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

老年患者出现不明原因的血液和神经系统症状:恶性贫血的诊断难题

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Abstract

Pernicious anemia (PA) is a chronic inflammatory destructive disease of parietal cells of predominantly the gastric fundus. It leads to vitamin B(12) (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(12) (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.

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