Lethal familial insomnia or Fatal familial insomnia – also called FFI – is an inherited disorder. 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, lethal familial insomnia always leads to death in its course.
What is lethal familial insomnia?
Lethal familial insomnia is a hereditary disease that uses altered prions (proteins) to attack the brain of the sufferer, gradually destroying it and breaking down the brain so that it resembles the structure of a sponge with holes. This condition is also known as spongiform encephalopathy. Lethal familial insomnia (FFI) is based on a genetic defect and causes severe, chronic sleep disorders, from which insomnia (sleeplessness) usually develops. Due to the massive brain damage, the mental performance as well as important bodily functions of the autonomic nervous system, such as the regulation of blood pressure and heart rate, are reduced in the affected person. The disease was first described in 1986 and is currently considered incurable. In addition to lethal familial insomnia, the group of prion diseases also includes Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome.
Causes
The cause of lethal familial insomnia is found in the genes. Affected individuals have a genetic defect that has been inherited from at least one parent. The altered gene is known as prion protein. The prion protein serves as a template in the formation of new prions (proteins). If the gene prion protein is degenerated, new prions are also formed that are altered and thus defective. In lethal familial insomnia, the defective proteins damage the nerve cells in the brain, but despite intensive research, it is not yet known how the prions attack and destroy the nerve cells. Some inherited diseases often skip a generation. In lethal familial insomnia, all affected persons whose parents or one parent have this genetic defect become ill. Because of this, lethal familial insomnia is also called an autosomal dominant inherited disorder.
Symptoms, complaints, and signs
Lethal familial insomnia (FFI) is characterized by a variety of neurologic symptoms. The first symptoms usually appear in middle age after the age of 50. Within a short time, symptoms intensify until death. The hereditary disease begins with difficulty falling asleep, which becomes more frequent and more intense. The patient suffers from increasing fatigue and daytime sleepiness. The sleep phases become increasingly shorter and less frequent until the affected patient can no longer fall asleep at all. In addition, there are increasing cardiac arrhythmias, blood pressure fluctuations and constant changes in body temperature. The sleep-wake rhythm is completely disturbed. Furthermore, patients also suffer from worsening coordination disorders of movements. In addition, there are involuntary muscle twitches. These are jerky twitches of the trunk and extremity muscles, which can be rhythmic or arrhythmic. In a later stage of the disease, so-called oneiroid states are also observed. The patient is in a dream-like 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. Personality changes progress to dementia. Some patients die suddenly. Others suffer a loss of consciousness and enter a waking coma from which they no longer awaken. Death then usually occurs from pneumonia or another serious infection.
Diagnosis and course
Lethal familial insomnia (FFI) is diagnosed by a neurologist. At onset, affected individuals often complain of insomnia. All affected individuals have evidence of impaired regulation of body temperature, heart rate, as well as blood pressure. Dementia (reduction in mental capacity), hallucinations and changes in personality are further indicators of the hereditary disease.The method of choice for diagnosis is a genetic test, which can be used to detect the genetic alteration. To determine the extent of the damage to the brain, a so-called PET (positron emission tomography) is performed. The course of lethal familial insomnia varies from person to person. Since the disease occurs between the 20th and 70th year of life, a fixed point in time cannot yet be determined. However, studies show a more frequent occurrence in persons between 50 and 60 years of age. The general course is characterized by a disturbed sleep-wake rhythm, which over time leads to chronic insomnia. Due to the damage in the brain, changes occur in the autonomic nervous system. When the first symptoms of lethal familial insomnia appear, the sufferers usually live only a few months. Current studies show that the majority of patients suffering from lethal familial insomnia, die within one to one and a half years.
Complications
This disease leads to various complaints that can have a very negative impact on the patient’s quality of life. First and foremost, those affected suffer from severe sleep disturbances, which can lead to irritability due to the lack of sleep. Likewise, there is increased blood pressure and also an increased heart rate. Not infrequently, the disease can thus also lead to sudden cardiac death of the patient. Likewise, disturbances in concentration and coordination occur, so that the patient’s everyday life is made significantly more difficult. Even ordinary body movements are usually no longer possible for the affected person without further ado, and involuntary muscle twitching occurs. The disease may be accompanied by hallucinations and memory lapses. In some cases, the affected persons are dependent on the help of other people in their daily lives and can no longer perform ordinary activities on their own. Unfortunately, this disease cannot be treated specifically. It is usually fatal. The symptoms can be limited 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 also suffer from mental illness or depression and also require treatment.
When should one go to the doctor?
When the typical symptoms and complaints of lethal familial insomnia appear, this is already a reason to see a doctor. The characteristic sleep complaints 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 above symptoms, parents must confer with the pediatrician. Hallucinations and personality changes are further warning signs that are best clarified immediately. If the symptoms appear in adulthood, those affected should inform the family doctor. Often, the diagnosis is made in childhood, many years before the first symptoms appear. Those affected can nevertheless take measures at an early stage to delay the onset of the disease. The disease itself cannot be treated. Affected persons should nevertheless consult a doctor and have the symptoms treated. In addition to the family doctor, an orthopedist, speech therapist, psychotherapist and physiotherapist can be consulted, depending on the symptoms. Genetic counseling and early detection take place in a specialized center for hereditary diseases.
Treatment and therapy
Lethal familial insomnia has no cure and is fatal within one to two years of onset. Treatment is aimed at relieving acute symptoms. Medication is used to try to halt the progression of symptoms for as long as possible. The stiffness of movement and muscle twitching are currently being treated with drugs for rheumatoid arthritis and Parkinson’s disease. So-called neuroleptics, antidepressants and beta-blockers are also used in lethal 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 lethal familial insomnia.
Prevention
There are currently no preventive measures for lethal familial insomnia.Because the disorder is based on a genetic defect, parents pass this predisposition on to their offspring, causing them to also develop lethal familial insomnia (FFI).
Follow-up
Because lethal familial insomnia is not curable, no special aftercare measures are possible. This is therefore limited to alleviating the acute symptoms in order to make the daily life of those affected as bearable as possible. Affected persons are in regular contact with the attending physician in order to permanently monitor the consistent intake of medication as well as its correct dosage. An important point of the aftercare of lethal familial insomnia is adequate psychological care. Since the disease progresses quite rapidly in most cases, and sufferers rapidly deteriorate in the process, it may help relatives to seek mental support to better cope with the process.
Here’s what you can do yourself
There is no known cure for lethal familial insomnia (FFI) as yet. In everyday life, it is only possible to alleviate the symptoms of the disease with the help of drug treatment. However, this does not slow down the progression of fatal familial insomnia. Patients should follow the doctors’ recommendations to combat the typical muscle twitching and joint stiffness. This means that they must take the prescribed drugs regularly. This reduces susceptibility to inflammation. In addition to physical discomfort, pain can also be alleviated by following the prescriptions given by medical professionals. The same is true for the neurological problems that are being treated. Taking the prescribed neuroleptics reduces the hallucinations caused by 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 the physical and psychological symptoms. However, in the later stages, patients must expect the effects of the treatment measures to diminish. As time goes by, it becomes more difficult to ease the daily life of the disease and to come to terms with lethal familial insomnia.
