When we think of Alzheimer's , we think of a disease that develops with age and gradually loses memory, right? That's true. Most people develop Alzheimer's after the age of 65. But did you know that, very rarely, there is also a type of Alzheimer's that can develop at a younger age, that is, even in their 30s, 40s, or 50s? This is caused by a genetic influence that is passed down from generation to generation . Today we are talking about this rare, but very important topic, familial Alzheimer's disease, or FAD.
How is this different from regular Alzheimer's disease?
There are two main types of Alzheimer's disease. Understanding the difference between the two will help you understand what FAD is.
| Alzheimer's type | Main features and differences |
|---|---|
| Familial Alzheimer's (FAD) | This is very rare. Less than 5% of Alzheimer's patients have this type. It is caused by a genetic mutation that is passed down through generations. Symptoms can begin before the age of 65 , sometimes even in the 30s. |
| Sporadic Alzheimer's | This is the most common type. About 95% of Alzheimer's patients fall into this category. Symptoms usually appear after the age of 65. The exact cause of this is not yet known. It is believed to be a combination of factors such as genes, environmental factors, and lifestyle. |
Why does this disease called FAD occur?
Simply put, FAD is caused by a single gene mutation that is passed down from generation to generation within a family. These mutationsThe gene causes abnormal proteins to build up in the brain. Over time, these damage brain cells, impairing memory and other mental processes.
Three main genes have been identified that affect this:
- Presenilin 1 (PSEN1)
- Presenilin 2 (PSEN2)
- Amyloid precursor protein (APP)
The important thing is, if either your mother or father has this gene mutation, you have a 50% chance of inheriting it too. This doesn't skip a generation.
A mutation in one of these three genes is sufficient to cause FAD. Of these, the most common is a mutation in the gene called `PSEN1`.
Who is most at risk of developing this disease?
This is pretty clear. The single most important risk factor for FAD is family history . If one of your parents has a gene mutation that causes FAD, you have a 50% chance of inheriting it and developing the disease.
This means that if your mother's side has the disease, your aunts, uncles, grandparents, and great-grandparents on that side are also likely to have the disease. Sometimes, if your parents died young from other causes, you may not know whether they had the disease or not. In such cases, it can be difficult to know your family's risk.
Unlike typical Alzheimer's disease, lifestyle and environmental factors do not directly influence the development of FAD. The main cause is genetic inheritance.
What are the symptoms of this disease? How do you recognize it?
Symptoms of FAD usually begin in your 30s, 40s, or 50s . They can be difficult to recognize at first. You may notice these changes before your family or friends do.
The main symptoms may be:
- Memory loss: This is not a normal part of aging. You start to forget recent events and conversations . This condition gets worse over time.
- Apathy: You may lose interest in activities or hobbies that you used to enjoy. This can look like depression .
- Changes in behavior and personality:You may notice changes such as becoming uncontrollably angry, agitated, or unnecessarily suspicious.
- Difficulty moving: You may experience stiffness in your body, stumbling while walking, and slow movements.
- Tremors : Uncontrollable shaking (jerking movements) may occur, starting in the fingers and spreading to the arms and legs.
- Seizures : Some patients may also experience seizures.
- Speech difficulties: This can include difficulty finding words and slurring speech.
The important thing is, you are likely to start experiencing these symptoms at about the same age as your mother or father.
How to accurately confirm the disease?
If you have these symptoms, the first thing you should do is see a qualified doctor . The doctor will ask about your symptoms, your health history, and especially your family's health history.
Several tests can be done to confirm the diagnosis:
1. Cognitive tests: You will be given a series of simple questions and activities that measure things like your memory, attention, and problem-solving abilities.
2. Brain scan: A CT scan or MRI scan may be recommended to check for any brain damage or shrinkage.
3. Genetic testing: If you have a strong suspicion of FAD, especially if you are young and have a family history of the disease, your doctor may recommend genetic testing. This is a simple blood test. This can determine if you have a mutation in the genes `APP`, `PSEN1`, or `PSEN2`.
Before undergoing this type of genetic testing, you will be referred to a genetic counselor or specialist who will explain the possible implications of the test results and how they will affect you and your family.
What are the treatments for this?
Unfortunately, there is no cure or treatment for FAD yet. However, there are several medications that can help control symptoms and improve quality of life.
Your doctor may recommend treatments such as:
- Medications such as cholinesterase inhibitors and memantine can help control memory-related symptoms.
- Medications such as (SSRIs) can help control mood swings and behavioral problems (anger, depression).
- Separate medications for physical symptoms like tremors, stiffness, and seizures.
- Psychotherapy can also help you stay mentally strong.
What complications can occur when the disease becomes severe?
As the disease progresses over time, various complications can occur. Being immobile and unable to walk can lead to bedsores , skin infections , and blood clots .
One of the most important and dangerous complications is difficulty swallowing food and drink . This can cause food particles and water to accidentally enter the lungs through the trachea. This can lead to bacteria entering the lungs and causing severe pneumonia (aspiration pneumonia). This is a major cause of death in Alzheimer's patients.
How to live with this disease?
Although FAD cannot be stopped, there are several things you and your family can do to make the time you live with the disease as comfortable and quality as possible.
- Stay mentally active as much as possible: Engage in activities that exercise your brain, such as reading books and solving simple puzzles.
- Stay physically active: Engage in simple exercises as much as possible, as recommended by your doctor.
- Eat a healthy diet.
- Reduce stress: Things like meditation and deep breathing exercises can help.
- Accept the help of family and friends: It's hard to go through this journey alone. The support of loved ones is very important.
- Join support groups: Get support and knowledge from organizations that help patients and their families like this.
FAD is a challenging disease, but with the right knowledge, medical treatment, and family love and support, this challenge can be met.
Take-Home Message
- Familial Alzheimer's Disease (FAD) is a rare, hereditary form of Alzheimer's disease that appears at a young age.
- This is caused by a specific genetic mutation. If one parent has this gene, there is a 50% chance that a child will inherit it.
- Symptoms include memory loss, behavioral changes, and difficulty moving.
- Although the disease cannot be completely cured, there are treatments to control symptoms and improve quality of life.
- If you or someone in your family has any doubts about this, it is very important to seek advice from a qualified doctor as soon as possible.
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