It is wonderful when patients take their health seriously and want to learn more, but sometimes they can be misled or misunderstand the information they read – particularly when it comes from the Internet. Such was the case with a recent patient of mine.

Ms. Z is a 26-year-old CPA who presented to our office with ongoing insomnia. She feels like she doesn’t sleep at all, and reports this has been occurring for some time. Since her mother has similar symptoms, she is concerned that she may have fatal familial insomnia.

I assured her she did not, and this is why. Fatal familial insomnia is a very rare prion disease. There are only 40 families in the world who are known to have the disease. It is an autosomal-dominant illness with a missense GAC to AAC mutation at codon 178 of the prion protein gene PRNP (D178N) cosegregating with the methionine polymorphism at codon 129 of the PRNP gene on the mutated allele (D178N 129M).

Brain autopsies on patients with the fatal familial insomnia reveal a spongy appearance, as is the case with other prion diseases. It is a progressive disease that begins with difficulty falling asleep and maintaining sleep. Patients often act out their dreams much like a patient with REM sleep behavior disorder.

Video: Fatal Familial Insomnia

Eventually there is a loss of slow wave sleep. As the disease progresses there is autonomic dysfunction, salivation, hyperhydrosis, tachycardia, tachypnea, tremor, dysphagia and dyspnea. The disease usually progresses to coma and then death.

Patients develop the symptoms somewhere between 40 and 60 years of age with the average patient being 50 years old. This disorder is always fatal, and death usually occurs within eight to 72 months.

Ignazio Roiter, an Italian physician, was first the first to discover the illness in 1974. He had no idea what he was dealing with, but realized there was a genetic component when he watched two sisters with symptoms he had never seen. When their brother also became ill, the doctor convinced him to help find a cure by donating his brain after his death.

The brain was flown to a neuropathologist, Pierluigi Gambetti, MD, of Case Western University in Cleveland, Ohio. Upon examination, the doctor first thought the patient had with Creutzfeldt-Jacob due to the spongiform appearance of the brain.

Gambetti then contacted Stanley B. Pruisner, MD, director of the Institute for Neurodegenerative Diseases at the University of California, San Francisco, who realized they were dealing with a prion disorder. Pruisner was later awarded the Nobel Prize in medicine for his discovery of rogue protein disorders – a discovery largely attributable to the family’s willingness to help scientists learn more about the unknown disease.

If you are interested in reading more about fatal familial insomnia, check out The Family That Couldn’t Sleep, by D.T. Max. You can also read more at the Genetic and Rare Diseases Information Center. Gene therapy will probably be the answer for future generations with this disease. For now, there is no cure.

As for my patient – she had acute insomnia that resolved with a simple sleep aid. She felt quite embarrassed when I told her fatal familial insomnia was highly unlikely unless she had a family member who had died from the disorder. However, as providers, we listen because you never know. Sometimes there are zebras. Anything is possible, but warn patients to be cautious about medical information on the Internet!

Sharon M. O’Brien, MPAS, PA-C, works at Presbyterian Sleep Health in Charlotte, N.C. Her main interest is helping patients understand the importance of sleep hygiene and the impact of sleep on health.