What is Familial Alzheimer's Disease?

Familial Alzheimer's disease (FAD) is an inherited form of dementia that generally affects individuals 60 years of age and younger. Also known as early-onset familial Alzheimer's disease (EOFAD), individuals with a genetic predisposition for this form of dementia develop progressively debilitating symptoms that culminate in a loss of cognitive function. In the absence of a cure, treatment for familial Alzheimer's disease generally utilizes medication to improve one’s quality of life and slow the disease's progression.

There is no known, definitive cause for the loss of cognitive function that is associated with the presence of Alzheimer's disease. Individuals with a family history of the disorder generally begin to exhibit signs and symptoms before they reach 60 years of age. Prominent, genetic mutations of primary neurological proteins, including the amyloid precursor protein (APP), have been associated with the presence of familial Alzheimer's disease. Research has also suggested that Alzheimer's development may be linked to a combination of contributory factors, including environment and lifestyle.

Individuals with a genetic predisposition for developing familial Alzheimer's disease are often aware of their situation, which is usually documented with their healthcare provider. A diagnosis of Alzheimer's is generally made once other conditions that may impair one’s cognition have been ruled out. Imaging tests may be administered to evaluate the condition and functionality of the brain and check for abnormalities, such as lesions or tumors. Blood tests are usually performed to discount the presence of any disease or deficiency that may contribute to one’s symptoms. Additionally, neuropsychological testing may be utilized to assess one’s cognitive abilities, namely his or her memory, reasoning and thinking skills.

Those with early-onset familial Alzheimer's disease may experience episodic confusion or memory impairment that causes them to repeat themselves during conversations or experience an inability to recall someone's name or an important date. As cognitive impairment progresses, he or she may place items in unlikely or unreasonable places, be unable to remember the names of common items or even the names of close friends and relatives. Additional signs of this debilitating disease can include insomnia, agitation, and anxiousness. Disease progression generally necessitates around-the-clock care for those who demonstrate an inability to independently care for themselves.

Treatment for familial Alzheimer's disease is generally centered on symptom management and improving one’s quality of life. To slow disease progression, it is not uncommon for medications designed to improve neurological function, such as cholinesterase inhibitors, to be utilized. The establishment of a routine, especially one that promotes physical and mental activity, and implementation of dietary and lifestyle changes are generally recommended to help slow symptom progression. Individuals diagnosed with familial Alzheimer's disease, along with their families and caregivers, are usually encouraged to join a support group that fosters FAD education and promotes healthy coping skills and amity.