Early signs and symptoms of hATTR amyloidosis may include weakness and changes in sensation, especially in the feet, carpal tunnel syndrome in the wrist, sexual dysfunction, bladder issues, and persistent fatigue, among others.
Navigating hATTR amyloidosis diagnosis: A roadmap to health and wellness
Finding your way through a diagnosis of hereditary transthyretin (hATTR) amyloidosis can be tricky. As a rare disease, hATTR amyloidosis may be first misdiagnosed as a more common disorder or there can be a delay in confirming the diagnosis. If you or a loved one is suspected of having the disease or you have just been diagnosed, the following information may help you as you navigate this crucial time and determine the best path forward.
The gold standard for diagnosing hATTR amyloidosis is genetic sequencing that looks for disease-causing mutations in the TTR gene. Other tests may include biopsies, nerve conduction tests, scintigraphy, blood tests, and eye assessments.
Some strategies for managing hATTR amyloidosis on a daily basis include taking medications regularly, making lifestyle changes, using mobility aids, and getting emotional support.
Several staging systems are in place for familial amyloid polyneuropathy (FAP), but the most widely used for clinical practice is the Coutinho staging system, which was established in the 1980s.
Jaime Christmas, caregiver to her late husband, Aubrey, who had hATTR amyloidosis, discusses her experience and provides some insight on how caregivers can best cope with the disease.
Eye issues are common in hATTR amyloidosis. They can range from dry eyes to sight-threatening complications such as glaucoma. Symptoms can vary from person to person.