Bilateral limb ischemia in protein S deficiency: where do the thrombi come from?

A 35 year old, 75kg and 182cm man with a history of protein S deficiency and Ewing sarcoma of the left femur, non-IV drug use and recent smoking cessation presented to the Emergency Department (ED- with bilateral limb pain, after wearing compression stockings for motorcycle driving. He reported no trauma, and had to stop his driving session mid motorway, remove his protective clothing and call an ambulance due to excruciating leg pain. Pallor of both legs was noted prehospital, but at arrival in the Emergency Department (ED) there was only pallor of the feet, as well as poikilothermia of the lower third of both lower legs. Vital signs were: blood pressure 141/89 mmHg, cardiac frequency 98/min, oxygen 100% and a body temperature of 36.5°C

He presented seven days earlier for similar pain after kicking a heavy stone and complained of his whole left leg turning white. At home he first tried taking a warm bath but presented at the ED due to lack of improvement, where lower limb duplex ultrasound and Computed Tomography venous angiogram were done to rule out Deep Venous Thrombosis and acute limb ischemia respectively and the patient was then sent home with warning signs and a presumed diagnosis of post-traumatic vasospasm.

A repeat CT scan of the abdominal and lower limb arteries showed thrombi in both popliteal arteries as well as a mass in the left ventricle, presumably thrombosis.

Cardiac workup using CT heart and echocardiography revealed apical akinesis without coronary abnormalities or signs of patent oval foramen. When further questioning the patient, he remembered an episode of exercise linked chest pain irradiating to the jaw and left arm, and fall while on a snowboarding holiday about one month earlier, for which he presented to a local ED and was discharged with a diagnosis of a sternal contusion.

A successful transthoracic thrombectomy was performed after multidisciplinary consultation. Histological examination of the thrombus showed no signs of malignity or infection. Sadly 5 days after the procedure, the patient developed a new thrombus in the cardiac apex. A conservative treatment was initiated with vitamin K antagonists for life.

Protein S deficiency is a hereditary coagulation disorder predominantly resulting in venous thromboembolic events such as deep vein thrombosis and pulmonary embolism. In patients presenting with protein-S deficiency and arterial thromboembolism, we suggest to include a cardiac workup to check for emboligenic foci. In this case we suspect the episode of chest pain might have been a spontaneous coronary dissection or a small coronary embolism, leading to the apical myocardial infarction and local thrombosis.

Given the rise of Emergency Echocardiography a quick look cardiac ultrasound can be helpful in screening for contractility abnormalities or large cardiac masses, combined with a more detailed cardiology ultrasound later.