaly might be more commonly familial than is reported, because family members can have the condition but not be symptomatic, and that does not warrant any treatment. 

The treatment approach of PAES depends on the condition of the artery. In our case mere myotomy would not suffice because the popliteal artery was completely occluded, therefore bypass using the short saphenous vein was performed to reconstitute flow to the lower extremities. Finally, it should be emphasized that careful physical examination and thorough family history should be obtained in patients presenting with PAES, because siblings might need to be made aware of the possibility of having the anomaly and should come into medical attention in case they become symptomatic. Further advancement in genetic mapping might explain the presence or absence of familial inheritance patterns in PAES, which might affect the diagnosis and management of this rare condition. 

Editor’s Note: Disclosure: The authors have completed and returned the ICMJE Form for Disclosure of Potential Conflicts of Interest. The authors report no disclosures related to the content of this manuscript. 

Manuscript submitted September 10, 2013; manuscript accepted November 1, 2013. 

Address for correspondence: Elias Kfoury, MD, Inova Fairfax Hospital, Falls Church, VA 22042, United States. Email: elias.kfoury@hotmail.com.

References  

Soyka P, Dunant JH. Popliteal artery entrapment syndrome: familial occurrence. Vasa. 1993;22(2):178-181.

Al-Basheer M, Hadadin F, Al-Zoubi O, Quran Z. Familial popliteal artery entrapment syndrome: a case report. JRMS. 2003;10(2):63-65.

Jikuya T, Fukuda I, Hasegawa N, Nakajima H. Popliteal artery entrapment syndrome of the monozygotic twin--a case report and pathogenetic hypothesis. Jpn J Surg. 1989;19(5):607-611.

Levien LJ, Veller MG. Popliteal artery entrapment syndrome: more common than previously recognized. J Vasc Surg. 1999;30(4):587-598.