Fatal familial insomnia

Q: 58 years old Italian male is admitted to ICU from the ER due to symptoms of visual hallucinations, aggression, ataxia, myoclonus, and dysautonomia. While talking, his voice appears husky. The family reports progressive insomnia,  cognitive and memory deficits, as well as weight loss over the last 12 months. Subsequent workup from neurology service led to the diagnosis of autosomal FATAL FAMILIAL INSOMNIA. The family wants to know what other members should do besides genetic testing to avoid these symptoms?

Answer: Consider Doxycycline 

Fatal familial insomnia is an autosomal disease first reported in Italian families. It manifests in the fifth decade with symptoms of progressive insomnia and dream-like confusion state during waking hours; it is fatal and progresses rapidly, accompanied by neuropsychiatric symptoms. Motor disturbances such as myoclonus, ataxia, parkinsonism, and spasticity can also occur. Dysautonomia may lead to hyperhidrosis, hyperthermia, tachycardia, obstipation, and hypertension. Endocrine disturbances are also common. Diagnosis is via genetic testing. 

As the name suggests it is fatal and progresses rapidly with a mean duration of 13 months. Treatment is only supportive though agomelatine has been used.

Interestingly, doxycycline may provide some prophylaxis to humans with FFI mutation carriers.

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References:

1. Krasnianski A, Bartl M, Sanchez Juan PJ, et al. Fatal familial insomnia: Clinical features and early identification. Ann Neurol 2008; 63:658.

2. Pedroso JL, Pinto WB, Souza PV, et al. Complex movement disorders in fatal familial insomnia: a clinical and genetic discussion. Neurology 2013; 81:1098.

3. Froböse T, Slawik H, Schreiner R, et al. Agomelatine improves sleep in a patient with fatal familial insomnia. Pharmacopsychiatry 2012; 45:34.

4. Forloni G, Tettamanti M, Lucca U, et al. Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases. Prion 2015; 9:75.