以消化道病变和心肌肥厚为主的芬兰型家族性淀粉样变性1例

A case of Finnish-type familial amyloidosis primarily characterized by gastrointestinal tract lesions and myocardial hypertrophy

摘要

淀粉样变性是一种由罕见蛋白折叠异常引起的全身性疾病，临床表现缺乏特异性，易导致误诊。本文报道1例以消化道病变和心肌肥厚为主的淀粉样变性患者。该患者以胸痛、双下肢水肿、纳差为主要临床症状。查体可见巨舌、皮肤病变。心电图肢体导联低电压、心脏彩超示心肌增厚，肠镜活检刚果红染色阳性，基因检测显示凝溶胶蛋白（GSN）基因 c.1253A＞G(p.Y418C) 变异，考虑芬兰型家族性淀粉样变性。该病例提示，淀粉样变性可累及多器官，临床表现隐匿，病理活检刚果红染色是确诊的金标准；临床工作中需提高警惕，尽早进行活检以明确诊断，从而改善患者预后。

Abstract

Amyloidosis is a systemic disease caused by rare abnormal protein folding. Due to the non-specific clinical manifestations, this disease is prone to misdiagnosis. This article reports one case of amyloidosis predominantly complicated with gastrointestinal lesions and myocardial hypertrophy. The main clinical symptoms of the patient included chest pain, bilateral lower extremity edema, and poor appetite. Physical examination revealed macroglossia and cutaneous lesions. Electrocardiogram showed low voltage in limb leads, and cardiac ultrasound indicated myocardial thickening. Colonoscopy biopsy presented positive Congo red staining. Genetic detection identified the variant c.1253A＞G (p.Y418C) of thegelsolin (GSN) gene, and the patient was finally diagnosed with Finnish-type familial amyloidosis. This case suggests that amyloidosis can involve multiple organs with insidious clinical manifestations. Congo red staining of pathological biopsy is the gold standard for definite diagnosis. Clinicians should raise awareness of this disease and perform biopsy as early as possible to confirm the diagnosis, so as to improve the prognosis of patients.

关键词

心肌肥厚 / 芬兰型家族性淀粉样变性 / 凝溶胶蛋白 (GSN) 基因突变

Key words

myocardial hypertrophy / Finnish familial amyloidosis / gelsolin (GSN) gene mutation

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