Primary amyloidosis (AL) is a rare variety of
plasma cell dyscrasia, the diagnosis of which is often difficult to establish. Pathogenesis of
amyloidosis involves extracellular deposition of insoluble
protein fibrils in tissues, leading to insufficiency of affected organs. According to various sources, mean survival rate of patients with
primary amyloidosis ranges from 12 to 24 months, making
primary amyloidosis a disease with a very poor prognosis. Survival rate is significantly lowered in case of cardiac manifestation of
amyloidosis (about 6 months survival in untreated patients). In recent years a considerable progress in AL treatment has been observed. Nowadays we are able not only to delay progression of
amyloidosis, but also to improve the function of the affected organs. Unfortunately as first signs and symptoms of AL are usually nonspecific, the diagnosis of AL is often delayed, resulting in late introduction of optimal
therapy. There are many diagnostic tests which can be used in diagnostic process of
amyloidosis, i.e. electrophoresis, serum and urine immunofixation or affected organs and bone marrow biopsy. On establishing the diagnosis in a patient with suspected
amyloidosis it should be remembered that particular diagnostic methods vary considerably in sensitivity. The aim of this paper is to present a case report of a 27-year-old patient with
primary amyloidosis focusing on diagnostic aspect of this condition. On the basis of this case, the authors would like to emphasize the value of precise diagnostic process, with immunological techniques playing undoubtedly a crucial role.