Fatal Familial Insomnia: What It Is, Symptoms, and Remedies

Do you have problems with falling asleep and staying asleep? Well, the chances of it being caused by fatal familial insomnia is highly unlikely. In fact, this condition is so rare that the estimated odds are 1 in 1 million. That said, you might want to find out what triggers this condition and what to do if you find out that you are affected by it.

What is Fatal Familial Insomnia?

Fatal Familial Insomnia (FFI) is a very rare, genetic prion disease, or brain disorder, that is caused by a mutation of the prion protein (PRNP) gene.

When this mutation happens, it causes a decline in the thalamic nucleus, the region that is responsible for regulating sleep and other functions [1], [2].

One of the main characteristics is insomnia that starts mild but progressively worsens. As the disease progresses, affected individuals may also begin to experience further complications such as a dysfunction of the autonomic nervous system.

Cause of Fatal Familial Insomnia

As mentioned earlier, fatal familial insomnia (FFI) is caused by an autosomal dominant mutation in the PRNP gene. When there is a mutation of the gene, the protein product may turn inefficient or faulty.

In the case of the PRNP gene, it produces a protein called the prion protein. A mutation of this leads to an abnormal 3-dimensional shape that is described as “misfolded”. In FFI, the misfolded prion protein is found in the thalamus. The more that it accumulates, the more it will result in the progressive destruction of nerve cells [3].

What is the life expectancy of someone with fatal familial insomnia?

The life expectancy of someone with fatal familial insomnia (FFI) is between 7 to 73 months after the onset of symptoms. The average age of symptom onset is also around 40 years but can start anywhere from the late 20s to early 70s [4].

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Fatal Familial Insomnia Symptoms

Some of the symptoms of fatal familial insomnia (FFI) include [5]:

• Progressive difficulty sleeping, or progressive insomnia
• Progressive dementia
• Nervous system overactivity
• Cognitive decline ( e.g., memory loss, impaired thinking, and difficulty concentrating)
• Loss of coordination
• Involuntary muscle twitching or jerking
• Severe sleep disturbances
• Hallucinations
• Excessive sweating
• High blood pressure
• Rapid heart rate

How Is Fatal Familial Insomnia Diagnosed?

In order to diagnose an individual with fatal familial insomnia, tests of high diagnostic value will need to be conducted. These tests may include genetic analysis, a brain magnetic resonance imaging (MRI), electroencephalogram (EEG), polysomnography (PSG), positron emission tomography (PET), single-photon emission tomography (SPECT), biochemical cerebrospinal fluid (CSF) analysis, and autopsy [6].

Here’s also an additional breakdown of what these tests look out for:

• Genetic testing: Genetic tests analyzes whether there is a mutation at codon 178 of the PRNP gene that results in the D178N gene alteration.
• Brain MRI: Brain MRI can reveal if there are any nonspecific features, such as cerebral degeneration or enlarged ventricles.
• Electroencephalogram (EEG): EEG detects if any EEG activities occur as a result of the disease.
• Polysomnography (PSG): Polysomnography or sleep study can determine disease onset from the loss of sleep spindles, loss of total sleep time and along with any other abnormal sleep behaviors like hallucinations or vivid dreams.
• Positron emission tomography (PET): PET is used to detect hypometabolism in the thalamus and cingulate cortex for individuals with FFI.
• Single-photon emission tomography (SPECT): SPECT shows whether there is reduced blood flow perfusion, a key indicator of FFI.
• Biochemical cerebrospinal fluid (CSF) analysis: CSF biochemical test done could reveal normal or a mildly elevated protein concentration.
• Autopsy: Autopsy is normally conducted postmortem to reveal if there are severe thalamic neuronal loss and gliosis, which are characteristically seen in FFI patients.

Differential diagnosis is important to rule out other prion diseases, such as sporadic fatal insomnia and Creutzfeldt-Jakob disease.

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Can It Be Prevented?

Unfortunately, fatal familial insomnia (FFI) cannot be prevented as it is caused by a genetic mutation that can happen at any time, whether or not you have a past history of the condition.

How is Fatal Familial Insomnia Treated?

There is currently no cure for this disease. However, there are still treatment options available that focus on managing the symptoms.

These treatments could come in the form of taking clonazepam for muscle spasms, taking medications that can activate deep sleep, taking vitamins ( e.g., Vitamin B6, B12, iron, folic acid), psychosocial therapy or hospice care [5].

Conclusion

To sum up, FFI is a genetic and rare disease that results in progressive cognitive decline and progressive insomnia symptoms. As it has no cure and is not preventable, it requires a comprehensive and multidisciplinary approach to managing its symptoms.

As this disease presents itself with the symptom of insomnia, one solution that affected individuals may consider is the ShutEye® app. ShutEye® is a sleep tracking app that offers personalized insights to help individuals better cope with their insomnia. Try it today for FREE!

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