Amyloidosis, hereditary, transthyretin-related

Symptoms

What are the main symptoms of hereditary transthyretin amyloidosis?

How hereditary or familial transthyretin amyloidosis affects a person can be very different from person to person. Within families, the symptoms tend to be very similar. The most common form of hereditary transthyretin amyloidosis affects the nerves of the peripheral and autonomic nervous systems. The peripheral nerves are those outside of the central nervous system (the brain and spinal cord). Symptoms of peripheral nerve involvement include strange sensations like tingling, burning or a "pins and needles' feeling in their legs. Sometimes there may be numbness or pain. These nerve problems get progressively worse and people start having trouble walking. As the disease progresses, the thigh, trunk, arms, and fingers will become affected.

Some people have carpal tunnel syndrome, a condition where there is tingling, burning and a "pins and needles" sensation in the hands because of a problem with a nerve in the wrist. This is often an early sign of the disorder and can occur before other symptoms are noted.

The autonomic nervous system refers to all the jobs the body performs without a person thinking about them. This includes regulating the heart, sweating, and breathing. Autonomic nervous system problems can cause constipation, diarrhea, a lack of sweating, a drop in blood pressure upon standing (orthostatic hypotension), and, in men, impotence.

The heart can be affected. Sometimes, the heart is affected by itself and sometimes along with the peripheral and autonomic nervous systems. Symptoms of heart involvement can be very mild or severe and life-threatening. Dizziness, heart palpitations, unintended weight loss, fatigue, problems sleeping, shortness of breath and fluid buildup in the legs causing swelling (edema). Other symptoms include irregular heartbeats (arrhythmias), fainting or passing out, and conduction defects. Conduction defects means that the transfer of electrical impulses, called conduction, that regulate the normal pumping action of the heart is abnormal. Conduction defects may not cause symptoms, but if they are severe, they can lead to sudden death.

Some people may develop restrictive cardiomyopathy. In this condition, the upper chamber of the heart does fill with blood as it normally does. This occurs because the heart muscle is stiff (due to the buildup of amyloid). Restrictive cardiomyopathy can cause difficult, labored breathing (dyspnea) and eventually lead to heart failure.

Less often, the eyes or the brain can be affected. If the eyes are affected, there can be dry eyes, glaucoma or cloudiness of the vitreous. The vitreous is the gel-like substance that fills up most of the inside of the eye. These problems can cause a decrease in the sharpness of a person's vision. If the brain is affected, there can be seizures, stiffening of the muscles, poor coordination, bleeding on the brain, psychosis or dementia.

References
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What are the main symptoms of the polyneuropathy form of hereditary transthyretin amyloidosis?

What are the main symptoms of hereditary transthyretin amyloidosis affecting the heart?

What are the main symptoms of leptomeningeal amyloidosis?

What are the main symptoms of the polyneuropathy form of hereditary transthyretin amyloidosis?

People with the polyneuropathy of hereditary transthyretin amyloidosis have problems with the peripheral nervous system and the autonomic nervous system. Polyneuropathy means disease affecting many nerves. The peripheral nervous system are the nerves that are outside the central nervous system. Peripheral nerves control sensation, movement and motor coordination. Individuals may have strange sensations like tingling, burning or a "pins and needles' feeling in their legs. Sometimes there may be numbness or pain. These nerve problems get progressively worse and people start having trouble walking. As the disease progresses, the thigh, trunk, arms, and fingers will become affected.

Some people have carpal tunnel syndrome, a condition there is tingling, burning and a "pins and needles" sensation in the hands because of a problem with a nerve in the wrist. This is often an early sign of the disorder and can occur before other symptoms are noted.

The autonomic nervous system refers to all the jobs the body performs without a person thinking about them. This includes regulating the heart, sweating, and breathing. Autonomic nervous system problems can cause constipation, diarrhea, a lack of sweating, a drop in blood pressure upon standing (orthostatic hypotension), and, in men, impotence.

Sometimes people with this form of hereditary transthyretin amyloidosis only have problems with the nerves. Other times, the heart or the eyes may be affected. Heart disease is called cardiomyopathy, in which the heart muscle becomes stiff, thickened, or enlarged. This can lead to heart failure.

If the eyes are affected, people may have dry eyes, glaucoma, or cloudiness of the vitreous. The vitreous is the gel-like substance that fills up most of the inside of the eye. These problems can cause a decrease in the sharpness of a person's vision.

References
What are the main symptoms of hereditary transthyretin amyloidosis affecting the heart?

Hereditary transthyretin amyloidosis can affect the heart. Sometimes only the heart is involved; other times, the heart is one of several organs affected. Heart problems in hereditary transthyretin amyloidosis are caused because of the buildup of abnormal proteins called amyloid in heart tissues. Symptoms of heart involvement can be very mild or severe and life-threatening. Dizziness, heart palpitations, unintended weight loss, fatigue, problems sleeping, shortness of breath and fluid buildup in the legs causing swelling (edema). Other symptoms include irregular heartbeats (arrhythmias), fainting or passing out, and conduction defects. Conduction defects means that the transfer of electrical impulses, called conduction, that regulate the normal pumping action of the heart is abnormal. Conduction defects may not cause symptoms, but if they are severe, they can lead to sudden death.

Some people may develop restrictive cardiomyopathy. In this condition, the upper chamber of the heart does fill with blood as it normally does. This occurs because the heart muscle is stiff (due to the buildup of amyloid). Restrictive cardiomyopathy can cause difficult, labored breathing (dyspnea) and eventually lead to heart failure.

References
What are the main symptoms of leptomeningeal amyloidosis?

Leptomeningeal amyloidosis is a specific form of hereditary transthyretin amyloidosis. Leptomeningeal refers to the membranes (meninges) covering the brain and spinal cord. Individuals can have seizures, stiffening of the muscles, poor coordination, bleeding on the brain, psychosis or dementia. This is an extremely rare form. Sometimes, people also have problems with their eyes including clouding of the gel-like substance that fills up most of the eye (vitreous opacity). This is sometimes called familial oculoleptomeningeal amyloidosis.

References

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