Fatal Insomnia

Alternative Treatment Efficacy According to GRADE* Ranking:

Biofeedback:

Recommendation: no recommendation (there is insufficient evidence to show that Biofeedback helps treat insomnia)

Grade of Evidence: very low quality of evidence

Meditation:

Recommendation: strongly in favor  (research has shown that meditation can help to treat insomnia)

Grade of Evidence: moderate quality of evidence

* www.gradeworkinggroup.org

Fatal familial insomnia

Fatal familial insomnia (FFI) is a very rare autosomal dominant inherited prion disease of the brain. The dominant gene responsible has been found in just 28 families worldwide; if only one parent has the gene, the offspring have a 50% chance of inheriting it and developing the disease. The disease's genesis and the patient's progression into complete sleeplessness is untreatable, and ultimately fatal.

Pathophysiology

PrP^sc has autocatalytic properties that cause normally soluble PrP to be converted into the PrP^sc form upon interaction.

This conversion into insoluble protein causes plaques containing aggregates of PrP^sc to develop in the thalamus, a region of the brain responsible for regulation of sleep. This first results in insomnia, and then progresses to more serious problems over time.

Presentation

The age of onset is variable, ranging from 30 to 60, with an average of 50. However the disease tends to prominently occur in later years, primarily following childbirth. Death usually occurs between 7 to 36 months from onset. The presentation of the disease varies considerably from person to person, even among patients from within the same family.

The disease has four stages, taking 7 to 18 months to run its course:

1. The patient suffers increasing insomnia, resulting in panic attacks, paranoia, and phobias. This stage lasts for about four months.
2. Hallucinations and panic attacks become noticeable, continuing for about five months.
3. Complete inability to sleep is followed by rapid loss of weight. This lasts for about three months.
4. Dementia, where the patient becomes unresponsive or mute over the course of six months. This is the final progression of the disease, and the patient will subsequently die.

Treatment

There is no cure or treatment for FFI; hope rests on the so far unsuccessful gene therapy. Sleeping pills have no effect.

While it is not currently possible to reverse the underlying illness, there is some evidence that treatment modalities that focus upon the symptoms can improve quality of life.

Public Discussion