Alzheimers disease: symptoms and treatment

Alzheimer's disease: symptoms, diagnosis and treatment

Alzheimer's disease is the most common cause of dementia and is characterized by the progressive deterioration of memory and other cognitive functions - including language, executive functions, visual-spatial skills, and behavior.

Alzheimer's disease is a major public health problem . Its prevalence is expected to increase significantly as the population ages. Alzheimer's disease is one of the leading causes of death in the elderly and is associated with significant caregiver burden, disability, the need for institutionalization, and increased healthcare costs.

Prevalence and causes of Alzheimer's disease

The incidence of the disease increases with age. Alzheimer's disease affects approximately 5% of people over the age of 65, and approximately 50% of people over the age of 85. Pathological features of the disease include amyloid plaques, neurofibrillary tangles, and loss of synapses and neurons. The cause of the disease is unknown, but molecular abnormalities in the brain include the accumulation of beta-amyloid (a peptide) in the extracellular space and the accumulation of an abnormally phosphorylated protein, tau, inside neurons, in the form of so-called tangles.

Genetic factors and heredity

Alzheimer's disease occurs primarily in "sporadic" and autosomal dominant forms. Alzheimer's disease is predominantly not inherited in a single gene (>99.9% of cases), and therefore most cases are considered sporadic. However, even in these sporadic cases, a large part of the risk for Alzheimer's disease is still genetic.

Alzheimer's risk is influenced by variants in one major gene, APOE, and more than 30 other genes. Three genes are responsible for autosomal dominant, predominantly young-onset Alzheimer's.

There are genetic tests for APOE and these three genes. The main gene implicated in the risk of developing Alzheimer's disease in older people is APOE, which is not a causative gene but strongly influences risk, especially in people aged 60-80. The APOE gene, which is on chromosome 19, occurs in three allelic variants.

Risk factors for Alzheimer's disease

The only proven risk factors for Alzheimer's disease are genetics and age. Alzheimer's disease is more common in women than in men, although this is likely due to the fact that women live longer.

Epidemiological studies have examined many environmental, health, and behavioral risk factors, but none have been consistently linked to an increased risk of developing the disease; this also applies to head trauma and infectious diseases.

There is some evidence that education or intellectual achievement prior to the onset of the disease plays a protective role.

Symptoms of Alzheimer's disease

Alzheimer's disease is characterized by a gradual and progressive decline in intellectual function. Memory impairment is usually the earliest and most prominent sign of the disease. It also develops as a result of impaired judgment and problem-solving skills, as well as impairments in language, visual-spatial skills, and executive function.

Less common forms of Alzheimer's disease, which are more common in younger people, include:

• Linguistically dominant symptoms, syndromically called primary progressive aphasia, especially its logopenic type;
• Cortical visual disorders, syndromically called posterior cortical atrophy

In general, the symptoms of Alzheimer's disease can be divided into cognitive and behavioral/non-cognitive symptoms.

Cognitive symptoms

• Memory changes: losing or misplacing things, forgetting meetings/appointments, repeating/repeating the same story or question.
• Impaired judgment: for example, hiding money or belongings.
• Abstract thinking disorder.
• Speech disorder: difficulty finding words or anomia (inability to name the necessary word).
• Disorientation to time and place.
• Praxis disorder: Difficulty performing previously learned actions, such as problems using mechanical devices, remote controls, telephones, and other similar items.
• Decreased attention.

Non-cognitive manifestations

• Negative changes in personality and mood: apathy, social isolation/withdrawal, and depression.
• Positive personality changes: anger, irritability, aggression, restlessness, and excitement.
• Psychotic behavior: for example, delusions (often paranoid in nature) and hallucinations.
• Psychomotor or sleep changes: wandering for no reason, worsening of symptoms in the evening, insomnia, and daytime sleepiness.

Diagnosis of Alzheimer's disease

Mental status assessment is important for diagnosis. One structured test for assessing mental status is the Mini-Mental State Examination (MMSE). The Montreal Cognitive Assessment (MoCA) is also widely used.

Laboratory studies

Blood tests are performed when evaluating dementia, including:

• Complete blood count;
• Electrolytes;
• Kidney function indicators;
• Liver function tests;
• Thyroid function tests;
• Vitamin B12 level.

The goal of these studies is to rule out various medical or metabolic disorders that may negatively affect cognitive function.

Depending on the clinical situation, other laboratory tests may be necessary, such as:

• Lyme disease testing;
• Syphilis testing;
• Erythrocyte sedimentation rate (ESR);
• Paraneoplastic antibody/marker panel;
• HIV testing.

Lumbar puncture and biomarkers

A lumbar puncture is often performed for two main reasons:

1. To exclude inflammatory, infectious or tumor diseases of the central nervous system;
2. Because biomarker testing can confirm or refute a clinical diagnosis of Alzheimer's disease.

In cerebrospinal fluid, β-amyloid-42 (Aβ42) is typically decreased, while total tau and phosphorylated tau are typically increased.

These changes can be detected even in the earliest stages of Alzheimer's disease.

Computed tomography and magnetic resonance imaging of the brain

Structural brain imaging is recommended when evaluating a patient with dementia:

• Computed tomography (CT) or
• Magnetic resonance imaging (MRI).

These studies can reveal:

• Post-stroke changes;
• Tumors;
• Abscesses;
• Hydrocephalus;

which may contribute to the development of cognitive symptoms.

In general, MRI is preferred because it allows for more sensitive assessment of brain structures.

Treatment and management of Alzheimer's disease

Management of Alzheimer's disease includes nonpharmacological interventions, symptomatic therapy, treatment of behavioral and neuropsychiatric symptoms, support for caregivers, and, in selected patients, disease-modifying therapy.

The goals of treatment are to maintain cognitive and functional abilities, reduce behavioral symptoms, maintain quality of life, as well as support for caregivers and long-term care planning.

Cholinesterase inhibitors and memantine provide modest symptomatic benefit at various stages of the disease. Anti-amyloid monoclonal antibodies are disease-modifying options for patients with early symptomatic Alzheimer's disease and documented amyloid pathology.

The course of Alzheimer's disease

Typically, Alzheimer's disease (AD) is a slowly and gradually progressive pathology characterized by a 10-20-year preclinical phase; this is followed by a phase of mild cognitive impairment (for several years), and then the diagnosis of Alzheimer's dementia is made.

The duration of the disease from the time of diagnosis can range from 15 to 20 years. Available data indicate that biomarkers of Alzheimer's disease may be detected up to 20 years before the first symptoms appear. In general, memory is the most affected area in the course of Alzheimer's disease, but visuospatial, executive, and language skills are also impaired. Ultimately, if patients live long enough, they may reach a point where they lose the ability to speak and move independently; the final fatal outcome is often due to pneumonia, bedsores (skin ulcers), or urinary tract infections.

A timely evaluation can help you determine the cause of your symptoms and plan your next steps.

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