Table of contents:
- Main symptoms
- How to confirm the diagnosis
- What causes fatal familial insomnia
- Is fatal familial insomnia curable?
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 primarily responsible for controlling the body's sleep-wake cycle. The first symptoms tend to appear between the ages of 32 and 62, but are more frequent after the age of 50.
Thus, people with this type of disorder have more and more difficulty sleeping, 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, which can reach a moment when the disease no longer allows life, and is therefore known as fatal.
The most characteristic symptom of IFF is the onset of chronic insomnia that comes on suddenly and gets worse 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 get too high or too low;
- Excessive sweating or salivation.
As the disease progresses, it is common for a person with FFI to experience uncoordinated movements, hallucinations, confusion, and muscle spasms. The complete absence of the ability to sleep usually only appears in the most final phase of the disease.
How to confirm the diagnosis
The diagnosis of fatal familial insomnia is usually suspected by the doctor after evaluating the symptoms and screening for diseases that may be causing the symptoms.When this happens, it is common for there to be a referral 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 alteration of the thalamus.
In addition, there are even genetic tests that can be done to confirm the diagnosis, as the disease is caused by a gene that is passed down within the same family.
What causes fatal familial insomnia
In most cases, fatal familial insomnia is inherited from one parent, as its causative gene has a 50% chance of being passed from parent to child, however, it is also possible for the disease to arise in people without a family history of the disease, since a mutation in the replication of this gene may occur.
Is fatal familial insomnia curable?
Currently, there is still no cure for fatal familial insomnia, nor is an effective treatment known to delay its progression.However, new studies have been carried out in animals since 2016 to try to find a substance capable of reducing the rate of development of the disease.
People with FFI 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.