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Transthyretin amyloidosis is a slowly progressive disease characterized by abnormal accumulations of a protein called amyloid in the body's organs and tissues. Transthyretin amyloidosis is divided into three key types, based on their signs and organ systems that they affect. Transthyretin amyloidosis's neuropathic form is primarily responsible for peripheral and autonomic nervous systems, resulting in peripheral neuropathy and trouble controlling bodily functions. Some people have heart and kidney problems as well. Various eye problems may arise, including the cloudiness of the clear gel that fills the eyeballs, dry eyes, increased pressure in the eyes, or pupils with an irregular or scalloped appearance. Some people with this condition of transthyretin amyloidosis experience carpal tunnel syndrome, which is characterized by numbness, tingling, and a lack of hand and fingers. Transthyretin amyloidosis, primarily affects the central nervous system. Amyloidosis occurs in the leptomeninges, which are two thin layers of tissue that cover the brain and spinal cord in people with this condition. Eye disorders in the neuropathic variety may also occur. When people with leptomeningoretin amyloidosis have eye disease, they are believed to have the oculomeningeal form. The heart is affected by transthyretin amyloidosis' cardiac manifestation. An abnormal heartbeat, an enlarged heart, or orthostatic hypertension may be present in people with cardiac amyloidosis. Occasionally, people with the cardiac manifestation of transthyretin amyloidosis develop mild peripheral neuropathy.
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