Amyloidosis in India

What is Amyloidosis ?

Amyloidosis is a rare disease that results from accumulation of inappropriately folded proteins. These misfolded proteins are called amyloids. When proteins that are normally soluble in water fold to become amyloids, they become insoluble and deposit in organs or tissues, disrupting normal function.The type of protein that is misfolded and the organ or tissue in which the misfolded proteins are deposited determines the clinical manifestations of amyloidosis.

Signs and symptoms

The presentation of amyloidosis is broad and depends on the site of amyloid accumulation. The kidney and heart are the most common organs involved.

Amyloid deposition in the heart can cause both diastolic and systolic heart failure. EKG changes may be present, showing low voltage and conduction abnormalities like atrioventricular block or sinus node dysfunction. On echocardiography the heart shows restrictive filling pattern, with normal to mildly reduced systolic function.AA amyloidosis usually spares the heart.

Amyloid deposition in the kidneys can cause nephrotic syndrome, which results from a reduction in the kidney's ability to filter and hold on to proteins. The nephrotic syndrome occurs with or without elevations in creatinine and blood urea concentration, two biochemical markers of kidney injury. In AA amyloidosis the kidneys are involved in 91-96% of people,symptoms ranging from protein in the urine to nephrotic syndrome and rarely renal insufficiency.