A rare, rapidly developing, and frequently fatal condition known as transthyretin-mediated amyloidosis (ATTR) is brought on by the buildup of
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A rare, rapidly developing, and frequently fatal condition known as transthyretin-mediated amyloidosis (ATTR) is brought on by the buildup of misfolded transthyretin (TTR) protein in a number of the body's organs and tissues. TTR is mostly made in the liver and is involved in the transportation of retinol-binding protein and thyroid hormone. Amyloid fibrils are created when TTR misfolds and becomes unstable in ATTR. These fibrils then accumulate in tissues like the heart, neurons, and gastrointestinal system. Numerous symptoms and consequences result from these deposits interfering with the affected organs' ability to operate normally. Hereditary ATTR (hATTR) is a prevalent form of ATTR that arises from mutations in the TTR gene. Because of these mutations, misfolded TTR is produced, which raises the possibility of amyloid development. Depending on the particular mutation, hATTR can present in a variety of ways; symptoms usually arise in maturity. Peripheral neuropathy, or damage to the nerves, cardiomyopathy, or disease of the heart muscles, and gastrointestinal problems are common symptoms. Wild-type ATTR (wtATTR), sometimes referred to as senile systemic amyloidosis, is an additional kind of ATTR. In contrast to hATTR, wtATTR is brought on by age rather than genetic changes. The TTR protein may become less stable and more prone to misfolding as people age, which can result in amyloid deposits in tissues. Heart failure and arrhythmias are among the symptoms of wtATTR, which commonly impact the heart. The diagnosis of ATTR might be difficult because to the significant variations in its clinical presentation. Patients may have symptoms associated with the particular organs where amyloid deposits are present. For instance, people with neuropathy may have numbness, tingling, and weakness in their extremities, whereas people with cardiac involvement may have heart failure symptoms including exhaustion and shortness of breath. Recent years have seen a change in ATTR treatment possibilities, with novel treatments intended to stabilize TTR, lower the amount of aberrant TTR produced, or eliminate amyloid deposits already present. These therapies may not be able to repair already-existing organ damage, but they can help delay the course of the illness and alleviate its symptoms. Since ATTR can have a substantial morbidity and death rate and advance quickly, early identification and treatment are essential to its management. Amyloid deposits are confirmed by tissue biopsies and imaging investigations, but genetic testing can identify those who are at risk for hATTR. To provide patients with ATTR with comprehensive care, a multidisciplinary approach comprising cardiologists, neurologists, genetic counselors, and other specialists is frequently required.
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