Hereditary sensory and autonomic neuropathy

Hereditary sensory and autonomic neuropathy (HSAN), also known as hereditary sensory neuropathy (HSN) or hereditary sensory and autonomic neuropathy group, encompasses a clinically and genetically heterogeneous group of rare inherited disorders that primarily affect the peripheral sensory and autonomic nervous systems. These conditions are characterized by progressive degeneration or abnormal development of sensory neurons (particularly small fiber neurons responsible for pain and temperature sensation) and, to varying degrees, autonomic neurons that control involuntary body functions such as sweating, blood pressure regulation, and gastrointestinal motility. HSANs are classified into several subtypes (HSAN types I through VIII and additional forms), each with distinct genetic causes, inheritance patterns, and clinical presentations. Common features across the group include reduced or absent pain and temperature sensation, which can lead to painless injuries, chronic skin ulcers, infections, and in severe cases, acral mutilation and osteomyelitis requiring amputation. Autonomic dysfunction may manifest as anhidrosis (inability to sweat), episodic fevers, postural hypotension, gastrointestinal disturbances, and impaired lacrimation. Some subtypes present at birth or in infancy with severe manifestations including feeding difficulties and failure to thrive, while others have a later onset with predominantly sensory symptoms. There is currently no cure for HSAN. Treatment is supportive and multidisciplinary, focusing on prevention and management of complications. This includes meticulous skin and wound care, protective footwear, regular monitoring for injuries and infections, pain management when neuropathic pain is present, and management of autonomic symptoms. Orthopedic interventions may be necessary for skeletal complications. Genetic counseling is recommended for affected families. Early diagnosis and preventive strategies are essential to minimize tissue damage and improve quality of life.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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