Nausea and dysautonomic crises severely limit function and quality of life for a large number of individuals with familial dysautonomia. We treated a small cohort of 15 patients with familial dysautonomia who suffered frequent dysautonomic crises with pregabalin. Nausea and overt crises markedly decreased in 13 (87%) of these patients and the overall assessments of benefit were extremely favorable, suggesting that pregabalin may be a potentially useful therapeutic agent for this disorder.
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CME
Copyright © 2009 by the American Academy of Pediatrics
2009
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Prevention of Dysautonomic Crisis
I have been involved, as primary care physician, with several FD patients. While their lives remain complicated, the children seem to rarely suffer the symptoms of nausea and dysautonomic crisis.
The article states: “These preliminary data demonstrate that pregabalin, a central acting agent, may be effective treatment to prevent or ameliorate the symptoms of dystautonomic crisis. To date, therapies have all been oriented toward treatment of the acute episode” . . . .
Based on research referenced below, the FD patients we see take tocotrienols, epigallocatechin gallate (EGCG), and caffeine (because of their ability to increase the production of the functional gene product, IKAP, from the mutated gene that causes FD). The patients are counseled to avoid foods and medications that are contra-indicated for individuals with low monoamine oxidase levels. The medications and the practices to which they adhere, with little or no known toxicity, appear to be improving bodily functions that are dependent on functional IKAP (e.g., coordination of swallow, tear production, pain sensation, among others) while substantially reducing the occurrence of nausea and dysautonomic crisis.
We all hope that research will bring us closer to a cure. It is encouraging when research findings bring us closer to the source of the illness with the least amount of side effects.
Anderson SL, Qiu J, Rubin BY. Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia. Biochem Biophys Res Commun. 2003; 306:303-9.
Anderson SL, Qiu J, Rubin BY. EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia. Biochem Biophys Res Commun. 2003; 310:627-33.
Anderson SL, Rubin BY. Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia. Biochem Biophys Res Commun. 2005; 336:150-6.
Rubin BY, Anderson SL. The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies. Neuromolecular Med. 2008;10:148-56
Rubin BY, Anderson SL, Kapás L. Can the therapeutic efficacy of tocotrienols in neurodegenerative familial dysautonomia patients be measured clinically? Antioxid Redox Signal. 2008;10:837-41.
Conflict of Interest:
None declared