Shrestha Suyesh Raj, Shrestha Pramit Ram, Yadav Abhyuday Kumar, Shrestha Sneha, Shrestha Ashish, Katwal Pawan
Kathmandu University School of Medical Sciences, Dhulikhel, 45210, Nepal.
Ann Med Surg (Lond). 2022 Jul 13;80:104151. doi: 10.1016/j.amsu.2022.104151. eCollection 2022 Aug.
Pernicious Anaemia is a rare autoimmune disorder prevalent among 0.1% of the general population and is characterised by decreased cobalamin absorption. This condition is overlooked because of its rarity, insidious onset of non-specific symptoms and clinically asymptomatic state. Elevated serum intrinsic factor antibody level along with reduced Vitamin B12 level confirms the diagnosis.
Pallor and abdominal tenderness was present. Haematological investigations showed elevated platelet count, elevated Mean Cell Volume reduced haemoglobin level(11.4 g/dl), reduced Vitamin B12 and high serum intrinsic factor antibody level. Serum parietal cell antibody was positive. The patient responded well to parenteral Vitamin B12.
In Pernicious anaemia, serum intrinsic factor antibody and parietal cell antibody are high which are responsible for reduced Vitamin B12 absorption. Studies have also shown positive correlation between H pylori and Pernicious Anaemia. Neurological symptoms are less common but may present as paraesthesia, changes in gait or spasticity due to peripheral neuropathy. It is also associated with autoimmune diseases. Untreated pernicious anaemia can lead to neurological and gastrointestinal complications.
Pernicious Anaemia is an overlooked condition because of its insidious onset of non-specific symptoms, clinically asymptomatic state, rarity and therefore timely diagnosis of Pernicious Anaemia still remains a challenge.
恶性贫血是一种罕见的自身免疫性疾病，在普通人群中的患病率为0.1%，其特征是钴胺素吸收减少。由于其罕见性、非特异性症状的隐匿性发作以及临床无症状状态，这种疾病常被忽视。血清内因子抗体水平升高以及维生素B12水平降低可确诊该病。
患者出现面色苍白和腹部压痛。血液学检查显示血小板计数升高、平均红细胞体积升高、血红蛋白水平降低（11.4 g/dl）、维生素B12水平降低以及血清内因子抗体水平升高。血清壁细胞抗体呈阳性。患者对肠外维生素B12治疗反应良好。
在恶性贫血中，血清内因子抗体和壁细胞抗体水平升高，这是导致维生素B12吸收减少的原因。研究还表明幽门螺杆菌与恶性贫血之间存在正相关。神经系统症状较少见，但可能表现为感觉异常、步态改变或因周围神经病变引起的痉挛。它还与自身免疫性疾病有关。未经治疗的恶性贫血可导致神经和胃肠道并发症。
由于恶性贫血非特异性症状的隐匿性发作、临床无症状状态、罕见性，它是一种常被忽视的疾病，因此，恶性贫血的及时诊断仍然是一项挑战。
