Fatal familial insomnia: a fatal sleeping sickness

Fatal familial insomnia (FFI) is a serious hereditary degenerative brain disease associated with insomnia. It usually only manifests itself after the age of 40. It starts with insomnia and panic attacks and will later progress to hallucinations, weight loss and total insomnia. The patient becomes demented and will eventually die. What exactly does this condition mean and can it be treated?

History

There is a known case of illness from the year 1765 in which a Venetian man died of what was most likely FFI. His descendants had similar symptoms that killed them. It was not until 1979 that this disease was first described by an Italian doctor who received two patients from the same family who had died of insomnia. In 1984, when another member of this family became ill, the clinical picture was closely monitored. In the late 1990s it became clear that this disease was caused by a mutation in a certain protein that causes abnormal development of protein molecules. The thalamus within the brain normally regulates sleep, and this is where plaques (deposits of proteins) are formed.

Hereditary disease

FFI is a rare degenerative hereditary brain disease. The gene responsible for the disease occurs in only 40 families worldwide. It is an autosomal dominantly inherited disorder. If one of the parents carries the gene, there is a 50% chance that the child will also inherit this gene and develop the disease. With this tragic disease, symptoms will only reveal themselves later in life, often at the age of 40, which means that the disease can be passed on without the parents being able to know because they themselves only become ill at a later age. This disease eventually causes the patient to fall into a state of complete insomnia and eventually die from it.

Clinical picture

The disease usually manifests itself between the ages of thirty and sixty, with the average being around fifty. It has symptoms similar to dementia, end-stage alcoholism and encephalitis. If the disease manifests, death will usually follow 7 to 36 months after the initial manifestation of the disease. The clinical picture differs per person, but it has 4 specific phases, which last between 7 and 18 months:

Phase 1

The patient suddenly suffers increasingly from insomnia complaints. This causes the patient to have panic attacks, hallucinations and phobias. This phase lasts approximately 4 months.

Phase 2

The hallucinations and panic attacks become increasingly serious. Due to extreme sleep deprivation, the patient will be able to dream while awake. The EEG (electroencephalogram) shows that the patient is in the dream phase of sleep (REM sleep), while he is normally awake. This period takes approximately 5 months.

Phase 3

In this phase the patient will suffer from complete insomnia. This is characterized by rapid weight loss and mental functioning is limited. This phase takes approximately 3 months.

Phase 4

In the fourth phase, which lasts about 6 months, the patient becomes demented and no longer responds to the environment. In this final stage, the patient will no longer be able to speak and will eventually die because he will fall into a coma due to total insomnia. The patient maintains awareness of what is happening to him while suffering from extreme exhaustion both physically and mentally.

Therapy

Unfortunately, this genetic sleeping sickness cannot yet be treated. There is hope that something can be done with gene therapy in the future, but this is still in its infancy. Doctors are working on experimental treatments. Regular sleep medication has no effect. It is possible through prenatal screening to determine whether the unborn child is a carrier of the gene.

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