Fatal Familial Insomnia or Fatal Familial Insomnia – also known as FFI – is an inherited disorder. The FFI (from the English for “fatal familial insomnia”) belongs to the so-called prion diseases and is characterized by severe sleep disorders and insomnia. Fatal familial insomnia often occurs between the ages of 20 and 70. Although the disease is very rare, fatal familial insomnia always leads to death as it progresses.
What is fatal familial insomnia?
The hereditary disease begins with problems falling asleep, which become more frequent and more intense. The patient suffers from increasing tiredness and daytime sleepiness. See AbbreviationFinder for abbreviations related to FFI.
Fatal familial insomnia is an inherited disorder in which altered prions (proteins) attack the sufferer’s brain, gradually destroying it, breaking down the brain into a structure like a porous sponge.
This condition is also known as spongiform encephalopathy. Fatal familial insomnia (FFI) is based on a genetic defect and causes severe, chronic sleep disorders, which usually result in insomnia (insomnia). Due to the massive brain damage, the patient’s mental performance and important bodily functions of the autonomic nervous system, such as the regulation of blood pressure and heart rate, are reduced.
The disease was first described in 1986 and has so far been considered incurable. In addition to fatal familial insomnia, the group of prion diseases also includes Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker syndrome.
Causes
The cause of fatal familial insomnia is found in the genes. Those affected have a genetic defect that has been inherited from at least one parent. The altered gene is known as a prion protein. The prion protein serves as a template for the formation of new prions (proteins).
If the gene prion protein is degenerate, altered and thus defective prions are also formed during regeneration. In fatal familial insomnia, the faulty proteins damage the nerve cells in the brain, but despite intensive research, it is still not known how the prions attack and destroy the nerve cells.
Some hereditary diseases often skip a generation. In the case of fatal familial insomnia, all those affected fall ill whose parents or one parent have this genetic defect. Because of this, fatal familial insomnia is also referred to as an autosomal dominant hereditary disease.
Symptoms, Ailments & Signs
Fatal familial insomnia (FFI) is characterized by a variety of neurological symptoms. The first symptoms usually appear in middle age after the age of 50. Within a short time, the symptoms intensify and eventually lead to death. The hereditary disease begins with problems falling asleep, which become more frequent and more intense. The patient suffers from increasing tiredness and daytime sleepiness.
The sleep phases become ever shorter and rarer until the affected patient is no longer able to fall asleep. In addition, there are increasing cardiac arrhythmias, blood pressure fluctuations and constant changes in body temperature. The sleep-wake cycle is completely disrupted. Furthermore, the patients also suffer from increasing coordination disorders of the movements. There are also involuntary muscle twitches.
These are jerky twitches of the muscles of the trunk and extremities, which can be both rhythmic and arrhythmic. In a later stage of the disease, so-called oneiroid conditions are also observed. The patient is in a dreamlike state in which it is no longer possible to distinguish between dream and reality.
Due to the increasing sleep deficit, attention disorders, forgetfulness and a decrease in cognitive abilities occur. The personality changes progress to dementia. Some patients die suddenly. Other sufferers suffer a loss of consciousness and fall into a coma from which they no longer wake up. Death usually occurs from pneumonia or another serious infection.
Diagnosis & History
The neurologist diagnoses fatal familial insomnia (FFI). At first, sufferers often complain of insomnia. Disturbed regulation of body temperature, heart rate and blood pressure can be demonstrated in all those affected.
Dementia (reduced mental ability), hallucinations and personality changes are other indicators of the hereditary disease. The method of choice for diagnosis is a genetic test, with the help of which the gene change can be detected. To determine the extent of the damage to the brain, a so-called PET (positron emission tomography) is performed.
The course of fatal familial insomnia is individual and varies from person to person. Since the disease occurs between the ages of 20 and 70, a fixed point in time cannot yet be determined. However, studies show that it occurs more frequently in people between the ages of 50 and 60. The general course is characterized by a disturbed sleep-wake cycle, which over time leads to chronic insomnia.
Damage to the brain causes changes in the autonomic nervous system. When the first symptoms of fatal familial insomnia appear, the sufferers usually only live a few months. Current studies show that the majority of patients suffering from fatal familial insomnia die within one to one and a half years.
Complications
This disease leads to various ailments that can have a very negative impact on the quality of life of the patient. Those affected primarily suffer from severe sleep disorders, which can lead to irritability due to the lack of sleep. It also leads to increased blood pressure and an increased heart rate.
It is not uncommon for the disease to lead to sudden cardiac death in the patient. Concentration and coordination disorders also occur, making the patient’s everyday life significantly more difficult. Even normal body movements are usually no longer easily possible for those affected and involuntary muscle twitching occurs.
The disorder may be accompanied by hallucinations and memory lapses. In some cases, those affected are dependent on the help of other people in their everyday life and can no longer carry out normal activities on their own. Unfortunately, this disease cannot be treated specifically.
It is usually fatal. The symptoms can be reduced with the help of therapies and medication. However, a completely positive course of the disease does not occur. It is not uncommon for the patient’s relatives to suffer from mental illness or depression and also need treatment.
When should you go to the doctor?
If the typical symptoms and signs of fatal familial insomnia appear, this is already a reason for a doctor’s visit. The characteristic sleep disorders lead relatively quickly to physical and mental deficits, which is why rapid diagnosis and treatment are necessary. At the latest when movement disorders, muscle twitching or speech disorders are added to the symptoms mentioned, the parents must consult the pediatrician. Hallucinations and personality changes are other warning signs that are best checked out right away.
If the symptoms appear in adulthood, those affected should inform their family doctor. The diagnosis is often made in childhood, many years before the first symptoms appear. However, those affected can take early measures to delay the onset of the disease. The disease itself cannot be treated. Those affected should still consult a doctor and have the symptoms treated. Depending on the symptoms, an orthopaedist, speech therapist, psychotherapist and physiotherapist can be consulted in addition to the general practitioner. Genetic counseling and early detection take place in a specialist center for hereditary diseases.
Treatment & Therapy
Fatal familial insomnia cannot be cured and is fatal within one to two years of onset. The treatment is aimed at relieving acute symptoms.
Medication is used to try to stop the progression of the symptoms for as long as possible. The movement stiffness as well as the muscle twitching are currently being treated with drugs for both rheumatoid arthritis and Parkinson ‘s disease.
So-called neuroleptics, antidepressants and beta- blockers are also used in fatal familial insomnia. Since physical complaints also occur, physiotherapy can be used to try to maintain mobility. An important point is also adequate psychological care in fatal familial insomnia.
Prevention
There are currently no preventive measures against fatal familial insomnia. Since the disease is based on a genetic defect, the parents pass this predisposition on to their offspring, so that they also develop fatal familial insomnia (FFI).
Aftercare
Since fatal familial insomnia cannot be cured, no special aftercare measures are possible. This is therefore limited to alleviating the acute symptoms in order to make the everyday life of those affected as bearable as possible. Those affected are in regular contact with the treating doctor in order to constantly monitor the consistent intake of the medication and the correct dosage.
An important point in the follow-up of fatal familial insomnia is adequate psychological care. Since the disease progresses quite quickly in most cases and sufferers deteriorate rapidly, it can help relatives to seek mental support in order to be able to cope with the process better.
You can do that yourself
There is currently no known curative treatment for fatal familial insomnia (FFI). In everyday life, it is only possible to alleviate the symptoms of the disease with drug treatment. However, this does not slow down the course of fatal familial insomnia.
Patients should follow doctors’ recommendations to combat typical muscle twitching and joint stiffness. This means that they must take the prescribed medicines regularly. This reduces susceptibility to inflammation. In addition to physical discomfort, pain can also be alleviated by following the doctor’s prescriptions. The same applies to the neurological problems that are treated. Taking the prescribed neuroleptics reduces the hallucinations associated with the disease.
Especially in the first phase of the disease, it is important to follow all medical advice. Initially, this therapy can achieve good results and reduce physical and psychological problems. However, the patients must reckon with a diminishing effect of the treatment measures later on. Over time, it becomes more difficult to make everyday life easier and to come to terms with fatal familial insomnia.
