Transthyretin amyloidosis (ATTR) is an underdiagnosed disease. Learn to suspect and detect the clinical clues.1
Amyloidosis refers to a group of diseases in which amyloid fibrils deposit into the extracellular spaces of multiple organs and nerves, ultimately leading to progressive organ dysfunction and nerve damage.1,2
ATTR amyloidosis is caused by the destabilisation and misfolding of transthyretin (TTR) protein—a tetrameric transporter of thyroxine and retinol-binding protein.1,3
Because the symptoms are similar to other conditions, and it impacts multiple systems in the body, ATTR is often underdiagnosed.1
A multidisciplinary approach can help recognise the red flags of ATTR that present throughout the body.4
There are 2 primary manifestations of ATTR amyloidosis: transthyretin amyloid cardiomyopathy (ATTR-CM) and transthyretin amyloid polyneuropathy (ATTR-PN).5,6
Patients with ATTR-CM present with symptoms of heart failure and may also present with other symptoms, such as atrial fibrillation, carpal tunnel syndrome, or peripheral neuropathy.1,8-11
Suspicion of cardiac involvement should prompt immediate cardiac evaluation to assess for ATTR-CM.4
Multidisciplinary care that involves partnership with cardiologists can uncover appropriate treatments that may lead to improved outcomes.4
Patients with ATTR-PN often present with symptoms of progressive sensorimotor neuropathy and autonomic dysfunction and can present with concomitant cardiomyopathy.12
ATTR-PN is progressive and irreversible, and early diagnosis is critical to improve outcomes.12
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PP-UNP-IRL-0176. January 2023