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Amyloidosis is a group of diseases in which abnormal proteins, ... a susceptibility to bleeding with bruising around the eyes, termed "raccoon-eyes".
Amyloid purpura is a condition marked by bleeding under the skin in some individuals with amyloidosis. [1] Its cause is unknown, but coagulation defects caused by amyloid are thought to contribute. Presentation
The disorder is primarily associated with eye, skin, and cranial nerve symptoms with the onset of symptoms appearing between the thirties and fifties. [3] The most common characteristic is type II lattice corneal dystrophy with other signs such as polyneuropathy, dermatochalasis, open-angle glaucoma, bilateral progressive facial paralysis, cutis laxa, skin fragility with ecchymosis, facial ...
To date, 37 human proteins have been found to form amyloid in pathology and be associated with well-defined diseases. [2] The International Society of Amyloidosis classifies amyloid fibrils and their associated diseases based upon associated proteins (for example ATTR is the group of diseases and associated fibrils formed by TTR). [3]
During an eye examination, the doctor sees these deposits in the stroma as clear, comma-shaped overlapping dots and branching filaments, creating a lattice effect. Over time, the lattice lines will grow opaque and involve more of the stroma. They will also gradually converge, giving the cornea a cloudiness that may also reduce vision.
It’s also smart to keep an eye out for “abrupt color changes,” Gornik points out. ... these symptoms can indicate cardiac amyloidosis, Zoghbi says. “It’s a problem of protein misfolding ...
AL amyloidosis is caused by the deposition of abnormal antibody free light chains. The abnormal light chains are produced by monoclonal plasma cells, and, although AL amyloidosis can occur without diagnosis of another disorder, it is often associated with other plasma cell disorders, such as multiple myeloma and Waldenström's macroglobulinemia. [6]
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