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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the TTR gene cause transthyretin amyloidosis. The TTR gene provides instructions for making a protein called transthyretin. Transthyretin transports vitamin A (retinol) and a hormone called thyroxine throughout the body. To transport retinol and thyroxine, four transthyretin proteins must attach (bind) to each other to form a four-protein unit (tetramer).</p><p>The TTR gene variants that cause transthyretin amyloidosis alter the structure of transthyretin, impairing its ability to form tetramers. As a result, the tetramers break down into individual transthyretin proteins, which attach to each other in strands called fibrils. The fibrils clump together and form amyloid deposits in certain tissues, leading to the signs and symptoms of transthyretin amyloidosis.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Transthyretin amyloidosis?"},{"bodyHtml":"<p>There are two major forms of transthyretin amyloidosis, which are distinguished by their symptoms and the body systems they affect.</p><p>The neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions. Impairments to bodily functions can include sexual impotence, diarrhea, constipation, problems with urination, and a sharp drop in blood pressure upon standing (orthostatic hypotension). Some people experience heart and kidney problems as well. Various eye problems may occur, such as cloudiness of the clear gel that fills the eyeball (vitreous opacity), dry eyes, increased pressure in the eyes (glaucoma), or pupils with an irregular or &quot;scalloped&quot; appearance. Some people with this form of transthyretin amyloidosis develop carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers.</p><p>The cardiac form of transthyretin amyloidosis affects the heart. People with cardiac amyloidosis may have an abnormal heartbeat (arrhythmia), an enlarged heart (cardiomegaly), or orthostatic hypertension. These abnormalities can lead to progressive heart failure and death. Occasionally, people with the cardiac form of transthyretin amyloidosis have mild peripheral neuropathy.</p><p>A less common form of transthyretin amyloidosis, called the leptomeningeal form, primarily affects the central nervous system. In people with this form, amyloidosis occurs in the leptomeninges, which are two thin layers of tissue that cover the brain and spinal cord. A buildup of proteins in this tissue can cause stroke and bleeding in the brain, an accumulation of fluid in the brain (hydrocephalus), difficulty coordinating movements (ataxia), muscle stiffness and weakness (spastic paralysis), seizures, and loss of intellectual function (dementia). Eye problems similar to those seen in the neuropathic form of transthyretin amyloidosis may also occur; people with leptomeningeal transthyretin amyloidosis who have these eye problems are said to have the oculoleptomeningeal form.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"transthyretin-amyloidosis","sourceDocuments":[{"name":"Transthyretin amyloidosis","reviewed":"2023-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:30.802654+00:00","label":"Causes","pageSha256":"1564e5a0eaba313bfa6bbc3f775ec13595e0014bde35859041c741c5fbe86771","sourceUrl":"https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Transthyretin amyloidosis"},"schemaVersion":1}