Dysautonomia is a disorder of the nervous system that specifically involves the autonomic portion comprising the sympathetic and parasympathetic systems. The inherited primary condition known as familial dysautonomia results in regulatory abnormalities in circulation and sweating with decreased sensation and physical growth as well.
Patients with dysautonomia have a large variety of symptoms and problems. Blood pressure may at times be too low and at other times too high. The amount of sweating is highly variable. The ability to sense pain and ambient temperature is reduced. Taste disturbances and skin blotchiness are common. Emotional and physical stress can precipitate ‘dysautonomic crises’ leading to vomiting, rapid heart rates and high blood pressure. Delayed development and physical growth are evident in many patients. Scoliosis is common. The lack of normal pain sensation may result in self-injury. Eating and swallowing difficulties may result in aspiration pneumonia when food enters the windpipe and lungs. The same risk is present during vomiting episodes.
Tear production and blinking are reduced and, coupled with decreased sensation may result in serious damage to the cornea (window of the eye) from drying. This can be exacerbated by inadequate eyelid closure during sleep. There is usually no overflow of tears during emotional crying. In some patients the optic nerve does not function normally.
The inherent instability of the circulatory system increases the risks of general anesthesia and it is important that surgeons and anesthesiologists are aware of the diagnosis before surgery is scheduled.
This is an autosomal recessive disorder in which clinically normal parents each have to contribute a mutation to their offspring in order for the disease to be expressed. In such families, each child has a 25% risk of inheriting the two mutations necessary for the disease to be expressed.
This is primarily a neurologic disorder although pediatricians may be able to diagnose it in young children. The prognosis has greatly improved in recent years through better recognition and treatment. Patients today have at least a 50% chance of surviving to age 40 years.
Regular visits to ophthalmologists are recommended to ensure that patients maintain proper moisture to the eyes. A number of treatments are available but frequent monitoring is necessary to prevent serious damage to the cornea.
Patients must ensure that, prior to any surgery, the entire surgical team is aware of the diagnosis of dysautonomia to avoid complications of anesthesia.