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Transthyretin Amyloidosis

What is Hereditary Transthyretin Amyloidosis (ATTR)?

Hereditary Transthyretin Amyloidosis (ATTR) is a rare genetic disorder characterized by the buildup of abnormal proteins called amyloid fibrils in various tissues and organs throughout the body. ATTR is caused by mutations in the transthyretin (TTR) gene, which leads to the production of abnormal TTR proteins. These proteins can accumulate and cause damage to vital organs such as the heart, nerves, and digestive system.

What Are the Symptoms Associated with ATTR?

The symptoms of ATTR can vary depending on the affected organs. Common symptoms may include progressive muscle weakness, sensory loss, autonomic dysfunction, heart problems, gastrointestinal issues, and kidney dysfunction. The onset and severity of symptoms can also vary widely between individuals, even within the same family.

How is ATTR?Diagnosed?

Diagnosing ATTR involves a combination of clinical evaluation, family history assessment, and specialized tests. These may include blood tests, imaging studies, nerve conduction studies, biopsies, and genetic testing. Early diagnosis is crucial to initiate appropriate management strategies and to potentially explore targeted therapies, such as gene editing, to address the underlying cause of the disease.


What Are the Treatment Options for ATTR?

The management of ATTR aims to alleviate symptoms, slow disease progression, and improve quality of life. Treatment options may include medications to stabilize or reduce the production of abnormal TTR proteins, as well as supportive therapies to address specific organ involvement. Additionally, emerging therapies like gene editing techniques are being investigated to potentially correct the genetic mutation responsible for ATTR, offering a more targeted and potentially curative approach.

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