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Discovery Medicine 2019Pernicious anemia (PA), the commonest cause of cobalamin deficiency (CD) in the world, is an autoimmune disease of multifactorial origin and is characterized by chronic... (Review)
Review
Pernicious anemia (PA), the commonest cause of cobalamin deficiency (CD) in the world, is an autoimmune disease of multifactorial origin and is characterized by chronic atrophic gastritis (CAG) and defective absorption of cobalamin from the terminal ileum due to interference by the intrinsic factor (IF) antibodies. PA-related CD is a lengthy process, which if untreated, can lead to irreversible hematological and neurological sequelae. Although safe and effective therapy is available and the management of PA is straightforward, the diagnosis of PA can be extremely difficult to obtain due to myriad and diverse clinical presentations, frequently coexisting diseases, and limitations of currently available diagnostic tests. Diagnostic dilemmas may occur when PA patients present with normal or spuriously high serum cobalamin levels, dysplastic features of ring sideroblasts in the bone marrow (BM), hemolysis, and concomitant diseases such as iron deficiency or thalassemia. Herein, the author discusses an overview of diagnostic difficulties, with regards to morphological mimics, coexisting diseases, limitations of currently available tests, and how to diagnose PA in the era of imperfect laboratory tests.
Topics: Anemia, Pernicious; Autoantibodies; Biomarkers; Hematologic Tests; Humans
PubMed: 32053765
DOI: No ID Found -
Major Problems in Internal Medicine 1976
Review
Topics: Adult; Aged; Anemia, Pernicious; Child, Preschool; Europe; Female; History, 19th Century; History, 20th Century; Humans; Infant; Intrinsic Factor; Male; Middle Aged; Nervous System Diseases; United States; Vitamin B 12
PubMed: 775201
DOI: No ID Found -
Mayo Clinic Proceedings Feb 1994We discuss the pathophysiologic mechanisms, clinical features, diagnosis, and treatment of pernicious anemia (PA). (Review)
Review
OBJECTIVE
We discuss the pathophysiologic mechanisms, clinical features, diagnosis, and treatment of pernicious anemia (PA).
DESIGN
A review of the clinical applications of the diagnostic and therapeutic progress of PA is presented.
MATERIAL AND METHODS
A patient with PA may have a wide range of initial complaints that affect various organ systems or may be entirely asymptomatic. Hematologic variables may be normal in patients with cobalamin (Cbl) deficiency. Because of the difficulties in diagnosing Cbl deficiency, alternatives to measuring Cbl have been sought. Determining the urinary methylmalonic acid level is a less invasive, more practical, and, possibly, more sensitive method. The Schilling test is performed for assessment of the absorption of orally ingested radiolabeled crystalline cyano-Cbl; results should be interpreted cautiously.
RESULTS
Vitamin B12 therapy should be lifelong. It is customarily administered intramuscularly. Other routes of administration have been studied.
CONCLUSION
PA is one of the most treatable hematologic disorders.
Topics: Anemia, Pernicious; Humans; Vitamin B 12
PubMed: 8309266
DOI: 10.1016/s0025-6196(12)61041-6 -
Discovery Medicine 2022Pernicious anemia (PA) is an autoimmune disease characterized by cobalamin deficiency (CD) due to immune-mediated chronic atrophic gastritis (CAG). CD results from poor...
Pernicious anemia (PA) is an autoimmune disease characterized by cobalamin deficiency (CD) due to immune-mediated chronic atrophic gastritis (CAG). CD results from poor absorption of dietary cobalamin from the terminal ileum, triggered by positive intrinsic factor (IF) antibodies. It is the most common cause of CD worldwide. Despite advances in understanding biochemistry and pathogenesis of PA, its diagnosis can be extremely challenging as the disease may present with hematological as well as nonhematological manifestations and also because of unreliable serum cobalamin assays. Nonhematological manifestations may present in a patient with PA even in the absence of hematological findings. Herein, an overview of common and uncommon nonhematological manifestations of PA is discussed.
Topics: Humans; Anemia, Pernicious
PubMed: 36476278
DOI: No ID Found -
Postgraduate Medicine Feb 1992Pernicious anemia can be confidently diagnosed in a patient who has megaloblastic hematopoiesis, low serum cobalamin level, and impaired vitamin B12 absorption... (Review)
Review
Pernicious anemia can be confidently diagnosed in a patient who has megaloblastic hematopoiesis, low serum cobalamin level, and impaired vitamin B12 absorption correctable by administering intrinsic factor. Recent studies suggest that neurologic disorders in patients with pernicious anemia are less severe than in the past, highly responsive to therapy, and seen in the absence of anemia and macrocytosis. A low serum cobalamin level in the absence of anemia, particularly in a patient with a neurologic disorder, should not be ignored.
Topics: Anemia, Pernicious; Humans
PubMed: 1738743
DOI: 10.1080/00325481.1992.11701209 -
CMAJ : Canadian Medical Association... Apr 2020
Topics: Aged; Anemia, Pernicious; Diagnosis, Differential; Female; Glossitis; Humans; Vitamin B 12
PubMed: 32312826
DOI: 10.1503/cmaj.191331 -
MLO: Medical Laboratory Observer Feb 2007Pernicious anemia is severe anemia most often affecting older adults, caused by failure of the stomach to absorb vitamin B12 and characterized by abnormally large red...
Pernicious anemia is severe anemia most often affecting older adults, caused by failure of the stomach to absorb vitamin B12 and characterized by abnormally large red blood cells, gastrointestinal disturbances, and lesions of the spinal cord. Pernicious anemia is caused by a lack of intrinsic factor and could be an autoimmune disorder. The identification of various autoantibodies helps in the confirmation of the diagnosis and hence towards the patient management. In such patients, oral supplements or intramuscular injections of vitamin B12 are indicated.
Topics: Anemia, Pernicious; Autoantibodies; Humans; United States
PubMed: 17375844
DOI: No ID Found -
The Nurse Practitioner Nov 2023The symptoms of pernicious anemia might resemble those of other common disorders and can be nonspecific, requiring extensive diagnostic workup. The provider must be...
The symptoms of pernicious anemia might resemble those of other common disorders and can be nonspecific, requiring extensive diagnostic workup. The provider must be aware of the harm pernicious anemia can do if undiagnosed and untreated and must understand that diligence and persistence are crucial for an accurate diagnosis.
Topics: Humans; Anemia, Pernicious
PubMed: 37884022
DOI: 10.1097/01.NPR.0000000000000113 -
BMJ (Clinical Research Ed.) Apr 2020
Topics: Anemia, Pernicious; Attention; Erythrocyte Indices; Fatigue; Humans; Hydroxocobalamin; Injections, Intramuscular; Missed Diagnosis; Peripheral Nervous System Diseases; Vitamin B 12 Deficiency; Vitamin B Complex
PubMed: 32332011
DOI: 10.1136/bmj.m1319 -
The American Journal of Medicine May 1970
Review
Topics: Anemia, Pernicious; History, 19th Century; History, 20th Century; Humans; Intrinsic Factor; Vitamin B 12 Deficiency
PubMed: 4915718
DOI: 10.1016/0002-9343(70)90002-1