Appalachian Type Amyloidosis
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📋Overview
Appalachian Type Amyloidosis is a genetic condition characterized by the abnormal accumulation of transthyretin protein amyloid fibrils within the body's tissues. Historically identified in populations residing in the Appalachian region of the United States, this condition is now clinically recognized as a variant of hereditary transthyretin (hATTR) amyloidosis.
The disorder involves genetic mutations that cause the transthyretin protein to misfold and form systemic deposits. While the legacy term reflects its historical regional context, modern medical literature utilizes the more precise clinical designation of hATTR amyloidosis to describe this pathology.
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