What causes hereditary ATTR amyloidosis?

1. What Causes Hereditary ATTR Amyloidosis? More often than not, ATTR amyloidosis is a type of systematic amyloidosis caused due to amyloid deposits of a protein known as transthyretin (TTR). When this uncommon condition arises in the human body by hereditary factors, it is called hATTR amyloidosis. hATTR amyloidosis is a critical condition but can be treated. Yes, it is an extremely rare disease and can be really difficult to diagnose. Misdiagnosis is common and sometimes, it takes patients years to show the symptoms initially to get the right hATTR amyloidosis diagnosisand begin with the treatment. It has been noted that people of Portuguese descent are at a much higher risk of inheriting this uncommon disease. This can be considered as the first step towards self-diagnosing this disease. If you come from a line of Portuguese ancestry and anyone in your close family members have been diagnosed with it before, then there is a high risk of you getting it too. Several common symptoms of hATTR amyloidosis are: tingling/numbness in the hands and wrists, burning sensation, and gastrointestinal problems such as vomiting and nausea. hATTR amyloidosis can be lethal at times without an early hATTR amyloidosis diagnosis. Additionally, if your body shows any of these symptoms for a prolonged time, genetic testing is a pivotal step in getting diagnosed properly. The treatment of amyloidosis might slow down the production of abnormal protein, thus lowering the disease’s progression. There are different treatment options that help people manage their symptoms. It generally affects more than one organ, which makes it beneficial to work with a team of specialists to curate a personalized treatment plan.

2. There are various treatments across different regions of the world where there is a big number of the Portuguese population. Inotersen solution for subcutaneous injection is mainly suggested for the treatment of stage 1 and 2 polyneuropathies among adult patients with hereditary amyloidosis and has definitely shown great results in treating the condition to a large extent.