• Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Cristina Fuente-Mora, Leila Percival, Carlos Mendoza-Santiesteban, and Horacio Kaufmann.
• New York University School of Medicine, Dysautonomia Center, Department of Neurology , 530 First Avenue, Suite 9Q New York, NY 10016 , USA +1 212 263 7225 ; Horacio.Kaufmann@nyumc.org.
• Expert Opin Pharmacother. 2014 Dec 1;15(18):2653-71.

IntroductionFamilial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (type III). The disease is caused by a point mutation in the IKBKAP gene that affects the splicing of the elongator-1 protein (ELP-1) (also known as IKAP). Patients have dramatic blood pressure instability due to baroreflex failure, chronic kidney disease, and impaired swallowing leading to recurrent aspiration pneumonia, which results in chronic lung disease. Diminished pain and temperature perception result in neuropathic joints and thermal injuries. Impaired proprioception leads to gait ataxia. Optic neuropathy and corneal opacities lead to progressive visual loss.Areas CoveredThis article reviews current therapeutic strategies for the symptomatic treatment of FD, as well as the potential of new gene-modifying agents.Expert OpinionTherapeutic focus on FD is centered on reducing the catecholamine surges caused by baroreflex failure. Managing neurogenic dysphagia with effective protection of the airway passages and prompt treatment of aspiration pneumonias is necessary to prevent respiratory failure. Sedative medications should be used cautiously due to the risk of respiratory depression. Non-invasive ventilation during sleep effectively manages apneas and prevents hypercapnia. Clinical trials of compounds that increase levels of IKAP (ELP-1) are underway and will determine whether they can reverse or slow disease progression.

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