Amyloidosis is a multi-system disease, making diagnosis challenging. In this informative patient guide, the American Society of Nuclear Cardiology (ASNC) discusses common symptoms, types of amyloidosis, red flags to be aware of, diagnostic tests and available treatment options.
Hereditary Amyloidosis
Multidisciplinary Care for Cardiac Amyloidosis Patients
Multi-systemic diseases such as amyloidosis are not only complex to diagnose, but also complex in the treatment and ongoing patient care. It takes a village. In this seminal piece, the American College of Cardiology (ACC) provides an Expert Consensus Decision Pathway on Comprehensive Multidisciplinary Care for the Patient With Cardiac Amyloidosis. An absolute must-read for cardiologists and other specialties such as neurology, gastroenterology, nephrology and hematology.
Hereditary Amyloidosis: The V122I Variant
Despite the evidence that a meaningful 3-4% of the US Black population of West African ancestry likely carries the V122I genetic mutation, hereditary TTR amyloidosis remains significantly underdiagnosed and undertreated in this population. Amyloidosis can be devastating to both patients and their families. Increased awareness of the disease, availability of testing, and FDA-approved therapies are slowly beginning to shift this dynamic. However, there is still much work to be done to close the gap between diagnosed cases and the population estimated to be affected.
Hereditary Amyloidosis: The T60A Variant
Hereditary transthyretin amyloidosis is caused by a genetic mutation which causes misfolding of transthyretin (TTR) proteins (which originate from the liver). There are over 100 genetic variants of hereditary amyloidosis. One such variant, called T60A, is the most common variant in Ireland (and the UK).
