Gastroenterology Unit, Department of Biomedical and Clinical Sciences, University of Milan, Milano, Italy
Gastroenterology Unit, Department of Biomedical and Clinical Sciences, University of Milan, Milano, Italy.
BMJ Case Rep. 2023 Oct 16;16(10):e256673. doi: 10.1136/bcr-2023-256673.
Amyloidosis includes a heterogeneous group of diseases caused by the extracellular deposition of insoluble fibrillar proteins, leading to multiple organ dysfunction and a poor life expectancy. In the early stages of amyloidosis, gastrointestinal (GI) symptoms are uncommon. We describe a rare case of hereditary transthyretin amyloidosis (ATTRv) with involvement of the heart, nervous system and GI tract. A man in his 60s was hospitalised due to chronic diarrhoea, orthostatic hypotension, malabsorption and weight loss. An organic origin for the diarrhoea was suspected, but the most common causes were ruled out. The review of GI biopsies and an abdominal fat aspirate confirmed the diagnosis of amyloidosis. The diagnosis of ATTRv amyloidosis with GI presentation is challenging, especially in the early stages, and misdiagnosis is common. The recent approval of therapies emphasises the importance of early diagnosis to prevent irreversible organ damage.
淀粉样变性症包括一组由不溶性纤维状蛋白质细胞外沉积引起的异质性疾病，导致多器官功能障碍和预期寿命缩短。在淀粉样变性症的早期阶段，胃肠道（GI）症状并不常见。我们描述了一例罕见的遗传性转甲状腺素蛋白淀粉样变性症（ATTRv），涉及心脏、神经系统和胃肠道。一名 60 多岁的男子因慢性腹泻、直立性低血压、吸收不良和体重减轻而住院。腹泻的器质性病因被怀疑，但最常见的病因已被排除。对胃肠道活检和腹部脂肪抽吸的检查结果证实了淀粉样变性症的诊断。以胃肠道表现为特征的 ATTRv 淀粉样变性症的诊断具有挑战性，尤其是在早期阶段，误诊很常见。最近批准的治疗方法强调了早期诊断的重要性，以防止不可逆转的器官损伤。
