No abstract

Wild type transthyretin amyloidosis (ATTRwt) affects a number of target organs, most commonly the heart. Over the last years, autopsy findings revealed that the lungs are involved in the pathological process more frequently than diagnosed in premortem cases. Due to the nonspecific nature of ATTRwt clinical manifestations and the presence of multiple concomitant conditions in elderly people, the majority of patients are diagnosed at a late stage or the disease is overlooked. As a result, ATTRwt has emerged as a previously underestimated cause of morbidity and mortality in the older age group. This article presents a clinical case report describing an 88-year-old female patient with generalized transthyretin amyloidosis characterized by predominant cardiac and pulmonary involvement. The paper elucidates the difficulties associated with premortem diagnosis of this type of amyloidosis which include the absence of amyloid deposits in biopsy specimens from the rectum and subcutaneous fat. The specific information in this case report is focused on the discrepancy between clinical and autopsy diagnosis. Keywords: wild type transthyretin amyloidosis, cardiac amyloidosis, pulmonary amyloidosis, senile amy-loidosis, chronic heart failure

Introduction. Amyloidosis is a disease characterized by extracellular deposition of insoluble fibrils composed of an abnormal protein, amyloid. This protein builds up in various tissues and organs and interferes with their function leading to atrophy and sclerosis. Amyloidosis is usually a systemic disease. However, there are case reports of localized amyloidosis. Localized laryngeal amyloidosis is a rare condition accounting for approximately 15% of localized amyloidosis. The aim of the research was to describe morphological features of localized laryngeal amyloidosis. Materials and methods. We analyzed clinical findings, biopsy, and surgical specimens of 6 patients with localized laryngeal amyloidosis. Amyloid deposits were detected in tissue sections with Congo red stain with polarized light microscopy. We performed immunohistochemical analysis with monoclonal and polyclonal antibodies to detect different amyloid types. Results. Laryngeal amyloidosis was diagnosed in 4 male and 2 female patients aged from 44 to 62 (the mean age was 54 years). We found amyloid deposits in the interstitial spaces and tumor-like masses; in polarized light, amyloid showed a bright apple-green birefringence. Inflammatory cell infiltrate and multinucleated giant cells were visualized in most cases. Based on the immunohistochemical typing results, 4 patients had AL-kappa amyloidosis and 2 patients were diagnosed with AL-lambda amyloidosis. The disease recurrence was reported in 2 cases. Conclusion. In the head and neck area, the larynx is the most common site affected by localized amyloidosis. AL-kappa amyloidosis prevailed in our study, most of them being in men. In view of high recurrence rates, a long-term follow-up is needed after the amyloid deposit excision. Keywords: amyloidosis, larynx, amyloidoma, localized amyloidosis, immunohistochemistry