Primary systemic amyloidosis as a real diagnostic challenge – case study

Abstract

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.

Second Level Management of a Complex Case with Suspected Cardiac Amyloidosis: A Challenge for the Clinician

“…Tissue samples usually undergo red congo staining. It enables obtaining pathognomonic green birefringence of stained tissues examined under the polarization light in the tissue of the presence of amyloid deposits in the tissue specimen [22]. There is a poor interobserver reproducibility with false negatives and positives.…”

Clinical characteristics and diagnosis of a rare case of systemic AL amyloidosis: a descriptive study

“…This birefringence remains the histological gold standard for confirming the presence of amyloid in tissue [ 1 ]. The most frequent syndromes are heart failure, nephrotic syndrome, hepatomegaly and peripheral neuropathy [ 3 ]. A stepwise approach to diagnosis and staging of amyloidosis is critical and includes confirmation of amyloid deposition and identification of fibril type [ 4 ].…”

“…Hepatosplenomegaly owing to amyloid infiltration is seen at presentation in 9% of AA amyloidosis patients whereas liver failure is exceptionally rare [ 7 ]. The hereditary systemic amyloidosis usually presents with renal dysfunction in their 6th or 7th decade [ 3 , 8 ]. Subsequently our constellation finding was compatible with AL amyloidosis diagnosis.…”

Hiding in plain sight: a brain lesion in a patient with a history of colon and breast cancer

“…Importantly, it was reported that MRI may be sufficient in establishing the diagnosis without the need for brain biopsy 11. Indeed, finding a blood test for systemic amyloidosis will remain a diagnostic challenge 12…”