scholarly journals Case Series of Pancytopenia Secondary to Pernicious Anemia

Author(s):  
Low Qin Jian ◽  
Eric Hong Qiu Weng ◽  
Cheo Seng Wee

Pernicious anaemia is an autoimmune disorder where vitamin B12 deficiency is caused by autoantibodies that interfere with vitamin B12 absorption by targeting intrinsic factor or parietal cells or both. It is commonly associated with anaemia, rarely pancytopenia. Here we reported two cases of pancytopenia due to undiagnosed pernicious anaemia. The first case was a 26-year-old man presented with lethargy and reduced effort tolerance, associated with postural giddiness and palpitation. Clinically, he was pale with no other findings. On blood investigations, the patient has diagnosed pancytopenia secondary to pernicious anaemia.He was treated with daily subcutaneous injection of vitamin B12 cyanocobalamin 1 mg for one week followed by weekly injection for a month and subsequently with lifelong monthly subcutaneous injection. After receiving 2 weeks of B12 replacement, his full blood count had normalized and his symptoms resolved. The second case was a 65-year-old man presented with yellowish discolouration of the eyes with lethargy. On examination, he was pale with jaundice. On blood investigations, the patient has diagnosed pancytopenia secondary to pernicious anaemia. He was started with an intramuscular injection of 1000 mcg vitamin B12 replacement daily for one week followed by monthly for 6 months. After one week of B12 replacement, his full blood count had normalized. He was started on lifelong 3 monthly injections of vitamin B12 replacement and he remained symptom-free. Patients with pernicious anaemia often present with general signs and symptoms which occurinsidiously. It is important that early diagnosis is made to avoid harmful complications such as neuropsychiatric disorders.

BJS Open ◽  
2021 ◽  
Vol 5 (Supplement_1) ◽  
Author(s):  
Chaitya Desai ◽  
Beno Machado ◽  
Sanjay Kumar ◽  
Chaitya Desai

Abstract Introduction Not all causes of vitamin B12 deficiency require intramuscular hydroxocobalamin (IMH). NICE guidance states that diet-related deficiency can be treated orally, but pernicious anaemia must be excluded via anti-intrinsic factor antibodies (anti-IFAB). Our aim was to audit the management of B12 deficiency during the COVID-19 pandemic when reducing footfall is vital. Then, implement staff education strategies to improve adherence to guidance. Methods Data for patients who received IMH from March-June 2020 was retrospectively analysed for: full blood count (FBC), B12, folate and anti-IFAB levels. These patients were sent letters to have blood tests for the missing investigations. Results were presented at meetings and flowchart-posters were distributed. Audit was closed with prospective data for patients who requested IMH from September-October 2020. Results From 46 patients identified, 82.6% had B12 and folate checked prior to therapy commencement, but 23.7% had an untreated folate deficiency. 79.3% of patients receiving IMH had never been tested for anti-IFAB; none of those tested were positive. A lack of awareness of the NICE guidance was identified as a key cause for non-adherence. Following the intervention, all 34 patients were appropriately investigated. Out of these, 8.8% had positive anti-IFAB levels and following a review of their clinical histories, all patients were commenced on appropriate therapy. Discussion IMH can have great benefit; but it is invasive, has financial and nursing-time implications, and increases the risk of contagion via footfall in the practice. Thus, this multi-cycle audit shows that appropriate investigations prior to commencing therapy is key.


Pulse ◽  
2014 ◽  
Vol 5 (1) ◽  
pp. 57-60 ◽  
Author(s):  
AA Bhuiyan ◽  
SK Dash ◽  
SMH Shahriar ◽  
F Nahid ◽  
S Arefin

Aim and Objective Vitamin B12 deficiency disease, specially associated with pernicious anaemia is a relatively rare disease in the developing countries. Patients with B12 deficiency may present with hematological, gastro-intestinal and neuro-psychiatric manifestations. Here we discuss a case of a fifty five-year-old lady presented with sub-acute combined degeneration of the spinal cord. Case presentation A fifty five year old female was admitted in Neurology ward in Apollo Hospitals, Dhaka from OPD for progressive quadriparesis with tingling in the hands and feet. She had no associated visual, bulbar symptoms, sphincter incontinence or memory impairment. Investigation revealed mild anaemia, macrocytosis on peripheral blood picture, low Vitamin B12 level with megaloblastic changes in bone marrow examination. Anti-Intrinsic factor antibody and anti-parietal cell antibody was not done, as it is not available here. MRI of dorsal spine shows T2 hyper-intense lesions in the posterior cord. GI Endoscopic biopsy revealed chronic atrophic gastritis. Conclusion We presented this case because of its relatively uncommon occurrence in our country. Sub-acute combined degeneration of spinal cord associated with dietary deficiency is common in Indian sub-continent. High index of suspicion is needed for its early diagnosis as delay in treatment can lead to poor neurological recovery. DOI: http://dx.doi.org/10.3329/pulse.v5i1.20193 Pulse Vol.5 January 2011 p.57-60


Author(s):  
Chris Bunch

This chapter addresses the diagnosis, investigation, and management of anaemia due to a deficiency in iron, vitamin B12, or folate. Erythropoiesis requires an adequate supply of iron for haem formation, as well as vitamin B12 and folic acid (folate) to support high levels of DNA synthesis, and a lack of any of these will result in anaemia. Iron-deficient anaemias are typically microcytic, while a deficiency in vitamin B12 or folate results in megaloblastic haemopoiesis and a macrocytic anaemia. Iron deficiency results from poor dietary iron intake, poor absorption, increased demands, blood loss, or combinations of these. The usual cause of severe vitamin B12 deficiency in Western countries is an autoimmune atrophic gastritis, in which there is a loss of gastric parietal cell numbers and an absence of intrinsic factor production, which effectively prevents vitamin B12 absorption. This is the classical pernicious anaemia, and it is often seen in association with other autoimmune disorders. Folate deficiency may result from poor diet, malabsorption, or when demand for folate is increased, for example, during pregnancy, or with increased haemopoiesis in haemolytic anaemias or myeloproliferative disorders.


2021 ◽  
Vol 11 (1) ◽  
pp. 130-137
Author(s):  
Roopesh Kumar Yadav ◽  
Sudhanshu Mishra ◽  
Deepti Jain

Vitamin B12 is a water-soluble vitamin that plays a key role in the brain's proper functioning and nervous system, in blood flow, and in reducing weakness and tiredness. In their food, most people get adequate vitamin B12, but in some health conditions (e.g. inadequate sleep, stomach/intestinal disorders, inflammation, cancer), there could be a shortage. If left unchecked, severe Vitamin B12 deficiency results in anemia and nerve damage. Vitamin B12 deficiency is typically treated using parenteral and oral dosage formulations, but absorption and compliance problems are involved with these routes of administration. Most significantly, the function of this missing intrinsic factor has been shown to assist in vitamin B12 absorption and a deficiency known as pernicious anaemia. Vitamin B12 is only partially absorbed when delivered by mouth to patients with pernicious anemia, but hematologically re-absorbed in patients with pernicious anemia. Parenteral administration of the extrinsic element will treat pernicious anaemia satisfactorily. There are several roles and advantages of vitamin B 12 in the human body with therapeutic effects also. Keywords: Water Soluble Vitamins, Methylcobalamine, Vitamin B12, Pernicious Anaemia.


EMJ Neurology ◽  
2021 ◽  
pp. 77-80
Author(s):  
Marta Arriaga Rocha ◽  
Martim Trovão Bastos ◽  
Joana Mauríco ◽  
Susana Heitor

Vitamin B12 deficiency affects multiple systems, including the central and peripheral nervous systems, producing a vast spectrum of neurological symptoms. It is particularly important due to its insidious presentation and because it can evolve to spastic paraplegia with permanent sequelae. The authors describe a case of a woman with asthenia, bilateral lower limb weakness, urinary retention, and faecal incontinence, with no structural cause on imaging studies. Blood tests showed anaemia (haemoglobin: 6.8 g/dL) and vitamin B12 deficiency (<100 pg/mL). After upper digestive endoscopy compatible with chronic atrophic gastritis and positive for anti-intrinsic factor antibodies was obtained, the diagnosis of subacute combined degeneration due to vitamin B12 deficiency in the context of pernicious anaemia was admitted. Although this entity is a rare cause of myelopathy, it is a frequent manifestation of vitamin B12 deficiency. Clinical suspicion is fundamental since the reversibility of the neurological lesion is dependent on early treatment.


2020 ◽  
pp. 71-80
Author(s):  
Wafa Ammouri ◽  
Hicham Harmouche ◽  
Hajar Khibri ◽  
Souad Benkirane ◽  
Masrar Azlarab ◽  
...  

Pernicious anaemia (PA) is an autoimmune disease of multifactorial aetiology involving environmental and immunological factors. It is the most common cause of cobalamin deficiency anaemia worldwide. The disease is a macrocytic anaemia caused by a vitamin B12 deficiency, which, in turn, is the result of intrinsic factor deficiency, a protein that binds avidly to dietary vitamin B12 and promotes its transport to the terminal ileum for absorption. Despite the advances in understanding the pathogenesis and molecular biology, diagnosis of PA is still challenging for clinicians because of its complexity, diverse clinical presentations, and the limitations of the available diagnostic tools for the evaluation of cobalamin status and the presence of chronic autoimmune atrophic gastritis. Asymptomatic autoimmune gastritis, a chronic inflammatory disease of the gastric mucosa, precedes the onset of corpus atrophy by 10–20 years. Diagnostic dilemmas could occur when patients with PA present with spuriously normal or high cobalamin levels, normocytic or microcytic anaemia, nonanaemic macrocytosis, autoimmune haemolytic anaemia, pseudo-thrombotic microangiopathy, hyperhomocysteinemia-associated thromboembolism, pseudoleukemia, bone marrow failure, and neurologic manifestations without anaemia or macrocytosis. Other autoimmune disorders, especially thyroid disease, Type 1 diabetes mellitus, and vitiligo, are also commonly associated with PA. The present review focusses on novel aspects regarding the pathogenesis, clinical presentation, and the diagnostic approach of PA; the true usefulness of serum vitamin B12 levels; and the risk of adenocarcinoma and gastric carcinoids as well as their treatment and monitoring strategies.


Author(s):  
Joao Galaz Tavares ◽  
Bernardo Baptista ◽  
Bebiana Gonçalves ◽  
Alexandra Bayão Horta

A 49-year-old female patient presented to our hospital with asthenia, odynophagia, low grade fever, worsening symptoms of chronic depression, and symmetric leg paresthesias. Investigations showed macrocytic anaemia, leucopenia, thrombocytopenia, high lactate dehydrogenase levels and a normal Coombs test. Trilineage dysplasia was detected in the bone marrow biopsy specimen. The diagnostic work-up led us to the diagnosis of pernicious anaemia with a spuriously normal value of vitamin B12 and high titres of anti-intrinsic factor autoantibodies. This case highlights the importance of considering vitamin B12 deficiency in the differential diagnosis of myelodysplasia, even when vitamin B12 levels seem to be normal.


BMJ ◽  
1955 ◽  
Vol 2 (4937) ◽  
pp. 461-463 ◽  
Author(s):  
E. K. Blackburn ◽  
H. Cohen ◽  
G. M. Wilson

1998 ◽  
Vol 12 (4) ◽  
pp. 215-226 ◽  
Author(s):  
Margaret Wynn ◽  
Arthur Wynn

Vitamin B12 deficiency damages nerve cells and aggravates nervous system disorders even in the absence of evidence of anaemia. Prevalence of B12 deficiency increases with age especially over 65 and is frequently associated with Alzheimer's disease. Recent American surveys record a higher prevalence of B12 deficiency and of undiagnosed and untreated pernicious anaemia in the elderly than reported earlier. B12 deficiency is also reported to be a risk factor for heart disease, stroke and accelerated ageing.


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