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Rare Disease Link Found in Black Loyalist Descendants
25 Oct
Summary
- A rare disease linked to African ancestry affects heart and nerves.
- Genetic variant traced to 1700s Black Loyalists in Nova Scotia.
- Early diagnosis is now critical with new available treatments.
A rare and debilitating disease, hereditary transthyretin amyloidosis (hATTR), which impacts the nerves, heart, and digestive tract, has been identified with a genetic link to Black Loyalist descendants in Atlantic Canada. For 15 years, James Henry Brothers sought answers for his medical issues before a heart biopsy in 2013 led to his diagnosis. His family's journey highlights a potential widespread issue, with a genetic variant known as V142I traced back to ancestors who arrived in Nova Scotia in the 1700s.
This discovery, published in the Canadian Journal of Cardiology, suggests that many other Black Loyalist descendants in Atlantic Canada may carry this gene without knowing. The symptoms are often non-specific, overlapping with conditions like diabetes or aging, making diagnosis difficult. This underscores the critical role of family physicians in connecting the dots, especially when specialists operate in isolated systems. Early detection is now paramount, as treatments previously unavailable to James Brothers are now accessible, offering a way to slow the disease's advancement.
