According to Alnylam Pharmaceuticals, “Americans of Portuguese descent are disproportionately impacted by hereditary ATTR (hATTR) amyloidosis, a rare, rapidly progressive, and debilitating disease affecting multiple organs and tissues. These individuals have a high prevalence of the V30M variant, which is the most common of the more than 120 gene variants known to be associated with hATTR amyloidosis. The V30M variant is associated with nerve symptoms of numbness, tingling, and burning pain in hands and feet. People of Portuguese descent who develop the disease experience earlier onset symptoms, with 87 percent experiencing symptoms before age 40.
Watch this informative news segment featuring Dr. Anthony Geraci, a neurologist who specializes in managing hATTR amyloidosis. He is joined by Julio, who was diagnosed with the disease a few years ago, and his daughter and caregiver Renee. Together they explore the experience of living with this rare, genetic disease.”
The good news is there are FDA-approved treatments and clinical trials which may be helpful; however, the key is to get diagnosed as early as possible.
