Fatal Familial Insomnia: Literally Dying To Sleep

Fatal familial insomnia (FFI), a rare neurodegenerative genetic disease, was discovered by Pierluigi Gambette. The condition is a serious sleep disorder and it can rapidly progress to death within a year or two. FFI belongs to a family of diseases call prion diseases, caused by infectious proteins. It is the third most common genetic prion disease in the world, but it’s rare and only 28 families have been impacted around the world.

What makes fatal familial insomnia unique in the world of biology is that dispelled the idea that people need to have a virus, parasite or bacterium in order to have an infectious disease. Nobel Prize winning neurobiologist and biochemist Stanley Prusiner championed the idea proteins were the actual infectious agent in some types of diseases.

Other diseases caused by prion protein destruction include Creuzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker syndrome. These diseases are progressive, destructive and deadly.

What Is Insomnia?

Insomnia is thought to be one of the most common of all sleep disorders. The condition is highlighted by the inability to fall asleep and to obtain enough sleep to feel rested. Insomnia may be characterized by the inability to fall asleep, as well as not being able to stay asleep. In order for it to be present, the above difficulties must be present despite a person having an adequate chance for sleep. The lack of sleep must also lead to problems with functioning during the daytime.

What Causes FFI?

Fatal familial insomnia is an extremely rare inherited autosomal dominant prion disease of the brain. The condition is almost always caused by a protein mutation, but there have been cases of spontaneous development. The disease has no known cure and it involves insomnia that grows progressively worse and the average survival after the onset of symptoms is 18-months.

Fatal Familial Insomnia Symptoms

The age of onset for FFI is variable and can range from 18 to 60 years of age with a median age of 50. The disease tends to happen in later years, primarily following giving birth to a baby. It is diagnosed and detected through genetic testing and death can happen anywhere from seven and 36 months following the onset of symptoms.

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FFI most typically starts when someone has problems falling asleep, a common symptom that happens with various types of insomnia. Within a period of several months, the condition becomes so severe a person is not able to fall to sleep at all. In addition to incurable insomnia, which develops over several months, there are other symptoms that make this condition different than typical insomnia.

What Is Dysautonomia?

All of the symptoms of FFI combined are referred to as “dysautonomia,” which means a person has an abnormality in the functioning of the autonomic nervous system. Therefore, the condition also causes high blood pressure, rapid heart rate along with excessive perspiration. Other signs could include difficulty while walking, muscle twitching, and tremors.

What Is The Mechanism Of Action For FFI?

People normally experience different stages during normal sleeping. Those with fatal familial insomnia will not be able to go past the first stage of sleep, hence the brain does not get the rest needed to revive itself. Most reviving and repairing of the brain and body take place during the deeper phases of sleep. Since someone with FFI isn’t able to reach a deep phase of sleeping the body becomes worn out each passing day and the condition causes coma and eventual death.

Fatal Familial Insomnia: Stages

FFI manifests itself in four different stages and each one is worse than the next and includes the following:

• Stage I: Sudden and unexplainable onset of insomnia that results in panic attacks and lasts for about four months.
• Stage II: As an individual becomes sleep deprived, the panic attacks become more severe and hallucinations begin. This stage can last for around four to five months.
• Stage III: The total insomnia results in a person rapidly losing weight and experiencing limited mental functioning, lasting for up to three months.
• Stage IV: In the last stage, a person will suffer from dementia and become unresponsive. The final stage can last for up to six months with the individual eventually slipping into a coma and dying.

Diagnostic Testing For FFI

If a person is suspected of having FFI, a doctor may order a sleep study to be performed. Typically, with fatal familial insomnia, a sleep study will demonstrate a lack of short wave sleep. Additionally, there would be a decreased amount of stage two, non REM-sleep. Lastly, there would be a dissociated REM sleep without a person losing muscle tone.

A routine electroencephalogram or EEG, will show something called “diffuse slowing,” while a routine brain image like a CT scan or MRI would reveal a normal brain structure. A PET scan will show the individual has a decrease in glucose metabolism in the thalamus and putamen areas of the brain. While doing cognitive tests, an individual would demonstrate poor attention, hallucinations, confusion and disorientation.

Treatment Options For FFI

Because FFI is a genetic disorder, there is a 50 percent change of a parent passing it along to their children. It’s been shown sleeping pills and barbiturates are not effective for FFI treatment. On the contrary, these medications may actually worsen the clinical manifestations and quicken the course of the disease.

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Unfortunately, there are no treatment options that will alleviate DDI symptoms. The course of this disease is unrelenting and as its name suggests, it is always ultimately fatal.