Masterclass in Cardiac Amyloidosis: Disease Spectrum, Diagnosis and Management-Think Amyloid Patient Guide

Think Amyloid Patient Guide

Pdf Summary

Amyloidosis is a disease that occurs when abnormal proteins called amyloid build up in different organs of the body, interfering with their normal function. The symptoms of amyloidosis can vary depending on the type of protein and its location in the body. Common symptoms include hand, nerve, stomach, and heart problems. There are two common types of amyloidosis: light-chain amyloidosis (AL) and transthyretin amyloidosis (ATTR). AL amyloidosis occurs when excessive amounts of light-chain proteins clump together and deposit in various organs, especially the heart and kidney. If left untreated, it can result in heart failure. Chemotherapy can slow the disease process and extend life. ATTR amyloidosis occurs when transthyretin proteins form clumps of abnormal protein that deposit in various body organs, most commonly the heart. There are two types of ATTR amyloidosis: wild-type and hereditary. Wild-type ATTR amyloidosis is more common and occurs with aging, typically showing up later in life. Hereditary ATTR amyloidosis is passed down through generations and affects both men and women. Diagnosis of amyloidosis involves several tests, including blood and urine tests, ECG and ultrasound of the heart, MRI and nuclear scan of the heart, nerve and muscle tests, and DNA testing in some cases. Treatment of amyloidosis depends on the type and aims to reduce symptoms and delay disease progression. Chemotherapy is generally required for AL amyloidosis, while therapy for ATTR amyloidosis focuses on controlling symptoms and several drugs have been approved for its management. These drugs work by reducing production of the abnormal protein, stabilizing it to prevent further harm, and removing the amyloid protein already deposited in the body. Early diagnosis is important, and patients should talk to their doctors if they believe they may be at risk or have symptoms of amyloidosis in order to be referred to a specialist.

Keywords

amyloidosis

amyloid proteins

light-chain amyloidosis

transthyretin amyloidosis

heart failure

chemotherapy

diagnosis tests

wild-type ATTR

hereditary ATTR

disease progression