A diagnosis of hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) between the ages of 30 and 60 can be profoundly life-altering. The gravity of the disease coincides with a period traditionally devoted to building, enjoying, or securing one’s future, amplifying the impact. These decades are often defined by marriage, raising…
The number of people diagnosed with transthyretin amyloidosis (ATTR) in the U.S. is climbing, a surge researchers attribute to better medical awareness and more advanced diagnostic tools. This increase spans both new diagnoses and the total number of people living with the condition, which includes hereditary ATTR with…
Nerve ultrasound — a scan that uses high-frequency sound waves to create real-time images of the body’s nerves — may be used to monitor signs of polyneuropathy, or widespread damage, in people who carry disease-causing TTR mutations but have not yet developed symptoms of hereditary transthyretin amyloidosis with polyneuropathy…
Adults who carry the Val30Met, or V30M, mutation — the most common cause of early-onset hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) — often develop heart rhythm problems early on, a study shows. Although V30M carriers may be less likely to have cardiomyopathy, or heart muscle disease, those who do experience…
Discussion
Hereditary diseases not only affect the body, but they also ripple through families, shaping relationships, identities, and mental health. I know this reality all too well. My late husband, Aubrey, was diagnosed in 2013 with hereditary ATTR amyloidosis, a genetic disorder caused by mutations in the TTR gene.
RNA-targeted therapies — ones that zero in on molecules acting as messengers for genetic information in cells — are safe and effective at slowing the progression of neurological symptoms and improving quality of life among people with hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN). Those are the findings of a…
Becoming educated and informed about FAP is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of our columnists’ words of wisdom to help you along on your FAP journey.
There is no cure for FAP yet, but there are treatments that can help manage the disease. Learn more about the approved and experimental therapies here.
