1312 - Essential Thrombocythemia leading to an above the knee amputation

Case Diagnosis: Essential Thrombocythemia (ET)

Case Description: The patient is a 71-year-old male with PMH of CAD, HFrEF, a previous cryptogenic stroke, and PAD s/p failed bypass who underwent a right below-the-knee amputation (BKA) in April 2023. He was found to be JAK2 V617F positive with untreated essential thrombocythemia (ET) due to being lost to follow-up. In August 2024, he presented with tenderness, drainage, and swelling at the BKA stump. Labs revealed thrombocytosis, anemia, and leukocytosis. CTA demonstrated occlusion of the right iliac, femoral, and superficial femoral arteries. Despite negative blood cultures, he was treated empirically for suspected osteomyelitis and wound infection. On 9/4/24, he underwent right axillo-profunda bypass with above-knee amputation. He was then transferred to Lynn Rehab Center after being deemed medically stable.

Discussions: At Lynn Rehab Center, the patient presented with critical illness myopathy and significant functional decline. Initial evaluation showed dependence in ADLs with toileting, bathing, and putting on shoes requiring the caregiver to do more than half of the work. After one week of intensive PT/OT, he progressed to supervision or touching assistance in self-care in the same categories. Mobility improved from wheelchair independence only to walking 50 feet with hop to gait and a caregiver doing less than half of the effort. He was discharged with home health after leaving AMA.

ET is a myeloproliferative disorder involving microvascular and large-vessel thrombosis. In this patient, untreated ET contributed to recurrent arterial occlusion, impaired wound healing, and repeated amputation. Negative cultures emphasized the thrombotic rather than infectious etiology. PM&R played a pivotal role in addressing the patient’s deconditioning and restoring independence.

Conclusions: This case underscores the importance of early recognition and treatment of ET to prevent vascular complications, particularly in patients with PAD. Given the patient’s medical complexity and comorbidities, acute inpatient rehabilitation following prolonged hospitalization was essential for optimizing functional outcomes.