Fatal Familial Insomnia(A Complete Guide)
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In this guide, we will discuss what fatal familial insomnia means, symptoms, causes and treatment options.
Fatal Familial Insomnia: How fatal is it?
Fatal Familial Insomnia or FFI is a diagnosis that involves cognitive impairment (dementia) that progresses quickly, mood changes, difficulties when going to sleep, difficulties with balance, coordination, and speech.
It is usually detected through a combination of sleeping pattern studies and PET scans.
Fatal familial insomnia is very rare and it has a genetic component (inherited).
This condition affects the thalamus, which is the brain structure that has been associated with being responsible for very important functions such as sleep and emotional expression.
This condition is part of a group of conditions known as prion diseases and these are also rare conditions that cause brain cell death.
Besides fatal familial insomnia, there is an even rarer type called sporadic fatal insomnia and there are only a few documented cases.
Researchers suggest that this variant doesn’t seem to be genetically linked or inherited.
The connotation “fatal” from the name of this condition means that it actually causes the death of the person within a year or two of showing the first symptoms.
However, some people can surpass the 2 year period.
History of FFI
In the 1980s the first reports of this disease surfaced after an Italian man named Silvano presented his case to a group of neurologists with the news of a soon to be a departure from this world.
Hew predicted he would inevitably die since his sisters had recently passed away due to the same condition that he was suffering from, which eventually robbed him of his ability to fall asleep.
Additional studies after Silvano’s particular case revealed similarities with another disorder, the Creutzfeldt-Jacob Disease.
This disease is prominently responsible for memory loss problems.
Personality changes and involuntary movements, among other symptoms that can eventually become fatal.
Symptoms of Fatal Familial Insomnia
The characteristic symptom is progressive insomnia, often beginning during middle age but can occur earlier or later in life.
People with this condition will at first have difficulties falling asleep but then while the disease keeps progressing until the person gets very sleepy.
Insomnia will usually begin suddenly and get worse within the course of a few months.
This lack of sleep results in mental and physical deterioration leading to coma and resulting inevitably in death.
The symptoms seem to vary from one person to the other and they tend to manifest between the ages of 32 and 62 years, however, it is likely that it can start at an even younger or older age.
Early stages
Some of the symptoms that seem to manifest at an early stage of fatal familial insomnia are:
- Difficulties staying awake
- Difficulties falling asleep
- Muscle rigidity
- Muscle spasms
- Loss of appetite
- Dementia (progressive)
Advanced stages
Some of the symptoms that seem to manifest at an advance stage of fatal familial insomnia are:
- Inability to fall asleep
- Fever
- Excessive sweating
- Troubles with speech or swallowing
- Loss of coordination
- Impaired mental functioning
- Increased blood pressure and heart rate
- Unintended weight loss
- Hallucinations
- Episodes of confusion
- Double vision
- Jerky eye (nystagmus)
Additionally, some other symptoms may develop depending on the dysfunction and part of the autonomic system that has been affected, such as increased production of tears, constipation, and erectile dysfunction.
What causes Fatal Familial Insomnia?
FFI is a progressive neurodegenerative disease caused by a mutation of the PRNP gene that manifests by attacking the thalamus which in the end results in neuronal cell death.
The mutation of the gene derives into inefficient, absent or faulty protein production.
Depending on the functions of the particular protein, this can also affect other organs ins the body.
This gene mutation occurs at the time of the formation of the egg or sperm for that specific child, no other relative will be affected.
How does Fatal Familia Insomnia get detected?
If you suspect you might have this condition consult with your doctor.
He or show might start by asking you to keep detailed information about your sleeping habits for a specific period of time.
This will allow studying your sleeping cycle and patterns.
In addition, they may ask you to stay for a couple of nights at a hospital or sleep center so they can record data regarding your brain activity and heart rate.
This will also help to differentiate the condition from others such as apnea or narcolepsy.
Imaging techniques such as a PET scan could be used to determine the functioning of your thalamus that regulates involuntary or autonomic body processes such as breathing, sweating, temperature regulation, and heart rate.
Additionally, your doctor can also request genetic testing to confirm the diagnosis.
Positron emission tomography (PET)
This is a type of radionuclide scanning. The radioactive component (radionuclide) releases particles called positrons.
Here, a substance as glucose or oxygen, is labeled with a radionuclide.
This combination is called a radioactive tracer, that will collect specific information on tissues of the body.
The images produced, will show different levels of activity in different intensities of color, also providing information about the function of some tissues and identify others potentially abnormal.
Polysomnography
It is usually performed overnight in a sleep lab at a hospital, hotel room, clinic or any other facility that is equipped with a bed a bathroom and the equipment.
In this technique, electrodes are passed through the scalp and cafe to record eye movement and the brain’s electrical activity (EEG).
These electrodes are painless and it is very helpful when recording data about sleep patterns.
This technique can help recording breathing disorders such as obstructive or central sleep apnea, seizure disorder, narcolepsy, among other sleep-related diseases.
Treatment
There is no existing cure for Fatal Familial Insomnia yet. Some treatments can help to manage the symptoms but they just seem to work short term.
Research efforts aim to find effective treatments and measures to prevent it.
There are some studies that suggest that immunotherapy may help but there are no promising or significant results to confirm significant efficacy.
Why is this blog about Fatal Familial Insomnia important?
This blog post is important because it raises awareness of such a rare and fatal condition.
Here we discussed what FFI is, symptoms, causes and risk factors.
Also, even if there is no cure or effective treatment that has been proven to work long term, researchers are focusing their efforts into unraveling this disease and soon come up with a long term solution.
Frequently asked Questions (FAQ’s) about Fatal Familial Insomnia
How long can you live with fatal familial insomnia?
You can live with fatal insomnia between 12 to 18 months after the first symptoms start to manifest, with an expectancy of living between a few months to a few years.
How common is fatal familial insomnia?
Fatal Familial Insomnia is a very rare disease and only a few cases have been documented, it is said to affect 1 in 1,000,000 people a year.
What causes fatal insomnia?
It is a disease caused by a genetic mutation that eventually poisons the brain and results in death within a few months to a few years.
There are two forms: fatal familial insomnia (FFI), which is genetically inherited and sporadic fatal insomnia (SFI) which is due to a noninherited mutation.
Can you die from fatal familial insomnia?
Yes, you can die from Fatal Insomnia.
This is a rare prion disease that leaves the individual with little to no sleep generating cognitive decline and loss of coordination.
Death tends to happen within a few months of showing the first symptoms.
What is the most dangerous sleep disorder?
The most dangerous sleep disorder is insomnia, which in general terms is a difficulty falling or staying asleep.
It is also one of the most common sleep disorders.
If you get very little sleep one night, you can start experience the effects of sleep deprivation, which include impairments in concentrating or focusing, irritability and impulsivity.
Recommended Reading:
- The Family That Couldn’t Sleep: A Medical Mystery
- Fatal Familial Insomnia: (2nd Ed.)
- Reversing Fatal Familial Insomnia (FFI): Kidney Filtration The Raw Vegan Plant-Based Detoxification & Regeneration Workbook for Healing Patients
- Fatal Familial Insomnia: Inherited Prion Diseases, Sleep, and the Thalamus
References:
National Center for Advancing Translational Sciences
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