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Familial Dysautonomia

Familial dysautonomia is an inherited dysfunction of the autonomic nervous system. The condition is very rare, and inheritance is limited to Jewish individuals of Ashkenazic extraction.

The autonomic nervous system controls glandular activity and the function of the respiratory, circulatory, digestive, and urogenital systems. In familial dysautonomia, the autonomic nervous system does not fully develop. Characteristic symptoms of familial dysautonomia include inappropriate perception of heat, pain and taste, labile blood pressures, gastrointestinal dysmotility, dysphagia, vomiting, hypotonia, severe scoliosis, and cardiac dysrhythmias. Impaired respiratory function frequently leads to dependence on mechanical ventilation.

Airway clearance indications associated with familial dysautonomia include:

• Restrictive lung disease: In conditions where respiratory muscles are weak and the spine and thorax are deformed, the ability to take a big breath, to generate expiratory force, and to cough effectively are typically affected.
• Hypotonia: Inadequate control of respiratory muscles due to denervation or hypotonia can impair the normal cough reflex and, as a result, interfere with the ability to clear aspirated material and pulmonary secretions from the airways.
• Dysphagia: Impaired swallowing can cause aspiration. Aspiration of salivary or gastric contents introduces bacteria into normally sterile airways, resulting in pulmonary infection.
• Gastroesophageal reflux: Gastrointestinal dysfunction is a common feature of familial dysautonomia, and gastroesophageal reflux (GER) with consequent aspiration of gastric contents is recognized as a major factor in respiratory pathology.
• Artificial airway: Local irritation associated with intubation or tracheostomy may result in excessive production of mucus. Mucus hypersecretion overburdens the mucociliary apparatus resulting in congestion and plugging of small and large airways with static mucus.
• Dependence on mechanical ventilation: Forced immobility as the result of ventilator dependence limits the use of exercise to maintain aerobic capacity, bellows function, and lung volume, thus increasing the risk of developing restrictive lung disease. The consequent inability to generate a large inspiratory or expiratory force or to cough effectively compromises mucociliary clearance and exposes patients to recurrent respiratory infection.
• Retained secretions: Stagnant pulmonary secretions provide a cultural medium for bacterial pathogens. Consequent infections produce still more mucus, initiating a vicious cycle of mucus obstruction, recurrent bouts with respiratory infection, bacterial colonization, progressive pulmonary compromise.

Aggressive bronchial hygiene, including daily Airway Clearance Therapy, is an essential component in the management of patients with pulmonary complications from familial dysautonomia. Conscientious attention to daily secretion clearance may prevent or minimize the pulmonary complications associated with this disorder

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Sources

Engstrom J, Martin JB. Disorders of the autonomic nervous system. In: Fauci AS, Braunwald E, Isselbacher KJ, eds. Harrison's Principles of Internal Medicine. 14^th Ed. New York: McGraw-Hill; 1998: 2372-2376.

Familial Dysautonomia. Publication of Dysautonomia Foundation. Available at: http://www.med.nyu.edu.fd/fdcenter.html. Accessed April 2000.

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