Amyloidosis clinical presentation

This chapter provides an overview of the pathophysiologic mechanisms of glomerular injury and the clinical presentations of glomerulonephritis. The treatment approach for the common forms of glomerulonephritis are also discussed. Although diabetes mellitus and amyloidosis are important secondary causes of glomerular diseases, the scope of this chapter is limited to the primary causes of glomerulonephritis. 

Heterozygous carriers of functionally relevant mutations usually present with HDL cholesterol levels that are frequently below the fifth percentile. As would be expected, apoA-I levels are also frequently below the fifth percentile (i.e., < 1.05 g/1 and < 1.1 g/1 in Caucasian men and women, respectively). In most cases, heterozygous carriers of apoA-I variants do not present with specific clinical symptoms. An important exception are some structural apoA-I variants with amino acid substitutions in the amino terminus, which have been detected in patients with familial amyloidosis of the liver, the intestine, the kidney, the heart, peripheral nerves, and in the skin. In addition, some apoA-I variants like apoA-I L178P or L159P have been associated with increased risk of premature coronary heart disease or enhanced progression of carotid intima media thickness, whereas others did not show this association, or were even claimed to have reduced cardiovascular risk and advocated as possible agents for the treatment or prevention of atherosclerosis (notably apoA-I R173CMiiano) [22,43,53]. 

Clinically, amyloidosis is classified (omitting some rare forms) into five main groups (1) primary amyloidosis, (2) amyloidosis associated with multiple myeloma, (3) secondary amyloidosis associated with inflammatory or infectious diseases, (4) a form associated with aging, and (5) familial amyloidosis. Increased knowledge of the chemical structure of the deposits has led to a revised classification that takes into consideration the type of amyloid protein present. Tins classification is used in Table 20-14. 

This chapter (27 pages) presents the modern concepts in the pathophysiologic mechanisms of vitreous diseases, and in the clinical conditions involving the vitreous (detachment, macular holes and membranes, diabetes, proliferative vitreoretinopathy, hyalosis, amyloidosis). Aspects such as separation of the vitreous from the retina and traction of the vitreous by hypocellular gel contraction are explained according to the most recent findings. 

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