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Query: UMLS:C0015672 (fatigue)
 51,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

ABSTRACT Genetically modified rice that incorporates twofold to threefold increased amounts of iron is being developed. The product could provide improved nutrition to iron-deficient persons but may be a health hazard to large numbers of humans who are prone to iron overload. Clinical disorders such as African siderosis, beta-thalassemia, hemochromatosis, and alcoholic siderosis are of special concern. Conditions associated with iron loading include fatigue and depression; arthritis; endocrine disorders such as stunted growth, impotence, and diabetes; gastrointestinal maladies; infections and malignancies; several neurological diseases; and, not least, cardiovascular system decay. Therefore, it would be prudent to label sacks of iron-enriched rice to indicate that "this product may be dangerous to persons with iron loading conditions".
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PMID:Iron-enriched rice: the case for labeling. 1923 76

The presentation of haemochromatosis is typified by abdominal pain, arthralgia and fatigue or weakness. Arthropathy may be the major presenting feature. The detection of an osteoarthritis-like process involving the metacarpophalangeal (MCP) and wrist joints in middle aged men should signal the possibility of under lying haemochromatosis. Other joints such as the shoulder, hip,knee or ankle may be affected. However, the preferential involvement of the second and third MCP joints is striking and may provide the opportunity for early identification of iron overload disease. The "iron salut" can be an efficient screening tool for this MCP joint arthropathy but it is not well known by clinicians.
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PMID:The 'iron salute' in haemochromatosis. 1928 50

Studies exploring the rate of fatigue in isolated muscle at 37 degrees C have produced mixed results. In the present study, muscle fibre bundles from the mouse foot were used to study the effect of temperature on the rate of muscle fatigue. Provided iron was excluded from the solutions, time to fatigue at 37 degrees C was increased compared to 22 degrees C (125 +/- 8% of 22 degrees C fatigue time). In contrast, when iron was present (approximately 1 microM), fatigue was accelerated (68 +/- 10%). Iron can increase reactive oxygen species (ROS), which are believed to accelerate fatigue. The addition of 25-100 microM H(2)O(2) at 22 degrees C reduced time to fatigue to 80-20% of the control, respectively. Iron was added to cultured primary skeletal muscle cells to determine if iron could increase ROS production. Neither iron entry nor ROS production were detected in non-contracting muscle cells. The addition of 8-hydroxyquinoline, which facilitates iron entry, to iron-ascorbic acid solutions caused a rapid rise in intracellular iron and ROS. Our results indicate that time to fatigue in vitro is increased at 37 degrees C relative to 22 degrees C, but the addition of ROS can accelerate fatigue. An increase in muscle iron can accelerate ROS production, which may be important during or following exercise and in haemochromatosis, disuse atrophy and sarcopenia.
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PMID:Time to fatigue is increased in mouse muscle at 37 degrees C; the role of iron and reactive oxygen species. 1947 Jul 79

A 58-year-old female patient was transferred by her general practitioner with fatigue, nausea and icterus which had begun 2 weeks prior to admission. Laboratory results revealed acute hepatitis (ALAT [alanine aminotransferase] 3,871 U/l, ASAT [aspartate aminotransferase] 2,004 U/l, bilirubin 6.7 mg/dl, gamma-GT [gamma-glutamyl transferase] 503 U/l). The patient's medical history included genetic hemochromatosis (without cirrhosis). Hepatitis A to C, infection with herpesviruses or Leptospira interrogans were excluded by serologic and molecular biological tests. There was no diagnostic evidence for underlying autoimmune or additional metabolic liver disease. Due to a trip to Africa 5 months earlier, the patient was tested for hepatitis E, leading to positive anti-hepatitis E-IgM and negative anti-hepatitis E-IgG. PCR (polymerase chain reaction) detection of hepatitis E virus (HEV) was positive as well. In conclusion, acute HEV infection was diagnosed. After close reconsideration, the nonfitting incubation period precluded a travel-associated infection. Additionally, there was no evidence for current HEV infections within the patient's social environment, so that a zoonotic origin has to be discussed.
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PMID:[Rare acute hepatitis in a female patient with hemochromatosis: a zoonosis?]. 2045 55

A man in his late 40s, referred by his general practitioner (GP) to a psychology-led pain management programme, made a subjective and spontaneous report of cognitive impairment. He further mentioned a ten year history of erectile dysfunction, joint pain, occasional nausea and excessive fatigue. He underwent cognitive assessment. Advised to return to his GP to seek further investigation, he was ultimately subsequently diagnosed with haemochromatosis and began radical therapeutic venesection. Repeat cognitive assessment, a year later and following stabilisation of the condition, found improvement on some cognitive measures. Subjective report was of vastly improved cognitive function.
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PMID:Ironing out the rough spots--cognitive impairment in haemochromatosis. 2276 Dec 28

Severe fatigue is a common complaint among patients. This report presents a clinical case of a woman complaining of fatigue associated with diarrhea and myalgia that were first attributed to emotional stress and depression. Initially, the patient was diagnosed with chronic fatigue and irritable bowel syndrome. The patient followed nutritional and physical exercise programs without any improvement. Other clinical conditions, such as nutritional deficiencies, endocrine dysfunctions, autoimmune diseases and neoplasias, were then assessed. During clinical investigation, serum ferritin and iron levels were abnormally elevated despite normal hemoglobin levels, which pointed to an iron overload syndrome later diagnosed as hemochromatosis. It is possible that the symptoms were triggered by the amenorrhea caused by the levonorgestrel-releasing intrauterine system used for contraception.
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PMID:Levonorgestrel-releasing intrauterine system and iron overload syndrome. 2384 14

Iron uptake, utilisation, release and storage occur at the gene level. Individuals with variant forms of genes involved in iron metabolism may have different requirements for iron and are likely to respond differently to the same amount of iron in the diet, a concept termed nutrigenetics. Iron deficiency, iron overload and the anemia of inflammation are the commonest iron-related disorders. While at least four types of hereditary iron overload have been identified to date, our knowledge of the genetic basis and consequences of inherited iron deficiency remain limited. The importance of genetic risk factors in relation to iron overload was highlighted with the identification of the HFE gene in 1996. Deleterious mutations in this gene account for 80-90% of inherited iron overload and are associated with loss of iron homeostasis, alterations in inflammatory responses, oxidative stress and in its most severe form, the disorder hereditary haemochromatosis (HH). Elucidation of the genetic basis of HH has led to rapid clinical benefit through drastic reduction in liver biopsies performed as part of the diagnostic work-up of affected patients. Today, detection of a genetic predisposition in the presence of high serum ferritin and transferrin saturation levels is usually sufficient to diagnose HH, thereby addressing the potential danger of inherited iron overload which starts with the same symptoms as iron deficiency, namely chronic fatigue. This review provides the scientific back-up for application of pathology supported genetic testing, a new test concept that is well placed for optimizing clinical benefit to patients with regard to iron status.
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PMID:Pathogenic Mechanisms Underlying Iron Deficiency and Iron Overload: New Insights for Clinical Application. 2768 35

Interpretation of laboratory parameters in cases of haemochromatosis can be difficult. Here, we describe two patients with markedly elevated transferrin saturation and high ferritin levels. The first patient is a 51-year-old woman who had been complaining of fatigue, abdominal pain and arthritis for three years. Her liver enzymes were mildly elevated. Secondary causes of iron overload had been excluded. DNA investigation found a homozygous p.Cys282Tyr mutation in the HFE protein, consistent with hereditary haemochromatosis. The second patient is a 58-year-old man with general malaise and cholestatic liver injury. The p.Cys282Tyr and p.His63Asp mutations in the HFE protein could not be detected. Ultrasound of the liver revealed steatosis. The patient was a heavy drinker and a diagnosis of iron overload caused by alcoholic liver disease was made. Based on these case reports, we discuss the strategy to diagnose haemochromatosis and the background of associated laboratory tests.
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PMID:[Diagnosis of haemochromatosis]. 2914 99

A 45-year-old man presented with fatigue and pain in the finger joints. Despite having a history of suspected sideroblastic anemia since the age of 18 years, he had not been followed up for years. Upon presentation, laboratory data revealed microcytic anemia and elevated serum ferritin levels. In addition, ringed sideroblasts were increased in the bone marrow. A liver biopsy revealed hemochromatosis and cirrhosis. Furthermore, genetic analysis revealed that he harbored the ALAS2 R452H mutation, leading to the diagnosis of X-linked sideroblastic anemia (XLSA). Accordingly, oral folate or vitamin (Vit) B12 was administered, but his anemia did not respond. However, his hemoglobin level increased from 7 to 11 g/dl with an additional prescription of oral VitB6, which facilitated the patient to undergo phlebotomy to ameliorate organ dysfunctions caused by iron overload. Previous research has revealed that ALAS2 R452 mutations confer poor responses to VitB6 therapy. Hence, accrual of patients with an unexpectedly better response, which was observed in our case, may help elucidate the pathogenesis of and therapies for XLSA.
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PMID:[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6]. 2974 99

Genetic haemochromatosis is an autosomal recessive disorder, mostly due to HFE gene mutation, leading to loss of hepcidin and unregulated iron loading. The consequences include hepatic fibrosis, cardiomyopathy and skin pigmentation, and these sequelae along with fatigue may be prevented by 'de-ironing'. Joint pain is frequently reported at diagnosis and an arthropathy that is essentially accelerated osteoarthritis may develop, with onset at a younger than expected age, involvement of typical and atypical joints, such as metacarpophalangeal and ankle, exuberant osteophytes and rapid progression to cartilage loss and the need for arthroplasty. The arthropathy differs from the other features in not responding to de-ironing, new joints becoming affected once patients are in maintenance, and, intriguingly, classic cases occur in the absence of iron overload with major and minor HFE mutations. These anomalies present a conundrum that raise the question whether HFE mutations have an arthritogenic consequence independent of hepcidin and iron.
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PMID:Haemochromatosis arthropathy - a conundrum of the Celtic curse. 3019 11


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