Who is at Risk of Developing Alzheimer’s Disease?

Is there a Genetic Basis for Alzheimer’s Disease?

Quality of Life for Alzheimer’s Sufferers

Alzheimer’s disease is a progressive brain disorder that causes a gradual deterioration of the intellectual ability to remember, reason, learn, and imagine, and the loss of physical functioning. It must be distinguished from mild forgetfulness known as benign senescent forgetfulness. As the disease progresses, sufferers may become unable to recognise themselves or the world around them, and these symptoms may be accompanied by depression, anxiety, and paranoia. Alzheimer’s disease progresses slowly, the average duration being eight years, but it can range from under two to over twenty years. According to current medical opinion, Alzheimer’s disease is not curable or reversible, however, there are treatments available to alleviate symptoms of the disease, and slow its progression, thereby reducing suffering for victims and their families.

What Causes Alzheimer’s Disease?

It is not yet known what causes Alzheimer’s disease, however, research has shown that, in Alzheimer’s sufferers, abnormal brain tissue, including senile plaques (chemical deposits consisting of degenerating nerve cells combined with a form of protein called beta amyloid) and neurofibrillary tangles (malformations within nerve cells), replaces healthy brain tissue, and causes massive loss of function in the areas of the brain associated with intellectual function. Research is currently being carried out to determine whether the deposits of amyloid protein might be caused by an infection, an environmental toxin, or a genetic trait. Other possible causes of Alzheimer’s disease under investigation include: deficiency of the neuro-transmitter acetylcholine in the brains of sufferers; virus infection; genetic predisposition; accelerated aging; auto-immune attack; hormonal factors, particularly reduced levels of oestrogen.

Who is at Risk of Developing Alzheimer’s Disease?

Alzheimer’s disease is not a natural or inevitable consequence of ageing, however, increased age is one of the main risk factors. Most Alzheimer’s sufferers are over 65, and only a small minority are under 50. A rare and rapidly progressive form of Alzheimer’s disease can occur in some people in their 40s and 50s. Other factors that increase the risk of Alzheimer’s disease include family history, head trauma, and Down’s syndrome. Other possible risk factors include: a personal history of high blood pressure, heart disease, or stroke; nutritional deficiency of antioxidants; and little use of non-steroidal anti-inflammatory drugs.

Is there a Genetic Basis for Alzheimer’s Disease?

It has been suggested that heredity may play a part in the development of the disease. In research on families in which the disease has frequently occurred before the age of 50, a genetic basis has been identified through the discovery of several genetic markers on chromosomes 21 and 14. Evidence points to chromosome 19 as being implicated in certain other families in which the disease has frequently developed at a later age.

Symptoms of Alzheimer’s Disease

Problems of memory loss, particularly recent or short-term memory, are common in the early stages of the disease. For instance, the individual may, on repeated occasions, forget to turn off a household appliance, misplace everyday objects, or may not remember whether they had taken some prescribed medication. Mild personality changes, such as distrust, restlessness, apathy, or a lack of spontaneity, may also occur in the early stages of the disease.

In the second stage of the disease, the sufferer will experience confusion. The individual may become confused about what day, month or year it is, and be unable to describe accurately where they live, or to name correctly a place being visited. Problems in abstract thinking or intellectual functioning develop, and the individual may begin to have trouble with figures when paying bills, with understanding what is being read, or with organizing tasks. A tendency to withdraw from social situations begins.

Later in the course of the disease, the affected individual will be unable to carry out everyday tasks such as bathing, eating, and using the toilet. There may be a lack of interest in personal hygiene, and an increasing inability to dress appropriately. Eventually they may start to wander, be unable to engage in conversation, exhibit a loss of usual sexual inhibitions, and appear inattentive, uncooperative, and erratic in mood. There may be further disturbances in behaviour, such as fear, agitation, irritability, belligerence, repetitive activities, and great difficulty in communicating, as ability in written and spoken language declines. They may have difficulty recognising their closest companions, and even their own mirror image.

In the final stages of the disease, Alzheimer’s sufferers will become bedridden, completely unable to recognise themselves or those closest to them. They may make small, purposeless movements, and communicate by crying out occasionally. Death results not from the disease itself, but usually a secondary illness, such as heart disease or pneumonia.

How is Alzheimer’s Disease Diagnosed?

The clinical diagnosis of Alzheimer's disease has been referred to as ‘diagnosis by exclusion,’ and can only be made by observing clinical deterioration over time. A reliable, specific diagnostic marker for the disease is not yet available, although biochemical research into this is currently being carried out.

Abnormal brain tissue findings, only visible under a microscope, can strongly indicate Alzheimer’s disease. Other non-specific tests can also suggest the disease, but diagnosis is usually based on the clinical symptoms of the patient, when other causes of progressive dementia have been excluded. People with symptoms of dementia should be properly evaluated to avoid their being inappropriately or negligently labelled as suffering from Alzheimer’s disease. In addition to specific laboratory and imaging tests, the physician will carry out a complete physical examination, and take a family history.

Laboratory and specific tests that may be carried out include: a complete blood count (CBC); thyroid function test; urine analysis; folate and B12 level tests; liver and renal panel studies; HIV and syphilis test; cerebrospinal fluid analysis; and neuropsychological testing. A Computer-Assisted Tomography (CAT scan) helps to establish the presence of other disorders, some reversible, that mimic Alzheimer's disease, but this cannot be used alone in the first stages of the disease to make a definitive diagnosis of Alzheimer's disease. In later stages, a CAT scan often reveals changes characteristic of Alzheimer's disease, i.e., an atrophied (shrunken) brain with widened tissue indentations and enlarged cerebral ventricles (fluid-filled chambers). Both positron emission tomography (PET scan) and SPECT (single photon emission computerized tomography) can reveal abnormalities characteristic of Alzheimer's disease. Another method, magnetic-resonance imaging (MRI), provides both structural and chemical information and distinguishes moving blood from static brain tissue.

Treatment of Alzheimer’s Disease

Treatment of Alzheimer’s disease aims to preserve a good overall quality of life for as long as possible, and to relieve some of the more adverse symptoms of the disease. Medication can help to improve alertness and memory function, and to regulate mood and behavioural disturbances. The medical practitioner will closely monitor the patient’s progress, to check for any medical complications, and adjust medication where necessary. Mental status tests may also be routinely carried out to chart the course of the disease. The medical practitioner will also determine at what stage the sufferer may require professional nursing care outside the home, as the welfare of the primary caregiver is also a major concern.

The sufferer is encouraged to continue physical activity for as long as possible, to prevent muscle atrophy and further complications. Exercise may also help to lift the mood. Repetitive exercise such as walking and indoor cycling may reduce anxiety, as no decision-making is involved. In the early stages of the disease, written memory aids are helpful, as is repeated reassurance from family and friends. There is no specific dietary treatment for Alzheimer’s disease, but if sufferers are hyperactive, stimulants such as tea, coffee and cola should be avoided. Optimum nutrition should be a priority, in order to boost mental and physical well-being. Lecithin has been shown to improve orientation, learning and memory in some Alzheimer’s disease patients.

Quality of Life for Alzheimer’s Sufferers

In Alzheimer's disease, the specific problems, along with the rate and severity of decline, can vary considerably from patient to patient. Most patients can function reasonably well, and remain at home far into the course of the disease, still able to enjoy reading, or perhaps a game of tennis, although playing the piano or a game of chess may be too difficult. The longer the Alzheimer’s patient can remain independent, the better. Patients maintain the capacity for giving and receiving love, for experiencing warm interpersonal relationships, and for participating in a variety of meaningful activities with family and friends throughout most stages of the disease.

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