1225 - Joint Effort: Multispecialty Care in a Patient with Alkaptonuria

A 69-year-old man with a history of alkaptonuria, CAD, HLD, HTN, b/L TKA, left hip THA, and R humerus fracture (2012, s/p ORIF) initially presented on 10/09/23 with persistent left heel pain and bilateral shoulder pain. He was treated with PT, podiatry follow-up, CAM boot, topical diclofenac, and OTC analgesics. Patient underwent right hip replacement and right femur repair, with proper healing reported by orthopedics. PT continued for b/l shoulders and hips; right shoulder pain persisted, associated with posterior lipoma and stiffness. Imaging confirmed intact right shoulder arthroplasty and lipoma; EMG showed b/L CTS. Cervical MRI revealed diffuse spondylosis with C5–C6 cord indentation. He reported mild (3/10) left upper extremity pain, neck pain (5/10), and right shoulder pain. He continues PT, topical diclofenac, and follow-up with neurosurgery and rheumatology.

Discussions: This case illustrates the progressive musculoskeletal burden of alkaptonuria, with ochronosis leading to accelerated degenerative changes and multiple arthroplasties. Despite rehabilitation, the patient developed recurrent pain and stiffness, necessitating further evaluation. Identification of a posterior shoulder lipoma, EMG-confirmed bilateral carpal tunnel syndrome, and cervical spondylosis with cord indentation highlights the value of multimodal assessment when symptoms persist beyond expected recovery. These overlapping pathologies reflect the complex interplay of metabolic, degenerative, and structural processes in alkaptonuria.

Conclusions: Optimal care requires coordinated, multidisciplinary management involving physiatry, orthopedics, rheumatology, neurosurgery, and podiatry. Individualized PT, topical NSAIDs, and consideration of nitisinone may help maintain function and slow disease progression. Regular reassessment is essential to detect new pathology, ensure safe rehabilitation, and guide surgical planning. Vigilant follow-up and collaborative care ultimately improve the quality of life in patients with rare metabolic arthropathies.