Familial dysautonomia (Riley-Day syndrome)

Familial dysautonomia (FD) was described in 1949 by Riley et al. It is a disease almost exclusive to the Ashkenazi Jewish population, with an incidence of 1 case per 3,600 births.

It is a disease that follows an autosomal recessive mode of inheritance and is caused by mutations in the ELP1 gene also known as IKBKAP which codes for a protein that is expressed in all tissues and is involved in gene transcription.

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Patients with FD present with generalized somatosensory and autonomic deficits, caused by altered transmission of nociceptive, thermal, mechanical, chemical, metabolic and osmotic information from the body to the brain. They may also present gastrointestinal dysfunction, recurrent pneumonias, variations in blood pressure, postural hypotension and hypotonia.

Diagnosis is based on clinical recognition of both sensory and autonomic dysfunction. Characteristic criteria include alacrymia (no tears), lack of fungiform papillae on the tongue, depressed patellar reflexes and abnormal histamine testing.

Available pharmacological treatments are intended to alleviate the symptoms of patients with dysautonomia as no specific treatment is currently available.

People with FD require follow-up by a multidisciplinary team including neurologists, physiotherapists, cardiologists, nephrologists, ophthalmologists, and other professionals.

It is recommended that patients avoid hot and humid environments.