Primary systemic amyloidosis. Early diagnosis and therapy can improve survival rates and quality of life.
Primary systemic amyloidosis is a rare disease with protean manifestations. Presence of nephrotic syndrome in the absence of diabetes and hypertension, cardiomyopathy in the absence of ischemia, restrictive cardiac defect, demyelinating polyneuropathy, or unexplained hepatomegaly should alert the physician to the possibility of amyloidosis. Initial steps in the diagnostic evaluation of patients with suspected amyloidosis include serum and urine immunoelectrophoresis and immunofixation studies. Demonstration of amyloid material on tissue biopsy (e.g., subcutaneous fat) is required for diagnosis. Availability of effective treatments has improved the outlook of patients with primary systemic amyloidosis. Early diagnosis is critical to optimizing the chances of effective therapy.
Roy
Archana
A
Division of Hospital Medicine, Mayo Clinic Jacksonville, Florida 32224, USA. roy.archana@mayo.edu
Roy
Vivek
V
D000368:Aged; D000686:Amyloidosis / Q000175:diagnosis / Q000188:drug therapy / Q000401:mortality; D000970:Antineoplastic Agents / Q000627:therapeutic use*; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D005260:Female; D006801:Humans; D007122:Immunoelectrophoresis; D007147:Immunoglobulin Light Chains / Q000378:metabolism*; D007668:Kidney / Q000473:pathology; D011379:Prognosis; D011788:Quality of Life; D015996:Survival Rate
D000970:Antineoplastic Agents; D007147:Immunoglobulin Light Chains