Fatal Familial Insomnia: what it is, symptoms and treatment

Fatal familial insomnia, also known by the acronym IFF, is an extremely rare genetic disease that affects a part of the brain known as the thalamus, which is mainly responsible for controlling the body’s sleep and wake cycle. The first symptoms tend to appear between the ages of 32 and 62, but are more common after the age of 50.

Therefore, people with this type of disorder find it increasingly difficult to sleep, in addition to other changes in the automatic nervous system, which is responsible for regulating body temperature, breathing and perspiration, for example.

This is a neurodegenerative disease, which means that, over time, there are fewer and fewer neurons in the thalamus, which leads to a progressive worsening of insomnia and all related symptoms, possibly reaching a point where the disease it no longer allows life, and is therefore known as fatal.

Main symptoms

The most characteristic symptom of IFF is the emergence of chronic insomnia that appears suddenly and worsens over time. Other symptoms that may arise associated with fatal familial insomnia include:

• Frequent panic attacks;
• Emergence of phobias that did not exist;
• Weight loss for no apparent reason;
• Changes in body temperature, which can be very high or low;
• Excessive sweating or salivation.

As the disease progresses, it is common for people suffering from IFF to experience uncoordinated movements, hallucinations, confusion and muscle spasms. The complete absence of the ability to sleep generally only appears in the final phase of the disease.

How to confirm the diagnosis

The diagnosis of fatal familial insomnia is generally suspected by the doctor after evaluating the symptoms and screening for diseases that may be causing the symptoms. When this happens, it is common to be referred to a doctor specializing in sleep disorders, who will carry out other tests such as a sleep study and a CT scan, for example, to confirm the change in the thalamus.

Furthermore, there are also genetic tests that can be done to confirm the diagnosis, as the disease is caused by a gene that is transmitted within the same family.

What Causes Fatal Familial Insomnia

In most cases, fatal familial insomnia is inherited from one of the parents, as its causative gene has a 50% chance of passing from parents to children. However, it is also possible for the disease to appear in people without a family history of the condition. disease, as a mutation may occur in the replication of this gene.

Is there a cure for fatal familial insomnia?

There is currently no cure for fatal familial insomnia, nor is there any known effective treatment to delay its progression. However, new studies have been carried out on animals since 2016 to try to find a substance capable of reducing the speed at which the disease develops.

People with IFF can, however, undergo specific treatments for each of the symptoms presented, in order to try to improve their quality of life and comfort. For this, it is always best to undergo treatment guided by a doctor who specializes in sleep disorders.