Vacková Zuzana
Vnitr Lek. 2020 Spring;66(2):116-120.
Celiac disease is a lifelong autoimmune disorder that occurs in genetically predisposed people when consuming gluten. Its prevalence is around 1% of the population with about twice higher proportion of women. Celiac disease is one of the most common causes of malabsorption, however, its manifestations can be quite diverse - from completely asymptomatic to fully developed malabsorption syndrome. Extraintestinal manifestations are a common finding in adults. The gold standard of diagnosis is the serological detection of specific antibodies (the serum tissue transglutaminase IgA antibodies) in combination with a typical histological finding from a duodenal biopsy. Causal treatment is a lifelong gluten-free diet. Strict adherence to gluten-free diet will reduce the risk of serious complications (intestinal T-cell lymphoma). In the following case report we present a case of a 58-year-old patient, who have been diagnosed with celiac disease at this age based on non-classical symptoms. Specifically, these were multiple pathological fractures from metabolic bone disease due to malabsorption of calcium and vitamin D and subsequent secondary hyperparathyroidism.
乳糜泻是一种终身性自身免疫性疾病,发生于具有遗传易感性的人群在摄入麸质时。其患病率约为总人口的1%,女性比例约高出一倍。乳糜泻是吸收不良最常见的原因之一,然而,其表现可能非常多样——从完全无症状到完全发展的吸收不良综合征。肠外表现在成年人中很常见。诊断的金标准是血清学检测特定抗体(血清组织转谷氨酰胺酶IgA抗体)并结合十二指肠活检的典型组织学发现。病因治疗是终身无麸质饮食。严格坚持无麸质饮食将降低严重并发症(肠道T细胞淋巴瘤)的风险。在以下病例报告中,我们介绍了一名58岁患者的病例,该患者在这个年龄基于非典型症状被诊断为乳糜泻。具体而言,这些症状是由于钙和维生素D吸收不良以及随后的继发性甲状旁腺功能亢进导致的代谢性骨病引起的多处病理性骨折。