유전분증의 임상적 특징

Abstract

Background: Amyloidosis is a rare disease that amyloid fibril deposit in multiple organic tissue and decrease organic functions. Many case reports for amyloidosis were published but it is rare to domestic generalized report for amyloidosis. The purpose of this study is to evaluate the clinical manifestation and prognostic factors of amyloidosis.

Methods: From January, 1986 to December, 2002, Total 33 patients that diagnosed of amyloidosis, pathologically were included. The patients were divided to two groups in primary amyloidosis and secondary amyloidosis according to causative diseases.

Results: Thirty three patients were diagnosed to amyloidosis (men 19 patietns, women 14 patients) with mean age 54.8±13.2 years. Of the 33 patients, 21 patients had primary amyloidosis and 12 patients had secondary amyloidosis. The causes of amyloidosis were unknown 21 patients (67.7%), multiple myeloma 7 patients (16.1%), rheumatoid arthritis 3 patients (9.9%), Castleman’s disease 1 patient (3.2%), ankylosing spondylitis 1 patient (3.2%). Edema (33.3 %) and gastrointestinal symptoms (21.2%) are most common initial symptom. There are hepatomegaly (27.2%), hepatosplenomegaly (6.1%), splenomegaly (3.0%), hypotension (6.1%), hypertension (6.1%) and no abnormal finding (48.5%) on initial physical examination. Diagnostic biopsy sites were various according to amyloid deposit sites and biopsy performed at kidney (33.3%), heart+rectum (12.1%), heart (9.1%), liver (6.1%), rectum (6.1%), stomach (6.1%).

Conclusion: Edema is most common initial symptom of amyloidosis but various clinical symptoms are showed according to amyloid deposit site. Biopsy should be performed at suspicious amyloidosis patients of more than 50 years and early diagnosis and proper management of amyloidosis may be helpful to treatment and prognosis of amyloidosis patients.