Changing the Course of hATTR
Amyloidosis is a disorder resulting in an abnormal protein, amyloid, depositing in different organs throughout the body. The defective protein may build up in these organs and cause them to function improperly. It can be localized to one organ, or present systemically, affecting multiple regions of the body. There are three known amyloid syndromes: arthritis, neuropathy, and headache.
The disease is classified into several types, but hereditary ATTR amyloidosis (hATTR amyloidosis), a rare subtype of the disease that results from inherited mutations in the transthyretin (TTR) gene. This gene is responsible for the formation of TTR, a protein formed in the liver that transports the hormones thyroxine and retinol (vitamin A) throughout the body. To date, there are more than 120 different known mutations in the TTR gene. Each mutation is inherited in an autosomal dominant pattern, that is, only one parent must possess the mutated gene for a child to be affected.
One way to change the course of hATTR is to truly get down to an accurate and timely diagnosis. This, of course, helps put the patient on a path to treatment, managing the disease and living a fuller life sooner. An open and honest conversation may play an important role in identifying symptoms sooner, reaching an earlier diagnosis, and allowing them and their loved ones to work with healthcare professionals to manage the condition. One such case is that of CeCe.
In 2010, a cardiologist diagnosed CeCe with heart failure. He prescribed traditional heart failure medications, told her to go home and come back and in three months.