Optimal management of pernicious anemia

Abstract

Pernicious anemia (also known as Biermer’s disease) is an autoimmune atrophic gastritis, predominantly of the fundus, and is responsible for a deficiency in vitamin B12 (cobalamin) due to its malabsorption. Its prevalence is 0.1% in the general population and 1.9% in subjects over the age of 60 years. Pernicious anemia represents 20%–50% of the causes of vitamin B12 deficiency in adults. Given its polymorphism and broad spectrum of clinical manifestations, pernicious anemia is a great pretender. Its diagnosis must therefore be evoked and considered in the presence of neurological and hematological manifestations of undetermined origin. Biologically, it is characterized by the presence of anti-intrinsic factor antibodies. Treatment is based on the administration of parenteral vitamin B12, although other routes of administration (eg, oral) are currently under study. In the present update, these various aspects are discussed with special emphasis on data of interest to the clinician.

Neuroregression as an initial manifestation in a toddler with acquired pernicious anaemia

“…Infantile onset symptoms usually result from infants of vegan mothers, infants of the mother with pernicious anaemia, congenital pernicious anaemia or a variant of juvenile pernicious anaemia 2 3. Prevalence of pernicious anaemia in the general population is 0.1% and it accounts as an aetiology for vitamin B 12 deficiency in up to 50% of adults 4. Pernicious anaemia is extremely rare in children and adolescents.…”

“…Intrinsic factor antibodies were detected, but antibodies against parietal cell mass tested were negative in our case. Anti-intrinsic factor antibodies have 100% specificity and a low sensitivity of 35–50% while antiparietal cell antibodies have 50–80% sensitivity and a specificity of 90–98% 4 12 13. Although hypothyroidism was detected, we did not find any associated thyroid antibodies or an underlying Addison disease, coeliac disease, Sjögren syndrome, vitiligo or type I diabetes mellitus.…”

Oral Cobalamin Therapy for the Patient with Biermer’s Disease

“…To date, treatment of cobalamin deficiency related to Biermer's disease is based on parenteral vitamin B12, administered intramuscularly, under the form of cyanocobalamin, hydroxocobalamin, or methylcobalamin [3]. In France, only intramuscular cyanocobalamin is used for this indication (authorization of the French regulatory agency of drug use).…”

Tracing a roadmap for vitamin B12 testing using the health technology assessment approach

“…Pernicious anemia (PA) is currently considered as the main responsible factor for B12 malabsorption and deficiency (20%-50% of B12 deficiency cases in adults) [22]. Referring to Northern Europe, where the disease has been well documented, the estimated prevalence of PA is ~2% in subjects ≥ 60 years and nearly 0.1% in the general population [23].…”

“…However, most meta-analyses of randomised controlled trials show that there is no evidence to support the use of B12 supplements for prevention of cardiocerebrovascular diseases [21,26,27]. Recent statistics have revealed that the primary etiology of B12 deficiency in the elderly is foodcobalamin malabsorption (syndrome of non-dissociation of B12 from carrier proteins associated to hypochlorhydria) [23]. In the overall population, the main causes of mild to severe malabsorption have been ascribed to various gastrointestinal diseases and to consumption/abuse of drugs, such as nitrous oxide, gastric acid inhibitors or metformin [21].…”