Abstract
Familial dysautonomia (FD), also known as Riley–Day syndrome or hereditary sensory and autonomic neuropathy type III, is an autosomal recessive disease caused by mutations in the gene that encodes for I-κ-B kinase complex associated protein (IKAP). Typically, affected patients present at birth with hypotonia, episodic skin blotching and irritability. Infants do not respond to pain or cold stimuli. Oral incoordination and abnormal swallowing reflexes lead to feeding difficulties and recurrent bouts of aspiration pneumonia. Blood pressure instability occurs in all patients from birth. Cortical arousal results in hypertension and tachycardia. Patients with FD have blunted baroreceptor afferents and, as a consequence, their blood pressure is extremely labile. Although reduced in number, efferent sympathetic nerves are functional. Supine plasma norepinephrine levels are normal in FD. Stimuli that activate efferent sympathetic neurons, independently of baroreceptor afferent pathways, such as cognitive tasks and emotional arousal, dramatically increase blood pressure, heart rate and circulating norepinephrine levels. Pharmacologic treatment of the labile blood pressure in patients with FD is complex and frequently unsuccessful, because drugs that increase standing blood pressure worsen hypertension and drugs that lower blood pressure may worsen orthostatic hypotension.
Published Version
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