Fatal familial insomnia: symptoms and causes

September 22, 2020 5 mins read
Fatal familial insomnia: symptoms and causes

Fatal familial insomnia (FFI) is a genetic disorder that makes it difficult to fall and stay asleep at night. It’s incredibly rare, affecting a very small number of people around the world – this may even be the first time you have heard of it.

Sadly, as its name suggests, it is fatal.

If you have insomnia and you’re reading this (even if you’re suffering from chronic sleeplessness), don’t jump to conclusions or assume the worst-case scenario. Unless you have a family history of fatal familial insomnia, your doctor will more than likely rule it out as a cause.

What is fatal familial insomnia?

Typically, insomnia is caused by lifestyle factors, such as stress and a poor diet, and can be treated with stress-relieving techniques, diet and lifestyle changes, or natural remedies.

Fatal familial disorder is different, in that it is a rare genetic disorder and a form of prion disease. It’s neurodegenerative, meaning that certain parts of the brain get broken down. The condition can quickly decrease your overall quality of life once symptoms start to appear, eventually leading to a possible coma and death.

The disorder is caused by a mutation in the cellular prion protein (PrP), which is triggered by the PRNP gene. It’s genetic. But even if you don’t have the gene, you can suffer from a similar disorder – sporadic fatal familial insomnia.

How is sporadic fatal familial insomnia different?

Sporadic fatal familial insomnia is also a rare form of prion disease. It is even rarer than FFI, but very similar symptoms characterise it.
Symptoms of sporadic fatal familial insomnia are often mistaken for signs of minor and fluctuating diplopia (double vision).

If you have been diagnosed with diplopia, it is crucial that you get a second and even third opinion to make sure that you have not been misdiagnosed.

What are the causes?

Scientists are still learning about this condition, but what they have discovered is that FFI occurs in most cases when there is an abnormal variant of the prion-related protein (PRPN) gene. This leads to abnormally shaped prion proteins, which are toxic to the body.

Prion diseases cause the loss of nerve cells in parts of the brain. In this case, FFI affects the thalamus. The loss of nerve cells in this part of the brain can interfere with the body’s ability to fall (and stay) asleep and can lead to brain damage and dementia.

What are the symptoms of FFI?

It can take years before you start to experience any symptoms, which might begin with mild insomnia, which becomes worse over time.

If you have FFI, your body will struggle to prepare for sleep. Instead of your heart rate lowering before going to bed, it will stay elevated. You will not produce enough melatonin to promote quality sleep, and cortisol levels will also remain high, which can make you wake up and feel alert.

The lack of sleep can cause the deterioration of the mind and body and can trigger other symptoms, such as:

  • Sweating randomly and excessively
  • Having a fever
  • High blood pressure
  • Elevated heart rate
  • Unexplained weight loss and a loss of appetite
  • Difficulty regulating body temperature
  • Experiencing memory problems
  • Struggling to focus and think
  • Having speech problems
  • Getting muscle spasms while sleeping
  • Problems with your vision
  • Vivid dreams

Over time, you might only manage to get in a couple of hours of sleep a night or struggle to sleep at all. Your body will not be able to perform functions that are necessary during sleep, such as producing the human growth hormone and processing information in the brain. When your symptoms become severe, you can slip into a coma and pass away.

Do I have fatal familial insomnia?

For a doctor to diagnose you with sporadic fatal familial insomnia or the genetic variant, you need to undergo a sleep study and possibly have a PET scan. The scan will be able to indicate if your thalamus is underactive. During the sleep study, doctors will examine your brain activity during sleep (if sleep occurs). They can also measure what is happening in your brain while you are struggling to fall asleep. A sleep study will also be able to show if there are other possible causes of your insomnia, such as sleep apnea.

Is FFI curable?

Sadly, there is no cure for FFI or sporadic fatal familial insomnia. There is also currently no known way to slow down the progression of your symptoms. The best that you can do is adjust your lifestyle and use sleep aids to provide temporary relief. Your doctor’s main goal with treatment will be to make you as comfortable as possible and to ease your symptoms.

Living with FFI

Fatal familial insomnia can have a tremendous impact on your life. The disorder affects not only the way that you feel physically, but also your ability to focus, work, and be social. If you have been diagnosed with FFI or sporadic fatal familial insomnia and have been struggling to sleep at night, your doctor can prescribe medications to help you sleep.

Improving your sleep quality should be a priority. Some of the things that you can do include practising meditation and yoga, increasing your sunlight exposure during the day, and decreasing your blue light exposure from digital screens at night.

Taking steps to improve your sleep hygiene and habits now may help you in the future if symptoms do start to present themselves.