Soto Cuauhtemoc Jeffrey, Addi Palle Lokeshwar Raaju, Berhanu Mefthe, Negassi Yordanos G, Batool Saima, Holder Shaniah S
Internal Medicine, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA.
Surgery, Kamala Children's Hospital, Chennai, IND.
Cureus. 2023 Jul 5;15(7):e41416. doi: 10.7759/cureus.41416. eCollection 2023 Jul.
Celiac disease (CD) is a chronic autoimmune disorder characterized by an immune-mediated response to gluten, resulting in small intestinal mucosal damage. While gastrointestinal (GI) symptoms are commonly associated with CD, atypical presentations can pose diagnostic challenges, particularly when hematological abnormalities are the primary manifestation. We report a case of a 52-year-old female patient who presented with paraesthesia, numbness in her hands and feet, marked thinness, extreme thrombocytosis, severe anemia, and mild electrolyte imbalance. Physical examination was unremarkable, except for the notable thinness. GI symptoms were absent, and there was no family history of gastroenterological diseases. Diagnostic evaluations, including serological tests and duodenal biopsy, confirmed the diagnosis of CD with grade 4 Marsh 3C classification. This case emphasizes the significance of considering CD as a potential cause for atypical hematological manifestations, such as extreme thrombocytosis secondary to severe anemia. Prompt recognition and appropriate management, including adherence to a gluten-free diet, can lead to symptom improvement and resolution of hematological abnormalities. It is crucial for healthcare professionals to recognize and be familiar with these atypical presentations to promote early diagnosis and enhance patient outcomes.
乳糜泻(CD)是一种慢性自身免疫性疾病,其特征为对麸质产生免疫介导反应,导致小肠黏膜损伤。虽然胃肠道(GI)症状通常与CD相关,但非典型表现可能带来诊断挑战,尤其是当血液学异常为主要表现时。我们报告一例52岁女性患者,她出现感觉异常、手脚麻木、明显消瘦、极度血小板增多、严重贫血以及轻度电解质失衡。体格检查无异常,仅消瘦明显。无GI症状,且无胃肠病家族史。包括血清学检查和十二指肠活检在内的诊断评估确诊为4级马什3C分类的CD。该病例强调了将CD视为非典型血液学表现(如严重贫血继发的极度血小板增多)潜在病因的重要性。及时识别并进行适当管理(包括坚持无麸质饮食)可使症状改善并解决血液学异常。医疗保健专业人员认识并熟悉这些非典型表现对于促进早期诊断和改善患者预后至关重要。