Diagnosis and Management of Orthopaedic Conditions Associated With Hereditary Sensory Autonomic Neuropathies.

Abstract

Hereditary sensory and autonomic neuropathies (HSANs) encompass a diverse group of inherited neuropathies characterized by notable sensory and autonomic involvement that affects musculoskeletal structures and systemic function. There are 8 recognized types of HSAN. The orthopaedic manifestations of HSAN are complex and diverse, including spinal deformity, Charcot arthropathy, osteomyelitis, fractures, osteonecrosis, osteoporosis, and skeletal deformities. The sensory neuropathy with involvement of small nerve fibers can lead to unnoticed burns, fractures, and joint trauma. Spinal involvement includes progressive scoliosis/kyphosis and acute neurologic compromise. Diagnosis is dependent on clinical suspicion and confirmed with genetic analysis. Treatment is focused on the eradication of infection, stabilization of fractures, and prevention of joint instability in the spine and extremities. This review focuses on the orthopaedic manifestations to aid healthcare professionals in the recognition and treatment of these conditions.