Primary amyloidosis (AL) is a systemic disorder related to a plasma cell dyscrasia found in the bone marrow (National Organization for Rare Disorders [NORD], 2016). AL consists of multiple organ involvement, which can cause a delay in accurate diagnosis of the disorder (Jerzykowska et al., 2014). AL is the most common and most severe form of amyloidosis due to its ability to cause multiple organ dysfunction and failure according to Desport et al. (2012). Rarely, AL is localized instead of systemic. Nevertheless, this disorder can quickly wreak havoc on the body. It is important for providers to diagnosis this disorder swiftly in order to begin treatment as quickly as possible, for, depending on affected organs, the prognosis of untreated AL is about six to 24 months (Jerzykowska et al., 2014).
Incidence and Impact
According to NORD (2016), about 4000 new cases of AL occur each year in the United States, but it is believed to be higher due to misdiagnosis of patients with AL. AL more commonly affects individuals aged 50 to 65 years, but it has been seen in clients as young as 20 years of age (NORD, 2016). Desport et al. (2012) estimated the incidence of AL in western countries to be around nine per one million of inhabitants annually, and there are marginally more men who are diagnosed with this disorder. This disorder has a high mortality rate, for about half of patients who are diagnosed with AL die within one year after diagnosis (Kumar et al., 2011). Unfortunately, the impact and costs AL has on society has not been studied recently, and it is unclear what impact AL has on society.
Pathophysiology and Recent Research Findings
From faulty protein folding, amyloid light chains are formed instead of the intended kapp...
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...oid arthritis (NORD, 2016). A typical sign of AL that involves the joints is the “should pad” sign, which occurs from deposition of amyloid into the tendons. When they infiltrate muscle groups, amyloid deposits cause muscle hypertrophy, which cause a “pseudo-athletic” muscular characteristic. If providers see this muscular appearance, Desport et al. (2012) suggests that the cardiac system is also involved. Glandular involvement can cause deficiencies in the given glands affected, and glandular swelling may be present (Desport et al., 2012).
Differential Diagnoses – Apply, Explore, Techniques
According to Desport et al. (2012), “the diagnosis of amyloidosis is based on the finding, by light microscopic examination, of amorphous extracellular Congo red positive deposits, which display characteristic dichroism and apple green birefringence under polarised light” (p.58).
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