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Cardiology. Familial amyloid cardiomyopathy (FAC), or transthyretin amyloid cardiomyopathy (ATTR-CM) results from the aggregation and deposition of mutant and wild-type transthyretin (TTR) protein in the heart. [1] TTR is usually circulated as a homo-tetramer—a protein made up of four identical subunits—however, in FAC populations, TTR ...
Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis abbreviated also as ATTR (hereditary form), or Corino de Andrade's disease, [ 1] is an autosomal dominant [ 2] neurodegenerative disease. It is a form of amyloidosis, and was first identified and described by Portuguese ...
Amyloidosis is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in tissue. [ 4] There are several non-specific and vague signs and symptoms associated with amyloidosis. [ 5] These include fatigue, peripheral edema, weight loss, shortness of breath, palpitations, and feeling faint with standing. [ 5]
Wild-type transthyretin amyloid accumulates mainly in the heart, where it causes stiffness and often thickening of its walls, leading consequently to shortness of breath and intolerance to exercise, called diastolic dysfunction. Excessively slow heart rate can also occur, such as in sick sinus syndrome, with ensuing fatigue and dizziness.
Cardiac amyloidosis is a subcategory of amyloidosis where there is depositing of the protein amyloid in the cardiac muscle and surrounding tissues. Amyloid, a misfolded and insoluble protein, can become a deposit in the heart's atria, valves, or ventricles. These deposits can cause thickening of different sections of the heart, leading to ...
AL amyloidosis. Amyloid light-chain ( AL) amyloidosis, also known as primary amyloidosis, is the most common form of systemic amyloidosis. [1] The disease is caused when a person's antibody -producing cells do not function properly and produce abnormal protein fibers made of components of antibodies called light chains.
hormone therapy, antifungals, immunosuppression. Autoimmune polyendocrine syndrome type 1 ( APS-1 ), is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular syndrome). It causes the dysfunction of multiple endocrine glands due to autoimmunity. It is a genetic disorder, inherited in autosomal recessive fashion due to a defect ...
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