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Systemic amyloidosis is a serious condition defined by the widespread accumulation of amyloid deposits throughout the body. Associated with the presence of anomalous antibodies produced in the bone marrow, systemic amyloidosis can jeopardize organ function contributing to organ failure. Treatment generally involves the use of medication, designed to inhibit antibody production and alleviate inflammation, and bone marrow transplantation. There is no cure for systemic amyloidosis.
A diagnosis of systemic amyloidosis is generally confirmed with a tissue biopsy. Frequently obtained under local anesthetic, from the skin or bone marrow, a biopsy usually demonstrates elevated amyloid proteins. As a precaution, urine and blood analysis may also be performed to rule out the presence of other conditions that may mimic amyloidosis.
Originating in the bone marrow, there is no known cause for the development of amyloidosis. Bone marrow naturally produces versatile antibodies, designed to fight foreign pathogens, that are re-assimilated once the threat is eliminated. In the case of amyloidosis, the antibodies produced are mutated and cannot be metabolized, or broken down. With nowhere else to go, the antibodies journey through the body via the bloodstream and transform into amyloid protein before settling in the soft tissues.
Widespread accumulation of amyloids can interfere with system and organ functions, especially when the nervous, respiratory, and digestive systems are affected. Since systemic amyloidosis affects several soft tissues simultaneously, individuals experience a variety of signs and symptoms. Individuals can become easily fatigued and experience discomfort, including numbness, and swelling in their extremities. When the digestive system is affected, individuals develop a decreased appetite, irregular bowel movements, and unintended weight loss. Additional signs can include arrhythmia, decreased kidney function, and difficulty breathing.
In the absence of a cure, treatment for systemic amyloidosis is centered on symptom management. A combination of drugs, including steroidal medications like dexamethasone, is generally administered to alleviate inflammation and discomfort. If amyloid accumulation significantly impairs organ function, organ failure can result. Complications, such as respiratory and kidney failure, are not uncommon and can necessitate additional, extensive treatment to slow the progression of symptoms.
Blood stem cell, usually harvested from one’s own stem cells, and bone marrow transplantations may also be performed in some cases. Transplantation allows for a replenishment of healthy antibodies to replace the mutated, diseased ones and inhibit the production of new, anomalous amyloids. Stem cell transplantation carries significant risk for complication and is not suitable for everyone.
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