Fatal Familial Insomnia

What Is Fatal Familial Insomnia?

Fatal familial insomnia (FFI) is a genetic disease that attacks the brain and central nervous system, inhibiting their proper functioning, and is marked by loss of sleep, hallucinations, muscle spasms, and dementia. There is no known cure for FFI, which results in rapid physical degeneration and death. Fortunately, FFI is extremely rare, with only one or two persons out of a million experiencing it. The source of the disease is the presence of prions, or mutated proteins, in the brain. For this reason, medical researchers categorize FFI as a prion disease rather than as a sleep disorder.

Though fatal familial insomnia cannot be prevented or cured, it can be treated to ameliorate symptoms and possibly extend the patient’s life. Palliative and hospice care are also available. If you or a loved one is suffering from a potentially life-threatening condition, the medical specialists at Baptist Health are available to help.

What Are the Symptoms of Fatal Familial Insomnia?

The first symptom of FFI is insomnia, or difficulty sleeping. It typically manifests in a patient’s middle age. This is followed by other symptoms:

  • Hypertension
  • Weight loss
  • Elevated heart rate
  • Profuse sweating
  • Diplopia (double vision)
  • Swings in body temperature

In the later stages of FFI, symptoms become more severe:

  • Involuntary muscle movements (ataxia)
  • Difficulty swallowing (dysphagia)
  • Memory loss
  • Hallucinations
  • Delirium

Though the onset of FFI is slow to occur, its development, once begun, is rapid. Persons with FFI typically die between six months and three years after the initial symptoms present.

What Causes Fatal Familial Insomnia?

FFI is caused by prions, or mutated proteins, found in the brain. The patient inherits the genetic mutation that creates these proteins from his or her parents. Mutated prions are sometimes described as “misfolded”. The prion’s misshapen quality undermines the role that the protein normally plays in brain health. Additionally, the misfolded characteristic of the prion may be transmissible to other molecular bodies, though this remains under study. Prions are implicated in a number of serious neurodegenerative diseases in humans and other mammals.

The lifetime buildup of prions in the thalamus is the trigger for fatal familial insomnia. The thalamus is a gray-matter structure inside the brain that, among other tasks, helps to regulate consciousness, mental acuity, and the sleep cycle. It is these critical aspects of a person’s existence that are threatened by the accumulation of prions in that part of the brain.

What are the Risk Factors for Fatal Familial Insomnia?

Risk factors for fatal familial insomnia include:

  • Genetics: FFI is caused by mutated proteins in the brain. People at risk for this condition are those that have inherited the genetic source for the mutations from a parent.
  • Age: The symptoms of FFI first tend to present themselves in a patient’s fifties, though there is some variation with regard to age. The buildup of prions in the thalamus must reach a certain threshold before the threat to health becomes observable.
  • Nationality: FFI is a rare disease everywhere but is more common among Europeans and people of European descent than in other parts of the world.

How Is Fatal Familial Insomnia Diagnosed?

FFI is marked by the symptoms noted above. Confirmation of diagnosis involves several types of medical testing:

  • Cerebrospinal fluid analysis (CSF): This is a test for indicators in brain and spinal column fluid that are associated with various medical conditions, including FFI.
  • Electroencephalogram (EEG): EEGs record patterns of brainwave activity, with an eye to apparent abnormalities.
  • Genetic testing: A genetic test can detect the presence of a mutated form of the PRNP gene, which provides the faulty chemical instructions for creating misfolded prions.
  • Imaging tests: These are non-invasive visual “snapshots” of the brain, such as computed tomography (CT) scans, positron-emission tomography (PET) scans, and magnetic-resonance imaging (MRI) scans.
  • Polysomnography: This is a sleep test, typically conducted overnight in a healthcare facility, with the patient connected to monitors that record physiological change throughout the sleep cycle.

The diagnosing physician may also order labs, including bloodwork and liver-function tests.

How Is Fatal Familial Insomnia Treated?

Because there is no cure for FFI, treatment focuses on controlling symptoms and reducing a patient’s discomfort. To that end, the following treatments are utilized:

  • Medications for inducing deep sleep, such as phenothiazines and gamma-hydroxybutyrate
  • Drugs for controlling muscle spasms, such as clonazepam
  • Vitamin therapy, especially iron and B vitamins
  • Medication management to decrease or eliminate drug usage in those cases where prescriptions exacerbate FFI symptoms
  • Psychosocial therapies, which emphasize adaptation by patients to current circumstances, with resources and reassurance from a likeminded support community
  • Hospice care during the terminal stage of the disease.

Research is ongoing for therapies to extend the life of FFI patients. The antibiotic drug doxycycline is showing promise as a potential medication.

Can Fatal Familial Insomnia be Prevented?

There is, unfortunately, no effective form of prevention for fatal familial insomnia. However, it is important to remember that FFI is extremely rare. Medical researchers have estimated that only individuals in roughly 30 families scattered throughout North America, Europe, East Asia, and Australia carry the gene that is the source of this condition.

Learn More About Fatal Familial Insomnia at Baptist Health

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