Fam. Alzheimer’s: what is it?

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Familial Alzheimer’s disease (FAD) is an inherited form of dementia that typically affects individuals aged 60 or younger. Also known as familial early-onset 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 usually uses drugs to improve quality of life and slow the progression of the disease.

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

Individuals with a genetic predisposition to developing familial Alzheimer’s disease are often aware of their situation, which is usually documented with their doctor. 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 function of the brain and check for abnormalities, such as lesions or tumors. Blood tests are usually done to discount the presence of any disease or deficiency that may be contributing to your symptoms. In addition, neuropsychological tests can be used to evaluate one’s cognitive abilities, namely memory, reasoning and thinking skills.

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

Treatment for familial Alzheimer’s disease usually focuses on managing symptoms and improving quality of life. To slow the progression of the disease, it is not uncommon for drugs designed to improve neurological function, such as cholinesterase inhibitors, to be used. Establishing a routine, especially one that promotes physical and mental activity, and implementing dietary and lifestyle changes are generally recommended to help slow the progression of symptoms. Individuals diagnosed with familial Alzheimer’s disease, along with their families and caregivers, are generally encouraged to join a support group that promotes FAD education and promotes healthy coping skills and friendship.

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