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Transthyretin Amyloidosis

What is Hereditary Transthyretin Amyloidosis (ATTR)?

Hereditary Transthyretin Amyloidosis (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.

ATTR includes the transthyretin amyloidosis polyneuropathy (ATTR-PN) and transthyretin amyloidosis cardiomyopathy (ATTR-CM), of which ATTR-CM is divided into wild-type ATTR (ATTRwt) and hereditary ATTR (hATTR).

The incidence of ATTRwt increases with age, accounting for nearly 87.5%. It mainly affects older men, with it being more common among those over 65 years of age. hATTR is caused by mutations in the TTR gene, and patients develop it at an earlier age, mostly around 50-60 years old.

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.