Disease name confirmation
- Disease name: Alzheimer's disease (Alzheimer's disease) — This is the standard name widely used in medicine.
1) Disease description (causes and symptoms)
- Summary: Alzheimer's disease is a degenerative neurological disease in which amyloid beta and abnormally phosphorylated tau proteins accumulate in the brain, causing the progressive loss of nerve cells; it is the most common cause of dementia.
- Pathophysiology (briefly): The accumulation of amyloid plaques, formation of neurofibrillary tangles (tau), decline in synaptic function, neuroinflammatory responses, and microglial activation act together to progressively worsen cognitive and behavioral functions. Deficiency of the cholinergic neurotransmitter system is also associated with cognitive decline.
- Main causes/risk factors:
- Older age (strong risk factor), family history (especially early-onset familial disease: APP, PSEN1, and PSEN2 mutations), ApoE ε4 gene (increased risk of onset)
- Down syndrome (related to chromosome 21), lower educational attainment, female sex (in certain age groups), cardiovascular risk factors (hypertension, diabetes, hyperlipidemia, obesity), smoking, etc.
- Main symptoms:
- Early stage: Difficulty remembering new information (short-term memory impairment), difficulty recalling names and objects
- Progression: Language impairment (aphasia), decline in executive function (difficulty performing household tasks), visuospatial impairment (difficulty finding one's way), agnosia, impaired judgment
- Behavioral and emotional symptoms: Depression, anxiety, agitation, visual hallucinations/delusions (especially after the middle stage), nighttime delirium/sleep disorders
- Differential diagnosis points: Delirium, depression (pseudodementia), normal-pressure hydrocephalus, hypothyroidism, nutritional deficiencies, medications/toxins, and other dementia-like causes must be ruled out.
2) Treatment methods and precautions
- Goal: Complete treatment (fundamental reversal) is currently difficult; the goals are to delay cognitive decline, relieve symptoms, and maintain quality of life.
- Drug treatment (standard and recommended)
- Cholinesterase inhibitors: donepezil, rivastigmine, galantamine — helpful for maintaining cognition and function in mild to moderate disease
- NMDA receptor antagonist: memantine — used in moderate to severe disease
- Treatment of behavioral and psychiatric symptoms: SSRIs are considered first for depression; antipsychotics should be used cautiously for psychotic symptoms (delusions, severe aggression, etc.), considering the increased risk of death and adverse effects.
- Disease-modifying treatment (selective use): Recently, anti-amyloid monoclonal antibodies (such as lecanemab) may be used under specific conditions (biomarker confirmation and clinical indication). Although their effect is limited, they may partially slow disease progression by removing amyloid. Because of risks including cerebral hemorrhage and brain edema (ARIA), the indication and necessary tests (brain MRI, amyloid PET, or CSF biomarkers) should be reviewed and decided on at a specialist clinic or center.
- Non-drug treatment
- Cognitive rehabilitation, occupational therapy, activities of daily living training, and environmental adaptation (cue labeling and simplified daily routines)
- Exercise (aerobic plus strength training), regular sleep, and maintaining social and intellectual activities
- Education and respite support for family members and caregivers (caregiving stress management)
- Complications and precautions
- Medication side effects (nausea, diarrhea, bradycardia, dizziness, etc.); potentially fatal complications may occur with antipsychotic use.
- Falls, nutritional decline, aspiration pneumonia, infections (urinary tract infections and pneumonia), immobility (reduced mobility), etc.
- Decline in the ability to drive and make financial or legal decisions → Early legal and financial preparation is recommended.
3) Checklist before an outpatient visit (including preparation items and sample questions)
- Preparation items (recommended to bring)
- A list of all medications and supplements currently being taken (if possible, the actual medications or photos)
- Copies of recent test results (blood tests, TSH, vitamin B12, chest images, etc.) and brain imaging (MRI/CT), if available
- Notes summarizing when the symptoms began and their course (when they started, gradual/rapid onset, pattern of worsening)
- Specific examples of difficulties in daily life (frequently getting lost, losing objects, problems with calculations, etc.)
- Observations recorded by caregivers or family members (behavioral changes, sleep patterns, changes in food intake, etc.)
- Information on the legal representative and emergency contact
- Items to show the doctor during the outpatient visit
- When the symptoms began and how they have changed (photos, recordings, or a brief diary)
- Safety-related concerns such as falls, wandering, and driving problems
- Sample questions to ask before the outpatient visit (questions for the patient or caregiver to write down and bring)
- What effects should we expect from starting this medication, and when are they expected to appear?
- What are the medication's main side effects, and how should they be managed?
- What additional tests are needed (blood tests, MRI, PET, or CSF)?
- What safety recommendations apply to accidents, wandering, and driving?
4) General sample questions to ask the doctor
- What are the advantages and disadvantages of this medication (for example, donepezil or memantine)? What side effects are common?
- How can we determine whether I am a candidate for disease-modifying treatment (anti-amyloid antibodies) given my condition? What tests are needed?
- What safety issues or environmental adjustments should my family pay the most attention to in daily life right now?
- How can the future rate of cognitive decline and prognosis be predicted? When should legal and financial preparations begin?
5) Examples of disease-specific questions
- In my case (or the caregiver's case), should an amyloid PET or CSF test be performed to determine eligibility for anti-amyloid treatment? What information and risks are associated with the test?
- The recent worsening of cognitive ability appears sudden. How should reversible causes such as delirium, infection, and electrolyte abnormalities be evaluated? What emergency symptoms (such as fever or rapidly worsening confusion) require an immediate visit?
Notes (diagnosis and treatment require individual evaluation)
- Diagnosis is made based on a comprehensive assessment of the medical history, physical examination, cognitive testing, blood tests, brain imaging, and, when necessary, biomarker testing (amyloid PET and CSF testing).
- Treatment decisions should be individualized according to the patient's overall condition (age, severity, comorbidities, living environment, caregiver support, etc.).
(Medical decisions should be made in consultation with the treating medical team.)