Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Most, but not all, megaloblastic anemia is produced by "ineffective erythropoiesis" in the bone marrow due to either folic acid or vitamin B12 deficiency. In folic acid deficiency the cause frequently is inadequate dietary intake, whereas vitamin B12 deficiency is almost always conditioned by some specific type of malabsorption. Anemia with oval macrocytes, few reticulocytes, moderate leukopenia, and thrombocytopenia is typical of both. Aplastic anemia, refractory anemias with cellular marrow, preleukemia, aleukemia, and erythroleukemia may have somewhat similar blood findings but are usually recognizable from bone marrow biopsy. Decreased levels of folate or vitamin B12 are the most reliable criteria of megaloblastic anemia. With these available in advance, therapy with the appropriate vitamin can be begun at once. If serum levels are unavailable or available only in retrospect, initial treatment, especially of severe anemia, should be with both vitamins. Differentiation between folate and vitamin B12 deficiency is important but impossible by blood and bone marrow morphology alone. Thus, if serum levels are unavailable, the distinction must be made, sometimes retrospectively, on the basis of other laboratory examinations, such as gastric analysis, small-bowel x-ray films, and the Schilling test.
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PMID:Megaloblastic anemia. 70 1

A 25-year-old man, who was admitted for evaluation of arthralgia and fever of 2-weeks duration, complained of a 10 kg weight loss during the previous weeks. Systemic lupus erythematosus (SLE) was diagnosed on the basis of leukopenia, LE cells, antinuclear antibodies, antibodies to double-stranded DNA, and arthritis, Malabsorption was diagnosed because of the finding of hypoalbuminemia, fat droplets in the feces, a pathological D-xylose test, and an appropriate X-ray image. Approximately half the patients with SLE develop minor expressions of gastrointestinal tract involvement, such as nausea, vomiting, and diarrhea. Major manifestations, such as intestinal obstruction or perforation, ascites, peritonitis and pancreatitis have been reported with varying frequency. Despite the frequent association of SLE with gastrointestinal manifestations, malabsorption, as in this case, has rarely been reported.
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PMID:[Malabsorption in systemic lupus erythematosus]. 235 16

Three adult cases in which copper deficiency developed during long-term total parenteral nutrition (TPN) without copper supplementation have been described, together with a brief review of the literature. All three patients were suffering from malabsorption when TPN was instituted, and overt symptoms of copper deficiency developed an average of 5.8 months after the start of TPN. Clinically, leukopenia with neutropenia and low plasma levels of copper and ceruloplasmin were seen in all cases. The dosage of copper administration in these cases was 0.3 to 7.2 mg of copper/day, or 5.3 to 133 micrograms of copper/kg/day, with total doses of 7 to 176 mg of copper.
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PMID:Copper deficiency during total parenteral nutrition: clinical analysis of three cases. 250 79

Hematological abnormalities in scleroderma indicate a specific complication of the disease itself, or an associated illness. Among 180 patients with scleroderma, anemia was detected in 25% and was attributed to chronic inflammatory disease (usually an overlap syndrome), bleeding mucosal telangiectases as part of the CREST syndrome, intestinal malabsorption, and microangiopathic hemolysis. Leukocytosis, present in 14%, was correlated with active myopathy and/or advanced visceral involvement while leukopenia was suggestive of a crossover with systemic lupus erythematosus. Thrombocytopenia was often a manifestation of microangiopathy, and thrombocytosis was associated with an arteritis or a tumor syndrome.
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PMID:Hematological abnormalities in scleroderma. A study of 180 cases. 677 74

The high incidence of megaloblastic anemia observed at our institution (2.1% of hospital admissions) prompted us to analyze the causes of cobalamin and/or folate deficiency in 30 patients admitted during the period 1983-1991 to the Medical Department of Locarno District Hospital. The study population includes 19 women and 11 men with a mean age of 69 years (range 28-91 years). All patients had severe macrocytic anemia (mean hemoglobin 74 +/- 23 g/l, MCV 121 +/- 12 fl), striking megaloblastic changes in aspirated marrow, and an elevated serum level of LDH (2170 +/- 2150 U/l). 19 patients had associated thrombocytopenia, 12 leukopenia and 11 both thrombocytopenia and leukopenia. Treatment led to prompt reticulocytosis and correction of megaloblastic changes in all patients, as well as to nearly complete resolution of the neurologic disorder in a patient with severe spastic ataxia. In 15 patients, megaloblastic anemia was caused by folate deficiency related to alcoholism (n = 6, mean age 55 years) and old age or poverty (n = 9, mean age 73 years). Cobalamin deficiency was present in 9 patients (mean age 69 years); it was due to pernicious anemia in 6 patients and to malabsorption in 2, while the cause remained unexplained in 1. The last patients (mean age 76 years) had deficiency of both cobalamin and folate, related to alcoholism (n = 3) or poverty (n = 3).
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PMID:[Megaloblastic anemia: 30 cases in a district hospital]. 787 99

Leucopenia and diarrhoea are the main side effects observed after the use of mycophenolate mofetil (MMF) in renal-transplant patients. The mechanism of diarrhoea remains unknown. We report on four cases presenting with severe diarrhoea, which appeared, respectively, at 4, 10, 24, and 66 months after MMF therapy had been started. All patients presented with weight loss and biological signs of malabsorption syndrome. Oesophago-gastroduodenoscopy revealed duodenal villous atrophy, which was confirmed by pathology examination. Anti-endomysium antibodies were negative. In all patients, diarrhoea disappeared within 1 month of MMF withdrawal without a gluten-free diet. A control oesophago-gastroduodenoscopy was performed in one patient 6 months later and was considered normal. None of the patients showed evidence of cytomegalovirus in enterocytes or cytomegalovirus-positive viraemia. In conclusion, villous atrophy induced by MMF might be one of the mechanisms of diarrhoea. It is mandatory to differentiate coeliac disease from MMF-induced villous atrophy because, in the latter case, a gluten-free diet is not required.
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PMID:Villous atrophy induced by mycophenolate mofetil in renal-transplant patients. 1532 47

Copper is a trace mineral essential to hematopoiesis and to the structure and function of the nervous system. Copper deficiency is a rare cause of anemia, leukopenia, and myeloneuropathy, but should be considered in the differential diagnosis in a patient with prior gastrointestinal surgery. We report the case of a 51-year-old woman admitted for nonspecific neurologic symptoms ultimately found to be due to copper malabsorption.
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PMID:Copper deficiency as cause of unexplained hematologic and neurologic deficits in patient with prior gastrointestinal surgery. 1651 8

Celiac disease is a common systemic disorder that can have multiple hematologic manifestations. Patients with celiac disease may present to hematologists for evaluation of various hematologic problems prior to receiving a diagnosis of celiac disease. Anemia secondary to malabsorption of iron, folic acid, and/or vitamin B12 is a common complication of celiac disease and many patients have anemia at the time of diagnosis. Celiac disease may also be associated with thrombocytosis, thrombocytopenia, leukopenia, venous thromboembolism, hyposplenism, and IgA deficiency. Patients with celiac disease are at increased risk of being diagnosed with lymphoma, especially of the T-cell type. The risk is highest for enteropathy-type T-cell lymphoma (ETL) and B-cell lymphoma of the gut, but extraintestinal lymphomas can also be seen. ETL is an aggressive disease with poor prognosis, but strict adherence to a gluten-free diet may prevent its occurrence.
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PMID:Hematologic manifestations of celiac disease. 1697 55

Copper deficiency myelopathy is an important and treatable differential diagnosis of vitamin B12 deficiency, of degenerative diseases presenting with the cardinal sign ataxia, and less often of motor neuron diseases. We report a 30-year-old female who presented with progressive gait disorder and sensory disturbances in her feet. Neurological examination showed tetraparesis with spastic ataxia. Laboratory investigations showed malabsorption, anemia, and leukopenia. Further extensive diagnostic investigations revealed copper deficiency due to malabsorption as the probable cause of the neurological deterioration. After oral copper substitution was started, the progression of her neurological symptoms could be stopped.
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PMID:[Copper deficiency as a treatable cause of myelopathy]. 1827 21

Recently, drug shortages in the United States have affected multiple components of the parenteral nutrition (PN) solution. A 62-year-old patient with systemic sclerosis who was dependent on home PN due to intestinal dysmotility developed anemia and leukopenia approximately 4 months after parenteral copper was withheld from her PN solution due to drug shortages. The patient was not able to tolerate a sufficient amount of oral multivitamins with trace elements due to severe dysphagia. Her serum copper and ceruloplasmin concentrations were undetectable, confirming the diagnosis of severe copper deficiency. The hematological abnormalities promptly resolved with copper supplementation. This report emphasizes the importance of close monitoring for nutrient deficiencies during drug shortages and supplementing with oral or enteral nutrition when feasible, particularly in high-risk patients such as those with intestinal malabsorption or short bowel syndrome who are dependent on long-term PN.
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PMID:Anemia and leukopenia in a long-term parenteral nutrition patient during a shortage of parenteral trace element products in the United States. 2307 Jan 33


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