Family fatal insomnia: what is it?

Family fatal insomnia (insomnia) is a very rare hereditary disease of the nervous system, which simultaneously belongs to the group of prion diseases. The main symptom of the disease is the lack of sleep in a person, which leads to the exhaustion of the body. The disease is fatal and, to date, incurable. There are 40 families in the world who are prone to family fatal insomnia. From this article you will get basic information about this disease.

It is likely that family fatal insomnia has existed for many years and even centuries. Descriptions of strange human states, along with the inability to fall asleep, are known to the history of medicine. Such people were considered mentally ill and placed in appropriate instances, where they died in agony. In 1967, a novel by Colombian writer Gabriel Garcia Marquez "One Hundred Years of Solitude" was published, which, among other things, describes the so-called "insanity of insomnia which amazed the family. And it was only in the 70s of the last century that an Italian physician managed to describe the manifestations disease and establish a hereditary character, tracing it in several generations of relatives his wife.

Cause of disease

In 1977, the Italian physician Ignazio Reuter observed his wife's aunt, who complained about the inability to fall asleep. Her condition progressively worsened, and a year later she died. After a short period of time, the sister of this woman begins to complain of such symptoms, and after a year repeats her fate and dies. Having rummaged through the archives of the psychiatric hospital, Dr. Reuter finds information about the illness of the grandfather of the deceased sisters. It turns out that he suffered from similar symptoms and also died quickly. From all this, the doctor makes a conclusion about the hereditary nature of the disease. But this had yet to be proved. And now the case introduced itself. In 1984 his wife's uncle became ill. The course of the disease this time was carefully documented, and after death the brain of the patient was scrupulously examined. And the reason for such a strange lack of sleep was found: a gene mutation.

In the 178th codon of the gene located in the 20th chromosome and responsible for the synthesis of the prion protein in the human body, as a result of the mutation, asparagine is replaced with aspartic acid. This leads to a change in the shape of the normal prion protein, its accumulation in certain structures of the brain, in particular, to the formation of amyloid plaques from it in the thalamus. It is the amyloid plaques that cause sleep-wake cycle disturbances.

It is known that the resulting mutation is transmitted to subsequent generations by an autosomal dominant type. This means that the disease affects both sexes equally, and if there is at least one pathological gene, it will manifest itself. The risk of transmitting a pathological gene to offspring is 50%.

In total, for today, 40 families with family fatal insomnia have been described on Earth. They are Italian and Italo-American families. Theoretically, the possibility of spontaneous occurrence of a mutation in any human being is considered, but so far this has not been confirmed.

The name of the disease clearly reflects its cause, essence and prognosis: "family" means transfer by inheritance, "fatal" - death, "insomnia" - lack of sleep.

Symptoms

A prolonged period of insomnia depletes patients and leads to the development of depression and panic attacks.

Family fatal insomnia can manifest itself at any age: from 25 to 70 years. More often the first symptoms appear about 50 years. The duration of the disease from the time of onset to the fatal outcome ranges from 6 to 48 months. The disease inevitably ends with the death of the patient, since no human body can exist for such a long time without sleep.

In the course of the disease, several stages are distinguished:

• the stage of incessant insomnia: lack of sleep becomes the first and the main sign of the disease. Patients want to sleep, but can not. The lack of sleep has a significant impact on well-being. No hypnotics help. In addition, there are neurological disorders in the vegetative sphere: sweating and salivation, constipation appears, heart rate increases and blood pressure rises, increases breathing rate. Periodic attacks of unmotivated increase in body temperature are possible. On average, the duration of this stage is about 4 months;
• the emergence of panic attacks and hallucinations against the backdrop of a continuing lack of sleep. The brain can not stand continuous work without rest, and malfunctions begin in its activity. The patient has fears, anxiety, anxiety, which periodically reach a level of panic attacks. There are motor disorders in the form of involuntary movements, twitching of individual parts of the body, instability when walking. The average life of this stage is about 5 months;
• complete absence of sleep accompanied by weight loss. Such a long absence of adequate rest for the organism turns into exhaustion. The sick grow old before our eyes, which is called by leaps and bounds. Behavior becomes uncontrollable. Characterized by a sharp muscle weakness. This stage lasts about 3 months;
• the development of dementia, the loss of the ability to respond to the outside world. Patients stop walking, eating. They no longer live, but exist. Intercurrent infections become attached. This stage lasts about 6 months, after which death occurs.

Treatment

Family fatal insomnia is an incurable disease. None of the currently offered methods of treatment is effective.

It is assumed that the success of genetic engineering will be able to help such patients, but so far, only theoretical developments.

Thus, you could learn that family fatal insomnia is a very rare disease that occurs in 40 Italian and Italian-American families with a hereditary transmission mechanism. The prolonged absence of sleep in this disease causes death. There is currently no effective method of treatment.

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