- Main symptoms
- How to confirm the diagnosis
- What causes fatal family 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 and wake cycle.
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 sweating, 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 may arrive at a time when the disease it no longer allows life and is therefore known as fatal.
Main symptoms
The most characteristic symptom of IFF is the onset of chronic insomnia that appears suddenly and worsens over time, until it causes physical and mental deterioration that results in coma and even death.
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 may become too high or low; Excessive sweating or salivation.
As the disease progresses, it is common for the person suffering from FFI to experience uncoordinated movements, hallucinations, confusion and muscle spasms. The complete absence of the ability to sleep, however, usually appears only in the most final stage of the disease.
How to confirm the diagnosis
The diagnosis of fatal familial insomnia is usually suspected by the doctor after assessing 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 do other tests such as a sleep study and a CT scan, for example, to confirm the change in the thalamus.
In addition, there are still genetic tests that can be done to confirm the diagnosis, since the disease is caused by a gene that is transmitted within the same family.
What causes fatal family insomnia
In most cases, fatal family insomnia is inherited from one parent, as its causative gene has a 50% chance of passing from parents to children, however, it is also possible that the disease will arise in people without a family history of 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 evolution. However, new studies have been carried out on animals since 2016 to try to find a substance capable of slowing the development of the disease.
People with IFF can, however, make 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 have treatment guided by a doctor who specializes in sleep disorders.
