HSAN Type III, also known as familial dysautonomia (FD), is a rare genetic disorder characterized by dysfunction of the autonomic nervous system. It is an inherited condition that affects the development and function of certain nerves in the body.
The autonomic nervous system controls the involuntary functions of the body, such as regulation of heart rate, blood pressure, body temperature, digestion, and sweating. In individuals with HSAN Type III, the autonomic nerves are not fully developed or function properly, leading to various symptoms and complications.
Common features of HSAN Type III include difficulties in the regulation of blood pressure and body temperature, as well as gastrointestinal problems such as poor swallowing coordination, gastroesophageal reflux, and delayed digestion. Individuals may experience decreased sensitivity to pain and temperature, reduced or absent tears, self-mutilating behavior, and poor muscle tone.
Another notable characteristic of HSAN Type III is the impairment of sensory function. Patients often have decreased awareness of pain, which can lead to accidental injuries and burns. They may also have diminished perception of taste and smell.
HSAN Type III is caused by a specific genetic mutation that affects the production of a protein called IkB kinase complex-associated protein (IKBKAP). This mutation is inherited in an autosomal recessive manner, meaning that an affected individual must receive two copies of the defective gene, one from each parent. Genetic testing can be used to confirm a diagnosis.
Treatment for HSAN Type III is mainly focused on managing the symptoms and complications. A multidisciplinary approach involving various specialists, such as neurologists, gastroenterologists, and pain management experts, is often necessary to provide comprehensive care to individuals with HSAN Type III.
