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Pernicious Anaemia (B12 Deficiency) (Diagnosis (Blood count & film…
Pernicious Anaemia (B12 Deficiency)
Epidemiology
Seen in all races but more common in fair-haired, blue eyed individuals and those who have blood group A
More common in FEMALES than males
The disease is common in the elderly (over 60)
There is also an association with other autoimmune diseases such as thyroid disease and Addison's disease
Risk Factors
Fair-haired, blue eyes
Blood group A
Female
Thyroid and Addison's disease
Elderly
Pathophysiology
Autoimmune gastritis affecting the fundus with plasma cell and lymphoid infiltration
The parietal and chief cells are replaced by mucin-secreting cells
These antibodies are SPECIFIC for DIAGNOSIS
There is reduced HCl production & absent secretion of intrinsic factor
Parietal cell antibodies are present in the serum in 90% of patients with pernicious anaemia - and also in 10% of normal individuals
Clinical Presentation
May have a lemon-yellow skin colour due to the combination of pallor and mild jaundice caused by excess breakdown of haemoglobin
Red sore tongue and angular stomatitis/cheilosis (ulceration of the corners of the mouth) may be present
Onset is insidious with progressively increasing symptoms of anaemia e.g. fatigue, headache, pallor, dyspnoea, anorexia, tachycardia and palpitations
Neurological features
Early loss of vibration sense and proprioception
Progressive weakness and ataxia
Symmetrical paresthesia in fingers and toes
Paraplegia may result
Only occur with very low levels of B12
Dementia, psychiatric problems, hallucinations, delusions and optic atrophy may occur from vitamin B12 deficiency
Differential Diagnosis
Differentiate from other causes of B12 deficiency
Any disease in the terminal ileum or bacterial overgrowth in the small bowel can result in B12 deficiency
Must differentiate from the folate deficiency
Gastrectomy
Diagnosis
Serum B12 is low
Hb is low
Serum bilirubin may be raised as a result of ineffective erythropoiesis resulting in increased RBC breakdown
Reticulocyte count is LOW
Blood count & film
RBC's are MACROCYTIC
Peripheral films shows oval macrocytes with hyperhsegmented neutrophil polymorphs with six or more lobes in the nucleus
Typical of megaloblastic anaemia
Intrinsic factor antibodies - DIAGNOSTIC but lower sensitivity i.e. not present in all patients
Treatment
If a low B12 is due to malabsorption then injections are required
If cause is dietary then give oral B12
If not pernicious anaemia then treat cause
Replenish B12 stores