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Query: UMLS:C0024523 (malabsorption)
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Anemia occurs in up to 25% of the US population. Normal hemoglobin levels vary by race, sex, and age. Classification of anemia by mean corpuscular volume guides the differential diagnosis and evaluation. Iron studies, reticulocyte count, the red blood cell distribution width index, and blood test results are used to make the diagnosis. Iron deficiency anemia is the most common microcytic anemia and is managed with iron therapy. Parenteral iron is available when the oral route cannot be used. Patients who do not benefit from therapy should be evaluated for adherence, malabsorption, occult bleeding, systemic disease, or less common inherited disorders. A source of gastrointestinal bleeding is found in 60% to 70% of patients with iron deficiency anemia who are referred for endoscopy. Normocytic anemia has a broad differential, including nutritional deficiencies, blood loss, renal disease, malignancy (solid tumors or hematologic cancer), rheumatologic disorders, endocrine disorders, and other systemic diseases. Macrocytic anemias are seen with vitamin B12 and folate deficiency, alcohol use, thyroid disease, hydroxyurea, antiretroviral drugs, myelodysplastic syndromes, and myeloma. Oral vitamin B12 is underused, and can be as effective as intramuscular vitamin B12 in managing anemia due to vitamin B12 deficiency.
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PMID:Hematologic Disorders: Anemia. 2608 Apr 53

Background. Wernicke's encephalopathy (WE) is an acute neurological disorder resulting from thiamine deficiency. It is mainly related to alcohol abuse but it can be associated with other conditions such as gastrointestinal disorders. This vitamin deficiency can also present with cardiovascular symptoms, called "wet beriberi." Association with folate deficit worsens the clinical picture. Subject. A 70-year-old man with gastric phytobezoar presented with gait instability, dyspnoea, chest pain associated with right heart failure and pericarditis, and folate deficiency. Furosemide was administered and cardiac symptoms improved but he soon developed vertiginous syndrome, nystagmus, diplopia, dysmetria, and sensitive and motor deficit in all four limbs with areflexia. Results. A cerebral magnetic resonance imaging (MRI) showed typical findings of WE. He was immediately treated with thiamine. Neurological symptoms improved in a few days and abnormal signals disappeared in a follow-up MRI two weeks later. Conclusion. Patients with malabsorption due to gastrointestinal disorders have an increased risk of thiamine deficiency, and folate deficiency can make this vitamin malabsorption worse. An established deficiency mainly shows neurological symptoms, WE, or rarely cardiovascular symptoms, wet beriberi. Early vitamin treatment in symptomatic patients improves prognosis. We recommend administration of prophylactic multivitamins supplements in patients at risk as routine clinical practice.
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PMID:Wernicke's Encephalopathy, Wet Beriberi, and Polyneuropathy in a Patient with Folate and Thiamine Deficiency Related to Gastric Phytobezoar. 2669 47

The most common hematologic complication of inflammatory bowel disease (IBD)--ulcerative colitis and Crohn's Disease is anemia. Anemia in patients with IBD may be a result of iron, vitamin B12 or folate deficiency; anemia of chronic disease and hemolytic anemia are other causes in these patients. Factors contributing to the development of anemia include chronic gastrointestinal blood loss, vitamin B12 malabsorption secondary to terminal ileitis, folate deficiency as a result of sulfasalazine therapy. Approximately 30% of patients with IBD have hemoglobin levels below 12 g/dl. The risk of developing anemia relates to disease activity, given that blood loss and inflammatory anemia are triggered by intestinal inflammation. In the management strategy of IBD patients with anemia it is important to distinguish between the different types of anemia in order to decide an appropriate manner of treatment.
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PMID:ANEMIA IN INFLAMMATORY BOWEL DISEASE MORE THAN AN EXTRAINTESTINAL COMPLICATION. 2712 70

Vitamin B12 and folate deficiencies are major causes of megaloblastic anemia. Causes of B12 deficiency include pernicious anemia, gastric surgery, intestinal disorders, dietary deficiency, and inherited disorders of B12 transport or absorption. The prevalence of folate deficiency has decreased because of folate fortification, but deficiency still occurs from malabsorption and increased demand. Other causes include drugs and inborn metabolic errors. Clinical features of megaloblastic anemia include anemia, cytopenias, jaundice, and megaloblastic marrow morphology. Neurologic symptoms occur in B12 deficiency, but not in folate deficiency. Management includes identifying any deficiency, establishing its cause, and replenishing B12 or folate parenterally or orally.
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PMID:Megaloblastic Anemias: Nutritional and Other Causes. 2818 72

Clinical copper deficiency is now more frequently recognized. Hematologically, it can present as anemia (microcytic, normocytic, or macrocytic) and neutropenia. Thrombocytopenia is relatively rare. Neurologically, it can manifest as myelopathy and peripheral neuropathy simulating subacute combined degeneration. Bone marrow findings can mimic myelodysplasia resulting in occasional inappropriate referral for bone marrow transplantation. Other conditions with similar presentations include infections, drug toxicity, autoimmunity, B12 deficiency, folate deficiency, myelodysplastic syndrome, aplastic anemia, and lymphoma with bone marrow involvement. Hematological, but not neurological, manifestations respond promptly to copper replacement, making early diagnosis essential for good outcome. Common risk factors for copper deficiency are foregut surgery, dietary deficiency, enteropathies with malabsorption, and prolonged intravenous nutrition (total parenteral nutrition). We present a unique case of copper deficiency, with no apparent known risk factors.
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PMID:Copper deficiency, a new triad: anemia, leucopenia, and myeloneuropathy. 2904 59

Celiac disease (CD) is a multisystemic disorder with different clinical expressions, from malabsorption with diarrhea, anemia, and nutritional compromise to extraintestinal manifestations. Anemia might be the only clinical expression of the disease, and iron deficiency anemia is considered one of the most frequent extraintestinal clinical manifestations of CD. Therefore, CD should be suspected in the presence of anemia without a known etiology. Assessment of tissue anti-transglutaminase and anti-endomysial antibodies are indicated in these cases and, if positive, digestive endoscopy and intestinal biopsy should be performed. Anemia in CD has a multifactorial pathogenesis and, although it is frequently a consequence of iron deficiency, it can be caused by deficiencies of folate or vitamin B12, or by blood loss or by its association with inflammatory bowel disease (IBD) or other associated diseases. The association between CD and IBD should be considered during anemia treatment in patients with IBD, because the similarity of symptoms could delay the diagnosis. Vitamin B12 deficiency is common in CD and may be responsible for anemia and peripheral myeloneuropathy. Folate deficiency is a well-known cause of anemia in adults, but there is little information in children with CD; it is still unknown if anemia is a symptom of the most typical CD in adult patients either by predisposition due to the fact of age or because biochemical and clinical manifestations take longer to appear.
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PMID:Multifactorial Etiology of Anemia in Celiac Disease and Effect of Gluten-Free Diet: A Comprehensive Review. 3165 3

Older people are at risk for cobalamin (vitamin B12) deficiency because of a number of common disorders (e.g., autoimmune gastritis) and drugs (e.g., antacids) that may alter its absorption and utilization. The prevalence of cobalamin deficiency increases with age, resulting, particularly elevated, in frail and institutionalized subjects. At variance with common sense, the diagnosis is far from simple. It requires a high degree of suspicion, due to heterogeneity and non-specificity of the signs and symptoms, ranging from macrocytosis (with or without anemia) to neuropsychiatric manifestations, that characterize several other aging-related disorders, like hematological malignancies, diabetes, hypothyroidism or vasculopathy. Furthermore, the detection of low levels of serum vitamin B12 appears poorly sensitive and specific. Other biomarkers, like serum homocysteine or methylmalonic acid, have improved the diagnostic possibilities but are expensive, not widely available, and may be influenced by some confounders (e.g., folate deficiency, or chronic renal failure). Early recognition and treatment are crucial since a proportion of patients develop severe complications, such as bone marrow failure and irreversible neurological impairment. High-dose oral treatment has proven to be as effective as the parenteral route, even in subjects with malabsorption, ensuring the complete resolution in the majority of cases. In this review, we trace the essential role of cobalamin in humans, the possible causes and impact of deficiency, the diagnostic challenges and the therapeutic options, between old and emerging concepts, with a particular focus on the elderly.
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PMID:Cobalamin Deficiency in the Elderly. 3267 May 21


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