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患有病因不明的血液学和神经学表现的老年患者:恶性贫血的诊断困境

Elderly Patient With Hematological and Neurological Manifestations of Undetermined Origin: A Diagnostic Dilemma of Pernicious Anemia.

作者信息

Ibraheem Anas, Nashwan Abdulqadir J, Yassin Mohamed A

机构信息

Internal Medicine, Imamein Kadhimein Medical City, Baghdad, IRQ.

Internal Medicine, Clinical Hematology, Al Karama Teaching Hospital, Baghdad, IRQ.

出版信息

Cureus. 2023 Aug 6;15(8):e43045. doi: 10.7759/cureus.43045. eCollection 2023 Aug.

DOI:10.7759/cureus.43045
PMID:37680425
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10480558/
Abstract

Pernicious anemia (PA) is a chronic inflammatory destructive disease of parietal cells of predominantly the gastric fundus. It leads to vitamin B (cobalamin) deficiency secondary to a deficiency of intrinsic factors. Despite the medical advances nowadays, diagnosing PA can be challenging. This report highlights a neglected case of PA with ongoing subacute combined degeneration of the cord (SCDS) in an elderly patient. An 86-year-old lady with multiple comorbidities was referred to the hematology outpatient clinic for refractory anemia for the last two months. At first, her general practitioner (GP) treated her as a case of anemia of chronic disease but without improvement. Her initial clinical assessment revealed hematological and neurological manifestations of undetermined origin, including global weakness, hypertonia, and hyperreflexia with sensory deficits, especially in the lower limbs. On investigation, the hemoglobin level was 9 g/dL with high indirect bilirubinemia and lactate dehydrogenase (LDH). Despite the normal mean corpuscular volume (MCV) and peripheral blood smear, positive anti-intrinsic factor and parietal cell antibodies tests were subsequently reported, suggesting the diagnosis of PA. As a result, she was commenced on lifelong parenteral cobalamin replacement therapy. On follow-up visits of three months, she illustrated a clinical recovery in fatigability and paranesthesia. As expected, the laboratory parameters revealed a rise in hemoglobin level (11 g/dL) and serum vitamin B (418 pg/mL). However, she remained bedridden with spastic limbs. Clinicians should have a high index of suspicion since PA is a rare disease with variable clinical presentations. The optimal management approach is by a multidisciplinary care team of internists, neurologists, gastroenterologists, and hematologists.

摘要

恶性贫血(PA)是一种主要累及胃底壁细胞的慢性炎症性破坏性疾病。它会导致由于内因子缺乏继发的维生素B(钴胺素)缺乏。尽管如今医学取得了进步,但诊断PA仍具有挑战性。本报告强调了一例被忽视的老年PA病例,该患者同时存在进行性亚急性脊髓联合变性(SCDS)。一名患有多种合并症的86岁女性因过去两个月难治性贫血被转诊至血液科门诊。起初,她的全科医生(GP)将她视为慢性病贫血病例进行治疗,但病情并无改善。她最初的临床评估显示存在不明原因的血液学和神经学表现,包括全身无力、肌张力增高、伴有感觉障碍的反射亢进,尤其是下肢。经检查,血红蛋白水平为9 g/dL,伴有高间接胆红素血症和乳酸脱氢酶(LDH)升高。尽管平均红细胞体积(MCV)和外周血涂片正常,但随后报告的抗内因子和壁细胞抗体检测呈阳性,提示PA诊断。因此,她开始接受终身肠外钴胺素替代治疗。在三个月的随访中,她的疲劳和感觉异常症状出现了临床缓解。不出所料,实验室参数显示血红蛋白水平升高(11 g/dL),血清维生素B水平升高(418 pg/mL)。然而,她仍因肢体痉挛而卧床不起。由于PA是一种临床表现多样的罕见疾病,临床医生应保持高度怀疑。最佳的管理方法是由内科医生、神经科医生、胃肠病学家和血液科医生组成的多学科护理团队进行治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de37/10480558/17479cfe815a/cureus-0015-00000043045-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de37/10480558/17479cfe815a/cureus-0015-00000043045-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de37/10480558/17479cfe815a/cureus-0015-00000043045-i01.jpg

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本文引用的文献

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Pernicious anemia: Pathophysiology and diagnostic difficulties.恶性贫血:病理生理学和诊断难点。
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