Amyloidosis (am-uh-loy-doh-sis) is the name for a group of rare, serious diseases that occur when an abnormal protein called amyloid builds up on organs, nerves and tissues. As the amyloid accumulates, it interferes with their normal function.
Everyone’s experience with Amyloidosis and other types of hereditary amyloidosis will be different. We focus on ATTR Amyloidosis which has two types, wild type and hereditary.
All types of amyloidosis begin with the letter A, which, no doubt you’ve already expected, stands for amyloidosis, followed by one or more other letters which identify the particular amyloid protein. In our case it’s TTR, which stands for the transthyretin (trans-thigh-re-tin) protein.
Thr60Ala is one type of ATTR amyloidosis with a specific origin in Donegal, in the north west of Ireland. Although Donegal Amy is classed as a rare genetic disease, experts have estimated that 1% of the population of North-West of Donegal may carry the faulty gene. Though not everyone who carries the gene will develop the condition.
Most people have never heard of ATTR amyloidosis until they or their family member of friend is diagnosed. Many doctors know little about the condition. Patients, friends, family and carers often have many questions. We hope that having this information accessible will help to inform and allay worry as much as possible.
The disease is caused by abnormal depositing and accumulation of proteins in the tissues of the body. Amyloid deposits are primarily made up of protein fibres known as amyloid fibrils. These amyloid fibrils are formed when normally soluble body proteins aggregate (clump together) and then remain in the tissues instead of safely going away. It is now known the condition is multi-systemic, affecting the heart, the peripheral nervous system and the autonomic nervous system.
Next chapter: on symptoms and diagnosis of amyloidosis, click here to read on →