Department of Medicine V, Amyloidosis Center and Division of Rheumatology, University of Heidelberg , Heidelberg , Germany .
Amyloid. 2015 Mar;22(1):1-7. doi: 10.3109/13506129.2014.980942. Epub 2014 Nov 7.
To identify risk factors for serum amyloid-A (AA) amyloidosis in patients living in Germany.
Clinical and genetic data were obtained from 71 patients with AA amyloidosis. SAA1 genotypes were analyzed in 231 individuals. Control groups comprised 45 patients with long-standing inflammatory diseases without AA amyloidosis and 56 age-matched patients without any inflammatory disease.
The most frequent underlying diseases of AA amyloidosis were familial Mediterranean fever (FMF) (n = 24, 34%) and inflammatory rheumatic diseases (n = 30, 42%). Patients without any known underlying disease (n = 11, 16%) were considered as having idiopathic AA amyloidosis. Patients with FMF were significantly younger at disease onset and younger at diagnosis of AA amyloidosis compared with patients with rheumatic diseases. Patients with idiopathic AA amyloidosis were older than patients with definite rheumatic diseases. Patients with FMF and high penetrance MEFV gene mutations had a relative risk of 1.73 for AA amyloidosis. Patients with FMF or a rheumatic disease and the SAA1 α/α genotype had a relative risk of 4.86 and 2.53, respectively, for developing an AA amyloidosis. The prevalence of this risk genotype was 36% in German patients without an inflammatory disease, 92% in German patients with AA amyloidosis and 100% in German patients with idiopathic AA amyloidosis.
Risk factors for AA amyloidosis are the presence of a hereditary autoinflammatory or chronic rheumatic disease, elevated C-reactive protein and SAA serum levels, a long delay of a sufficient therapy, an advanced age and the SAA1α/α genotype.
确定居住在德国的患者发生血清淀粉样蛋白-A（AA）淀粉样变性的风险因素。
从 71 例 AA 淀粉样变性患者中获取临床和遗传数据。在 231 名个体中分析 SAA1 基因型。对照组包括 45 例无 AA 淀粉样变性的长期炎症性疾病患者和 56 名无任何炎症性疾病且年龄匹配的患者。
AA 淀粉样变性最常见的基础疾病为家族性地中海热（FMF）（n=24，34%）和炎症性风湿性疾病（n=30，42%）。无任何已知基础疾病的患者（n=11，16%）被认为患有特发性 AA 淀粉样变性。与风湿性疾病患者相比，FMF 患者的发病年龄和 AA 淀粉样变性的诊断年龄均明显更年轻。特发性 AA 淀粉样变性患者的年龄大于明确的风湿性疾病患者。具有高外显率 MEFV 基因突变的 FMF 患者发生 AA 淀粉样变性的相对风险为 1.73。患有 FMF 或风湿性疾病且携带 SAA1α/α 基因型的患者发生 AA 淀粉样变性的相对风险分别为 4.86 和 2.53。这种风险基因型在无炎症性疾病的德国患者中的流行率为 36%，在德国 AA 淀粉样变性患者中为 92%，在德国特发性 AA 淀粉样变性患者中为 100%。
AA 淀粉样变性的风险因素为存在遗传性自身炎症性疾病或慢性风湿性疾病、C 反应蛋白和 SAA 血清水平升高、充分治疗的延迟时间较长、年龄较大以及 SAA1α/α 基因型。
