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Anemia (Macrocytic)
Published in Charles Theisler, Adjuvant Medical Care, 2023
Low blood oxygen levels can lead to fatigue, pallor, shortness of breath, weakness, diarrhea, anorexia, glossitis, instability when walking, tingling in the hands or feet, and confusion. The two most common causes of megaloblastic anemia are deficiencies of vitamin B12 or folate (vitamin B9). Other causes of macrocytosis include liver disease (alcohol-related), drugs (chemotherapy compounds, anticonvulsants, antibiotics, and HIV medications), bone marrow disorders, hypothyroidism, hemolysis, and pregnancy. Treatment is directed to the underlying cause.1
Hereditary and Metabolic Diseases of the Central Nervous System in Adults
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
This is less common, and has a wide variation in onset. Infancy is the most common presentation with severe failure to thrive and megaloblastic anemia. Hypotonia, seizures, and developmental delay or decline occur. Adult presentation varies widely: Weakness.Megaloblastic anemia.Psychosis and mental status changes.Significant thrombophilia.Hemolytic uremic syndrome.Optic nerve atrophy.
Maternal and fetal normal and abnormal nutrition
Published in Moshe Hod, Vincenzo Berghella, Mary E. D'Alton, Gian Carlo Di Renzo, Eduard Gratacós, Vassilios Fanos, New Technologies and Perinatal Medicine, 2019
Sarah Louise Killeen, Eilleen C. O'Brien, Fionnuala M. McAuliffe
Maternal folate deficiency can have detrimental effects on fetal development, increasing the risk of neural tube defects (NTDs), including spina bifida and anencephaly (29). An adequate intake of folic acid successfully prevents NTDs; however, as pregnant women are unlikely to meet their folic acid requirements through diet alone, supplementation of 400 μg per day is recommended for all women preconception and in their first 12 weeks of pregnancy (30). Maternal obesity is a risk factor for NTDs, and as obese women may have lower serum vitamin B12 and folate levels during pregnancy compared to mothers with a healthy weight, they may need even greater folic acid supplementation as well as vitamin B12 (16,31). In addition, megaloblastic anemia can occur because of prolonged inadequate folic acid or vitamin B12 intake (32).
Vitamin B12 deficiency in the setting of nitrous oxide abuse: diagnostic challenges and treatment options in patients presenting with subacute neurological complications
Published in Acta Clinica Belgica, 2022
Yasmine Sluyts, Pieternel Vanherpe, Rizvana Amir, Filip Vanhoenacker, Pieter Vermeersch
In patients with classical megaloblastic anemia, low serum cobalamin level and a rise in hemoglobin after supplementation clearly outline the treatment pathway. However, most patients do not have such a clear‐cut picture. In this case, establishing the diagnosis of a vitamin B12 deficiency can be challenging. A serum vitamin B12 below 200 ng/L is typically considered low and consistent with a deficiency [1]. While more than 95% of patients with megaloblastic anemia have a serum vitamin B12 below 200 ng/L [1], the sensitivity in patients without overt symptoms is significantly lower [2]. This is particularly true for vitamin B12 deficiency due to nitrous oxide [3]. Vice versa, the significance of low cobalamin levels in patients with non-specific symptoms and without anemia is also uncertain. To improve the specificity and sensitivity, additional testing is often recommended when serum vitamin B12 is below 200 ng/L or between 200 ng/L and 300 ng/L. Homocysteine (HCy) is typically elevated in both vitamin B12 and folic acid deficiency, while methylmalonic acid (MMA) is only elevated in vitamin B12 deficiency. Of note, MMA in plasma is not widely available due to the relatively high cost [1,3]. While measuring HCy and MMA can help in the diagnosis of vitamin B12 deficiency, the results of HCy and MMA can also be inconclusive [1].
Copper and zinc deficiency in an alcoholic patient: a case report of a therapeutic dilemma
Published in Journal of Addictive Diseases, 2022
Hiroshi Ito, Yasuhiro Ogawa, Nobutake Shimojo, Satoru Kawano
After his general condition improved, he was admitted to the general ward on day 12. At that time, his hemoglobin level was as low as 7.7 g/dL with a mean corpuscular volume of over 104 fL, and thus he received 2 units of red blood cell transfusion. Megaloblastic anemia due to poor oral intake and alcohol consumption was suspected. Because his serum vitamin B12 and folate levels were high, his serum zinc and copper levels were measured for presumed copper deficiency secondary to zinc supplementation.4 His serum zinc and copper levels on day 11 were 90 μg/dL and 29 μg/dL, respectively (reference value, 70–132 μg/dL); therefore, his zinc supplementation was stopped. However, his copper level remained as low as 25 μg/dL on day 18. An intravenous trace element formulation containing 1.248 mg of copper sulfate was initiated because an intravenous copper formulation is unavailable in Japan. As his copper level remained as low as 26 μg/dL on day 25, he was encouraged to take 3 cups of cocoa intake, which contains about 3 mg of copper. On day 29, his copper level had increased to 44 μg/dL, and he was transferred to an addiction treatment center to undergo a treatment program for alcohol use disorder. The clinical course thereafter was uneventful. He continued the cocoa intake, and his serum copper level increased, to 112 μg/dL 75 days after the transferal.
Cobalamin and folic acid deficiencies presenting with features of a thrombotic microangiopathy: a case series
Published in Acta Clinica Belgica, 2022
Britt Ceuleers, Sofie Stappers, Jan Lemmens, Lynn Rutsaert
Physical examination was unremarkable except for obesity, extreme pale skin and mucosae. Vital signs were as follows: oxygen saturation 97%, heart rate 80/min and blood pressure 118/54 mmHg. Laboratory findings (Table 1) revealed a severe macrocytic anemia with findings consistent with hemolysis and a weak positive Direct Coombs test (strength 1+). Furthermore, there was a thrombocytopenia as well as a folate deficiency (<2.2 µg/L) with a normal vitamin B12 level (414 ng/L). Reticulocyte count was low and there was no evidence for leukocytopenia or lymphocytopenia. Additional laboratory findings showed normal kidney function (creatinine 0.84 mg/dl) and elevated iron levels. Peripheral blood smear findings did not detect schistocytes. Bone marrow examination confirmed megaloblastic anemia.