The cause of death is not the absence of sleep, as such, but the total depletion of the body, its weakening, the adherence of concomitant infection and mental disorders. Pathology at this stage of development of medicine can not be cured.
History of the discovery of the disease
Until recently, fatal familial insomnia, as a disease was unknown - it was in 1979 discovered by an Italian doctor SS.Reuter. Before that, two years earlier, one of his relatives along the line of his wife complained of poor health and insomnia - they could not help her, and a year later she passed away. Preliminary diagnosis is depression.
After a certain period of time, similar symptoms began to manifest in the sister of a deceased relative, a year later she also died. Reuter saw this as a certain pattern and engaged in the study of the problem - he revealed a hereditary relationship in pathology, and his very assumption was confirmed when his wife's uncle fell ill.
In medical practice, fatal insomnia is rare. At the moment there are only 40 families registered in the world who are susceptible to the disease, most often it affects patients of the age group of 30-60 years old, can last from six months to 50 months.
The presented disease is not amenable to treatment - physicians are only able to alleviate the patient's condition a little.
Pathogenesis and causes of
The very cause of pathology was established not so long ago, in the late 90s of the last century, and it lies in the mutation of the gene PRNP, which is located in the chromosomal chain in the 20 chromosome. The defect itself, the genetic change affects the 178 codon - it is a synthesis of aspartic acid, which changes its structure to prions.
Prions are infectious theology agents, proteins that have a tertiary structure and are marked by high activity, they are also capable of changing the structure and shape of the surrounding healthy proteins.
Fatal family insomnia leads to transformations in the structure of healthy thalamus tissues - the CNS department, which is responsible for the entire sleep mechanism. Under the influence of prion, the nucleus of the thalamus changes its structure and resembles a sponge in structure, stopping normal functioning. In addition, the body is forming amyloid plaques - a plaque in its structure resembling a wax formed on the cells of the brain.
It is this department of the brain - the thalamus that is responsible for the dream, which acts as a communicator connecting the hemisphere cortex and the body that passes the signal in each direction.
In the process of development of fatal insomnia, this connection is disrupted, as is the circadian rhythm, which directly affects blood flow and pressure, the hormonal rhythm and frequency of contractions of the heart, body temperature. As a consequence, sleep disturbance develops, until the development of coma and the subsequent death.
The disease progresses in an autoimmune, dominant type - if a father or mother, grandmother and grandfather have a disease diagnosed, it will be transmitted to the descendants with a probability of 50%.Belonging to a man or a woman does not affect the development of the disease - it affects both sexes equally.
From stage to stage, from insomnia to death
In its development, fatal familial insomnia passes through several stages that correspond to certain symptoms:
- The first stage of is marked by progressive insomnia. At this stage, lack of sleep is the main sign of pathology, when the patient is unable to fall asleep. The lack of sleep affects his general condition, when more than one sleeping pill does not help - irritability and increased sweating, hypertension and increased respiratory rate, causeless bouts of fever. This stage lasts about 4 months on average.
- The second stage of - this period of the disease lasts for about 5 months, during which the patient shows
increased anxiety and unreasonable anxiety, hallucinations and excessive sweating, fears, up to panic disorders. Also manifested themselves and physical disorders - involuntary nerve convulsions and movements, twitching of this or that part of the body, the gait becomes unstable. - The third stage of lasts an average of 3 months - the patient has complete insomnia, such people become unrestrained and nervous, aggression manifests itself. A person begins to lose weight rapidly, a prolonged absence of sleep leads to exhaustion and weakening of the body. The behavior is uncontrollable, muscle weakness manifests itself.
- Fourth stage of - at this stage of the development of the disease, dementia manifests itself, proceeding against a background of complete absence of sleep, a person completely loses connection with the outside world, without reacting to irritants, an infection can join. This stage lasts about six months and the patient dies from simple exhaustion or complications affecting the heart or lungs.
What modern medicine can offer
Since fatal familial insomnia has been discovered recently and is fundamentally a genetic disease - methods and methods of treatment or effective drugs at the moment does not exist. Genetic research is conducted in this direction, doctors and scientists are studying the nature of the disease, possible remedies, but so far without result.
The only thing that doctors advise is to hope that the gene does not manifest itself, and before the marriage get a genetic diagnosis, so that the disease does not manifest itself in the child.
Relatives are advised to be attentive and patient to the patient, giving him maximum attention - the patient should not remain on himself with his problem. In a difficult situation, psychologists and psychiatrists will help, for religious people on a psychological level will bring some relief to visiting the temple and the priest.
Of course, it is important for a believing person to pay attention to the church, the priest, with whom conversations are conducted, to reconsider their perceptions of the world, gradually accepting a quick death.
Medication is aimed at alleviating the patient's condition and relieving symptoms. This is a course of vitamins and pain medications, sedatives.
Psychological help consists in correcting the manifestation of anxiety and reducing attacks of panic attacks, feelings of fear and guilt. In this case, the course of psychotherapy is recommended for both the patient and his immediate environment.
The prognosis for a patient who is diagnosed with a fatal family insomnia is disappointing and very unfavorable. According to statistics, a year or four later, after the first unfavorable symptoms have manifested themselves, a fatal outcome occurs.
The reason in this case is a simple depletion of the body and attachment against a weakened immunity of infection, all this is accompanied by mental disorders of the person.
