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).
Worldwide Hotspots of Hereditary ATTR Amyloidosis (ATTRv)
CRISPR/Cas9 – ATTR Clinical Trial Update
Per the National Institute of Health, “One of the most promising areas of research in recent years has been gene editing, including CRISPR/Cas9, for fixing misspellings in genes to treat or even cure many conditions.” In this piece we provide a clinical trial update for transthyretin (TTR) amyloidosis using this technology.
Carpal Tunnel & Amyloidosis – An Update
In the amyloidosis community, we are quickly learning that carpal tunnel syndrome can be one of the earliest symptoms/indicators of amyloidosis, sometimes presenting up to a decade before diagnosis. In addition, it is suspected that amyloidosis is not as rare as we once thought. Interestingly, carpal tunnel release surgery is helping to illustrate just that.