A uncommon and deadly genetic illness called familial amyloid cardiomyopathy (FAC), also known as hereditary or familial amyloidosis, is characterized
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A uncommon and deadly genetic illness called familial amyloid cardiomyopathy (FAC), also known as hereditary or familial amyloidosis, is characterized by the buildup of aberrant amyloid proteins in the heart tissue, which impairs cardiac function. One copy of the faulty gene from either parent is enough to cause the disease because this condition is inherited in an autosomal dominant manner. Transthyretin (TTR), a protein that ordinarily helps transport thyroid hormone and retinol-binding protein, is typically affected by the genetic abnormalities linked to FAC. The protein can, however, misfold as a result of mutations, creating amyloid fibrils that build up in many organs, including the heart. The symptoms of FAC can include shortness of breath, exhaustion, an erratic heartbeat, swollen legs, and an intolerance to physical activity. These signs and symptoms develop as a result of the heart's inability to pump blood efficiently due to the presence of amyloid plaques. Amyloid buildup over time can cause cardiomyopathy, a condition in which the heart's ability to pump blood is diminished by the thickening and stiffening of the heart walls. Heart failure, which can be fatal, can develop from FAC if it is not addressed. Due to its comorbidity with other cardiac diseases, diagnosing FAC can be difficult. However, improvements in imaging methods have made it easier to spot amyloid deposits in the heart tissue, including nuclear scintigraphy, cardiac magnetic resonance imaging (MRI), and echocardiograms. The presence of particular mutations linked to FAC can be confirmed or identified in persons who are at risk thanks to genetic testing. FAC treatment options have changed throughout time. In the past, those with advanced disease and severe cardiac failure were thought to have only one option: heart transplantation. However, a number of medications have been created recently with the objective of stabilizing the misfolded protein or lowering its production. TTR stabilizers and gene silencing drugs are among them; they may decrease the disease's course and maybe enhance heart function. As a result of an aberrant buildup of amyloid proteins in the heart tissue, familial amyloid cardiomyopathy is a rare hereditary condition that impairs cardiac function. Heart failure is one of the symptoms that it can cause. It is inherited autosomally dominantly. The development of targeted medicines, early diagnosis using cutting-edge imaging and genetic testing, and new treatment options have opened up new possibilities for treating this disorder and enhancing the quality of life for people who are affected.
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