HSAN, short for Hereditary Sensory Autonomic Neuropathy, is a group of inherited disorders that affect the peripheral nervous system. The term "HSAN" is typically used as an umbrella term encompassing multiple subtypes of the condition, each with its own distinguishing characteristics and symptoms.
HSAN is a rare genetic disorder characterized by the deterioration and dysfunction of sensory and autonomic nerves. Sensory nerves transmit information regarding touch, pain, and temperature from the body to the brain, while autonomic nerves regulate involuntary bodily functions such as blood pressure, heart rate, and digestion.
The symptoms of HSAN may vary depending on the specific subtype, but commonly involve abnormalities in the sensory and autonomic systems. Sensory symptoms may include reduced or absent ability to perceive pain, temperature, or touch, leading to injuries or burns that go unnoticed. Autonomic symptoms may involve problems with blood pressure regulation, impaired sweating, gastrointestinal abnormalities, or urinary difficulties.
HSAN is typically inherited in an autosomal recessive pattern, meaning that individuals must inherit two copies of the mutated gene (one from each parent) in order to develop the disorder. Occasionally, HSAN may be inherited in an autosomal dominant or X-linked pattern. Genetic testing and counseling are essential in accurately diagnosing and managing HSAN.
While there is no cure for HSAN, treatment primarily focuses on managing symptoms and preventing complications. This may involve pain management strategies, physical therapy, occupational therapy, and regular monitoring of vital functions. Early diagnosis and intervention can significantly improve the quality of life for those affected by HSAN.
