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ATTR amyloidosis

ATTR-CM: Don’t Assume it’s Wild-Type TTR Amyloidosis

May 25, 2023

Historically it has been thought that the majority of elderly cardiomyopathy patients diagnosed with amyloidosis, ATTR-CM, transthyretin amyloid cardiomyopathy, suffered from wild-type, a non-genetic version of the disease that most commonly affects but is not exclusive to men over seventy years of age. A study in the UK conducted from January 2010 through August 2022 was conducted to determine whether this was true. Here we summarize their fascinating findings.

Filed Under: Featured News, Uncategorized, What Is Amyloidosis Tagged With: Amyloid cardiomyopathy, amyloidosis, amyloidosis diagnosis, ATTR amyloidosis, ATTR-CM, ATTRwt, cardiomyopathy, diagnosing amyloidosis, wild-type amyloidosis

Hereditary Amyloidosis: The V122I Variant

March 30, 2023

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.

Filed Under: Featured News Tagged With: Amyloid cardiomyopathy, amyloidosis, amyloidosis diagnosis, ATTR amyloidosis, attrv, hATTR, hATTR-CM, heart failure, Hereditary Amyloidosis

Hereditary Amyloidosis: The T60A Variant

February 23, 2023

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).

Filed Under: Featured News Tagged With: amyloidosis, ATTR amyloidosis, attrv, hATTR, Hereditary Amyloidosis, Irish Variant, T60A

Worldwide Hotspots of Hereditary ATTR Amyloidosis (ATTRv)

January 26, 2023

Transthyretin Amyloidosis, or ATTR, is considered a single disease, however the diversity in its clinical presentation is staggering. In this blog, we’ll discuss some of the most common hereditary variants and how the disease manifestation differs around the world in documented hotspots.

Filed Under: Featured News, What Is Amyloidosis Tagged With: amyloidosis, amyloidosis variants, ATTR amyloidosis, attrv, global amyloidosis, hATTR, Hereditary Amyloidosis, worldwide amyloidosis

CRISPR/Cas9 – ATTR Clinical Trial Update

November 17, 2022

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.

Filed Under: Featured News, What Is Amyloidosis Tagged With: #crispr, Amyloid cardiomyopathy, amyloidosis, amyloidosis diagnosis, amyloidosis research, amyloidosis treatment, ATTR amyloidosis, ATTRwt, hATTR

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Recent News

  • ATTR-CM: Don’t Assume it’s Wild-Type TTR Amyloidosis
  • Helping Patients Find Their Voice
  • Hereditary Amyloidosis: The V122I Variant
  • FACES of Amyloidosis 2023
  • Hereditary Amyloidosis: The T60A Variant

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