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Since ceruloplasmin binds 85-95% of circulating copper and facilitates its safe transport, reduced synthesis means a higher fraction of "free" (non-ceruloplasmin-bound) copper in circulation
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The diagnostic process typically involves: Clinical history taking, focusing on symptoms (fatigue, neurological changes, dietary habits) Physical examination for signs of anaemia or neurological impairment Blood tests including full blood count, serum B12, and often folate levels Additional investigations such as intrinsic factor antibodies or parietal cell antibodies if pernicious anaemia is suspected For borderline results, additional tests like holotranscobalamin (active B12) may be considered NICE guidance recommends that treatment should commence based on clinical presentation if neurological symptoms are present, without waiting for laboratory confirmation, as delays can result in irreversible nerve damage
