Presentation
CONCLUSIONS: Macrocytic anemia is not the only hematological presentation of ABG. [ncbi.nlm.nih.gov]
Children ≤10y presented a lower prevalence (p 65y, 60.2%). II. The overall subsample presented 24.7% low B-12, 8.1% low folate, 22.2% anemia and 3.7% macrocytosis, 1.3% macrocytic anemia. [b12-institute.nl]
Howell-Jolly bodies (residual fragments of the nucleus) are usually present. If iron deficiency or impaired iron utilization is present simultaneously, macrocytosis may not develop. [merckmanuals.com]
This patient's clinical presentation does not fit any know mtDNA deletion syndrome. We present a case of a novel mtDNA deletion in a child who initially presented with MA. [aspergillus.org.uk]
Entire Body System
- Splenectomy
Because RBC membrane molding occurs in the spleen after cell release from the marrow, RBCs may be slightly macrocytic after splenectomy, although these changes are not associated with anemia. [merckmanuals.com]
Splenectomy may cause macrocytosis because cells are not processed as thoroughly when the spleen is absent. [aafp.org]
Sickling can lead to a range of severe symptoms: Vaso-occlusion leading to tissue infarction (for example, dactylitis – swollen hands due to vaso-occlusion of hand bones) Auto-splenectomy occurs if spleen gets infarcted; this increases chances of acquiring [lecturio.com]
These conditions include the post-splenectomy state, liver disease, alcoholism, myelophthisic or hypoplastic anemias, hypothyroidism, chronic lung disease, smoking, hyperglycemia, and even leukocytosis. [cancertherapyadvisor.com]
- Malnutrition
[…] deficiency) (infantile) (primary) (profound) D64.9 ICD-10-CM Diagnosis Code D64.9 Anemia, unspecified 2016 2017 2018 2019 Billable/Specific Code chronic simple D53.9 deficiency D53.9 nutritional D53.9 macrocytic D53.9 nutritional (deficiency) D53.9 malnutrition [icd10data.com]
Anemia : An indicator for malnutrition in the elderly. Ann Hematol 2001;80:295-8. [Medline] Zamboni V, Cesari M, Zuccala G, et al. Anemia and cognitive performance in hospitalized older patients : Results from the GIFA study. [revmed.ch]
Alternatively, an obvious primary disease that is associated with folate deficiency anemia may dominate the clinical picture (for example, alcoholism, malabsorption, or malnutrition). [cancertherapyadvisor.com]
View Article PubMed Google Scholar Qureshi AR, Alvestrand A, Divino-Filho JC, Gutierrez A, Heimburger O, Lindholm B, Bergstrom J: Inflammation, malnutrition, and cardiac disease as predictors of mortality in hemodialysis patients. [bmcnephrol.biomedcentral.com]
- Anorexia
Gastrointestinal manifestations are common, including diarrhea, glossitis, and anorexia. Neurologic manifestations, including peripheral neuropathy and gait instability, are unique to B12 deficiency and can be permanent if prolonged. [merckmanuals.com]
However, young women who eat low carbohydrate diets, as well as socially isolated individuals, or those with chronic intestinal disease (tropical sprue) with anorexia may continue to be at risk for folate deficiency. [cancertherapyadvisor.com]
Gastrointestinal
- Loss of Appetite
Symptoms include: loss of appetite or weight brittle nails fast heartbeat diarrhea fatigue pale skin, including lips and eyelids shortness of breath poor concentration or confusion memory loss If you have several of these symptoms, make an appointment [healthline.com]
Other symptoms that affect the entire body include loss of appetite, fever, loss of energy and anemia (lack of red blood cells Muita koko kehoon vaikuttavia oireita ovat ruokahaluttomuus, kuume, voimattomuus ja anemia (veren punasolujen puute Pediatricians [fi.glosbe.com]
Neurologic
- Paresthesia
Paresthesias can be the presenting manifestation of B12 deficiency, even before (or in the absence of) anemia. [merckmanuals.com]
Crohn’s disease – terminal ileum may not be functioning Clinical presentation Neurological findings Stocking glove paresthesias Ataxia Loss of fine touch Dementia Depression Symptoms of anemia Labs CBC Low H&H Elevated MCV Low retic count Peripheral blood [physicianassistantexamreview.com]
The most frequent manifestations are paresthesias and numbness [3]. Therapy with folic acid can mask the B12 deficiency and lead to irreversible neurological damage [4]. [path.upmc.edu]
Patients with vitamin B 12 deficiency may describe paresthesias related to peripheral neuropathy, poor or strict vegan diet, lack of socioeconomic resources, bowel-related symptoms (including diarrhea), or a history of bowel surgery for weight loss. [aafp.org]
- Neurologic Manifestation
Gastrointestinal manifestations are common, including diarrhea, glossitis, and anorexia. Neurologic manifestations, including peripheral neuropathy and gait instability, are unique to B12 deficiency and can be permanent if prolonged. [merckmanuals.com]
Today neurologic manifestations are relatively rare ( Posterior and lateral degeneration typical of late stage disease. [med-ed.virginia.edu]
If there are neurologic manifestations, think of vitamin B12 deficiency. In the USA, neurologic features may be dominant with only minimal anemia. [cancertherapyadvisor.com]
- Dizziness
Similarly, a 42-year-old man with dizziness had a RBC count of 1.63×10(6)/μL with 24.0% reticulocytes, an Hb level of 6.0 g/dL, an MCV of 120.2 fL and a WBC count of 3,100/μL with 4.0% myeloblasts. [ncbi.nlm.nih.gov]
You feel dizzy. You have no appetite. You've lost weight without trying. Your hands and feet feel like they're numb or tingling. Your heart beats too fast or you have chest pain. Your muscles feel weak. You often have mood changes. [webmd.com]
Some of the most common symptoms are: General feeling of tiredness or weakness (fatigue) Lack of energy Pale skin (pallor) Dizziness Headaches Other signs and symptoms that may develop as the anemia becomes more severe include a feeling of cold or numbness [labtestsonline.org]
- Tingling
Your hands and feet feel like they're numb or tingling. Your heart beats too fast or you have chest pain. Your muscles feel weak. You often have mood changes. You're confused or forgetful. [webmd.com]
These may include: Numbness and tingling that start first in the hands and feet (from nerve damage) Muscle weakness Slow reflexes Loss of balance Unsteady walking Confusion, memory loss, depression, and/or dementia in severe cases Folic acid is another [labtestsonline.org]
Workup
Serum
- Howell-Jolly Bodies
Howell-Jolly bodies are DNA remnants seen with a macrocytic anemia or a damaged spleen. You will find them in B12 deficiency anemia, folate devicenet anemia, sickle cell anemia and celiac disease. [physicianassistantexamreview.com]
Although iron deficiency can mask macrocytosis, Howell-Jolly bodies and granulocyte hypersegmentation should still be present. Serum B12 and folate levels should be measured. [merckmanuals.com]
Megaloblastic macrocytic anemia is notable for the presence of small specks within red blood cells known as Howell-Jolly bodies, the Merck Manual reports, which are the result of immature red blood cells being released into the body to compensate for [livestrong.com]
Multinucleate RBCs, abnormal karyorrhexis, increased pyknosis, and Howell-Jolly bodies ( right) may be seen. [med-ed.virginia.edu]
- Anisocytosis
The smear shows macro-ovalocytosis, anisocytosis (variation in RBC size), and poikilocytosis (variation in RBC shape). The RDW is high. Howell-Jolly bodies are common. Reticulocytopenia is present. [merckmanuals.com]
When there is a high RDW, we expect anisocytosis. This is a fancy word for red blood cells that have unequal sizes. Macrocytosis with increased RDW can occur as a result of autoimmune hemolytic anemia. [study.com]
[…] concentration (mean corpuscular hemoglobin concentration, MCHC)—decreased Increased variation in the size of RBCs (red cell distribution width, RDW) A blood smear may reveal RBCs that are smaller and paler than normal as well as RBCs that vary in size (anisocytosis [labtestsonline.org]
- Erythroblast
Acute/blood Leukemia, Erythroblastic, Acute/complications Leukemia, Erythroblastic, Acute/diagnosis* Male Middle Aged Reticulocytosis/physiology* [ncbi.nlm.nih.gov]
Megaloblastic refers to a characteristic abnormality of the erythroblasts in the bone marrow in which the maturation of the nucleus is delayed relative to the cytoplasm. It results from defective DNA synthesis. [patient.info]
[…] finding of hypersegmented polymorphonuclear neutrophils should point to the likelihood of megaloblastic anemia, and a bone marrow aspirate could clinch the diagnosis when giant myelocytes and metamyelocytes are seen (even though abnormal megaloblastic erythroblasts [cancertherapyadvisor.com]
- Poikilocytosis
The smear shows macro-ovalocytosis, anisocytosis (variation in RBC size), and poikilocytosis (variation in RBC shape). The RDW is high. Howell-Jolly bodies are common. Reticulocytopenia is present. [merckmanuals.com]
[…] corpuscular hemoglobin concentration, MCHC)—decreased Increased variation in the size of RBCs (red cell distribution width, RDW) A blood smear may reveal RBCs that are smaller and paler than normal as well as RBCs that vary in size (anisocytosis) and shape (poikilocytosis [labtestsonline.org]
Biopsy
- Megaloblastic Bone Marrow
The differential diagnosis of MA without megaloblastic bone marrow includes hypothyroidism, liver disease, aplastic anemia, Diamond-Blackfan anemia, Pearson's syndrome, bone marrow infiltration and congenital dyserythropoietic anemia. [aspergillus.org.uk]
Defective DNA synthesis in human megaloblastic bone marrow: effects of homocysteine and methionine. J Clin Invest. 1969;48(2):284–289. 15. Ortiz Z, Shea B, Suarez Almazor M, Moher D, Wells G, Tugwell P. [aafp.org]
When do you need to get more aggressive tests: A bone marrow aspirate would provide results (within an hour) to confirm whether or not there was a megaloblastic bone marrow in a patient with moderately severe anemia. [cancertherapyadvisor.com]
Treatment
HbS in red cells Treatment There is no specific treatment for the disease. [physicianassistantexamreview.com]
Megaloblastic Short-Term Treatment Patients who have megaloblastic macrocytic anemia require immediate correction of their vitamin deficiency. [livestrong.com]
Treatment with levothyroxine led to correction of the hematologic abnormalities over a four-month period. The anemia of hypothyroidism may present with macrocytic indices and this diagnosis should be suspected when this finding is noted. [ncbi.nlm.nih.gov]
Macrocytic anemia treatment is basically aimed at treating the underlying condition. [healthhearty.com]
Prognosis
Google Scholar Hasuike Y, Nonoguchi H, Tokuyama M, Ohue M, Nagai T, Yahiro M, Nanami M, Otaki Y, Nakanishi T: Serum ferritin predicts prognosis in hemodialysis patients: the Nishinomiya study. [bmcnephrol.biomedcentral.com]
What should you tell the patient and the family about prognosis? The vast majority of patients with vitamin B12 deficiency will respond to vitamin B12 replacement with a dramatically improved sense of well being. [cancertherapyadvisor.com]
Etiology
Nine cases (36%) showed macrocytic anemia without any evident etiologies during therapy. The cumulative appearance rate of anemia was 19% at 12 weeks and 51% at 18 weeks. [ncbi.nlm.nih.gov]
The common theme of etiologies that give rise to macrocytic anemias are their capacity to interfere with DNA Synthesis. This results in ineffective erythropoiesis within the bone marrow and over time, anemia. [pathwaymedicine.org]
Megaloblastic anemia is characterized by macro-ovalocytes, in contrast to the round macrocytes usually found in macrocytosis of nonmegaloblastic etiology [1]. [path.upmc.edu]
The most common etiologies are alcoholism, vitamin B 12 and folate deficiencies, and medications. [aafp.org]
Etiology and diagnostic evaluation of macrocytosis. Am J Med Sci. 2000;319(6):343-52. Savage DG, Lindenbaum J, Stabler SP, Allen RH. [msjonline.org]
Epidemiology
In patients with liver disease and obstructive jaundice, cholesterol and/or phospholipids become deposited on the membranes of circulating red blood cells, leading to larger than normal cells. [ 1 ] Epidemiology [ 2 ] One study found that the most common [patient.info]
Epidemiology of anemia in older adults. Semin Hematol 2008;45:210-7. [Medline] Tettamanti M, Lucca U, Gandini F, et al. Prevalence, incidence and types of mild anemia in the elderly :The «Health and Anemia» population-based study. [revmed.ch]
[…] size of the red cell is useful in diagnosis: Microcytic red cells are seen in iron deficiency and thalassemia Normocytic red cells are observed in bone marrow, inflammatory or renal disorders Macrocytic red cells are a feature of vitamin deficiencies Epidemiology [lecturio.com]
Pantelis Andreou, Department of Community Health and Epidemiology, Dalhousie University, Nova Scotia, Canada, for his assistance with the statistical analysis. [bmcnephrol.biomedcentral.com]
Pathophysiology
This mouse model suggests that a p53-dependent mechanism underlies the pathophysiology of the 5q- syndrome. [ncbi.nlm.nih.gov]
Pathophysiology Etio-pathophysiologic classification of vitamin B12 deficiency Nutritional vitamin B12 deficiency (insufficient intake of vitamin B12-rich animal source foods) Vegetarians, near-vegetarians, breast-fed infants of mothers with pernicious [cancertherapyadvisor.com]
Alcohol 26 65 15 36 B 12 and/or folate deficiency 6 9 28 21 Medications 37* 3 2 11 Hypothyroidism — 1 12 5 Bone marrow dysplasias 6 1 5 5 Liver disease (nonalcoholic) 6 — 2 6 Reticulocytosis 8 — — 7 Miscellaneous 3 21 13 7 Not established 7 — 22 12 Pathophysiology [aafp.org]
Prevention
[…] corpuscular volume [MCV] ≥100 fl) and macrocytic anemia (MCV ≥100 fl and hemoglobin CONCLUSIONS: These results suggest that the erythrocyte abnormalities in alcoholics are attributable to high AcH exposure as well as to nutritional deficiencies and may be prevented [ncbi.nlm.nih.gov]
Now in its second edition, this popular and essential comprehensive resource provides a detailed analysis of how to identify, prevent, and manage drug-induced diseases. Edited by James E. Tisdale and Douglas A. [books.google.de]
You can’t always prevent macrocytic anemia, particularly when it’s caused by underlying conditions out of your control. However, you can prevent the anemia from becoming severe in most cases. [healthline.com]
Panel on Treatment of HIV-Infected Pregnant Women and Prevention of Perinatal Transmission. [scholarlypages.org]
Long-Term Control Patients with a vitamin B-12 deficiency may suffer from an underlying disorder that prevents the body from absorbing B-12, MedLinePlus says. [livestrong.com]