1/57. Effect of venesection on bone mineral density in an eugonadal woman with haemochromatosis.BACKGROUND: A 41-year-old premenopausal woman with newly diagnosed haemochromatosis was found to have osteopenia on screening bone mineral densitometry. methods AND RESULTS: Liver biopsy showed grade 3 haemochromatosis with an hepatic iron index of 4. Investigation for secondary factors for osteopenia revealed no cause. The patient was clinically and biochemically eugonadal. Following venesection of 8 L blood (4 g iron) over 17 months and calcium supplementation, her bone density rose significantly. neck of femur bone density increased by 6.0% over 13 months and lumbar vertebral bone density increased by 7.2%. There are no previous reports of response of bone density to venesection in eugonadal patients or in women with haemochromatosis.- - - - - - - - - - ranking = 1keywords = venesection (Clic here for more details about this article) |
2/57. Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C. All probands were clinically pyridoxine-responsive. The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather. There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder. One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote. The clinical and hematologic histories of two XLSA probands suggest that iron overload suppresses pyridoxine responsiveness. Notably, reversal of the iron overload in the Y199H proband by phlebotomy resulted in higher hemoglobin concentrations during pyridoxine supplementation. The proband with the R452C mutation was symptom-free on occasional phlebotomy and daily pyridoxine. These studies indicate the value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands in order to prevent a downward spiral of iron toxicity and refractory anemia.- - - - - - - - - - ranking = 0.38860190934564keywords = phlebotomy (Clic here for more details about this article) |
3/57. Secondary hemochromatosis as a long-term complication of the treatment of hematologic malignancies.The increased cure rate of hematologic malignancies including the use of bone marrow transplantation has focused attention on the chronic toxicity and quality of life of the survivors. We have observed five patients who have been diagnosed with clinically significant iron overload, presumably due to packed red blood cell transfusions, >/=12 months after transplant for a hematologic malignancy. In these patients, there is no history of veno-occlusive disease or family history of hemochromatosis. The allotransplant patient has been free of chronic graft versus host disease. family screening has been negative. No patient developed clinically significant endocrinopathy, arthropathy, or cardiac disease. The patients have been treated with phlebotomy to bring the transferrin saturation and ferritin levels to normal. The long-term follow-up of patients treated for a hematologic malignancy should include analysis of hepatitis c virus and iron status. This may prevent the development of clinically significant chronic liver disease and possibly malignancy.- - - - - - - - - - ranking = 0.055514558477949keywords = phlebotomy (Clic here for more details about this article) |
4/57. Hepatocellular carcinoma arising in the absence of cirrhosis in genetic haemochromatosis: three case reports and review of literature.Genetic haemochromatosis constitutes a high risk factor for the development of hepatocellular carcinoma. It is widely accepted that venesection prevents the evolution of cirrhosis in haemochromatosis and indirectly protects against the development of hepatocellular carcinoma. Clinical, pathological and radiological data are presented on three patients who did not conform to the 'siderosis-cirrhosis-carcinoma' sequence and in whom prompt and adequate iron depletion did not prevent the development of cancer. This is the first report of hepatocellular carcinoma intervening in non-cirrhotic liver in two siblings with genetic haemochromatosis. The current literature on the subject is reviewed. The direct oncogenic role of iron remains to be elucidated. Hepatocellular carcinoma should be considered as a differential diagnosis in patients with non-cirrhotic genetic haemochromatosis who present with clinical deterioration during the course of an otherwise uneventful venesection programme.- - - - - - - - - - ranking = 0.33333333333333keywords = venesection (Clic here for more details about this article) |
5/57. Hereditary hemochromatosis: diagnosis and treatment in primary care.Hereditary hemochromatosis (HHC) is one of the most common inherited disorders in the Caucasian population. diagnosis usually made after an elevation in ferritin and serum transferrin saturation is noted, often accompanied by asymptomatic hepatomegaly. diagnosis is confirmed by genetic testing or liver biopsy. Damage to organs is due to excessive intestinal iron, which is transported to and then deposited in the liver parenchyma, and the heart, skin, and endocrine organs, causing skin pigmentation, development of cirrhosis and hepatic carcinoma, diabetes and endocrine failure, and heart failure. Bony changes can be manifested by arthritis, often in non-weight-bearing joints. The treatment of HHC is phlebotomy, which depletes iron stores. When diagnosis is made before organ damage occurs, treatment can prevent manifestations of the disease. skin pigmentation and some cardiac damage may reverse on depletion of iron stores, but liver and endocrine damage is rarely reversible. Arthropathy is also not reversible, and often continues to progress even with effective treatment. When hemochromatosis is diagnosed, all first degree relatives of the patient should undergo genetic testing. With early detection and treatment this can be a manageable chronic disease. If undetected, it is potentially fatal.- - - - - - - - - - ranking = 0.055514558477949keywords = phlebotomy (Clic here for more details about this article) |
6/57. cholangiocarcinoma arising in Von Meyenburg complex associated with hepatocellular carcinoma in genetic haemochromatosis.A 61-year-old man had a liver resection for a bilobar mass thought to be, by imaging techniques, an hepatocellular carcinoma. He had been treated for the last 12 years by venesections for genetic haemochromatosis complicated by well-compensated cirrhosis. At surgery, prothrombin time and platelet count were normal, as was alpha-fetoprotein. On the resected specimen, the non-tumoral liver was not cirrhotic; septal fibrosis was present as well as mild iron overload and numerous Von Meyenburg complexes. The bilobar tumour was composed of two different parts: one was a cholangiocarcinoma arising from Von Meyenburg complexes, the other was a moderately differentiated hepatocellular carcinoma with a partially invaded capsule. The two tumours, in close proximity, did not communicate. This observation raises three questions: the relative risk of primary liver cancer including both hepatocellular carcinoma and cholangiocarcinoma in haemochromatosis without cirrhosis; the development of cholangiocarcinoma from Von Meyenburg complexes; the reversibility of cirrhosis in treated patients.- - - - - - - - - - ranking = 0.16666666666667keywords = venesection (Clic here for more details about this article) |
7/57. Juvenile hemochromatosis associated with B-thalassemia treated by phlebotomy and recombinant human erythropoietin.Juvenile hemochromatosis is a rare genetic disorder that causes iron overload. Clinical complications, which include liver cirrhosis, heart failure, hypogonadotropic hypogonadism and diabetes, appear earlier and are more severe than in HFE-related hemochromatosis. This disorder, therefore, requires an aggressive therapeutic approach to achieve iron depletion. We report here the case of a young Italian female with juvenile hemochromatosis who was unable to tolerate frequent phlebotomy because of coexistent ss-thalassemia trait. The patient was successfully iron-depleted by combining phlebotomy with recombinant human erythropoietin.- - - - - - - - - - ranking = 0.3330873508677keywords = phlebotomy (Clic here for more details about this article) |
8/57. Hepatic iron overload in aceruloplasminaemia.We report the case of a 52 year old male with diabetes mellitus and long standing evidence of hepatic iron excess. Initially considered to have haemochromatosis, this patient was reevaluated when hepatic iron stores were found to be unaffected by a prolonged course of weekly phlebotomy. The development of neurological disease prompted diagnostic consideration of aceruloplasminaemia, which we confirmed by demonstration of a novel frameshift mutation in the ceruloplasmin gene. Our inability to resolve the patient's iron overload by regular phlebotomy is consistent with recent animal studies indicating an essential role for ceruloplasmin in cellular iron efflux. Evaluation of this case underscores the clinical relevance of aceruloplasminaemia in the differential diagnosis of hepatic iron overload and provides insight into the pathogenetic mechanisms of hepatocellular iron storage and efflux.- - - - - - - - - - ranking = 0.1110291169559keywords = phlebotomy (Clic here for more details about this article) |
9/57. Cardiac transplantation in a patient with hereditary hemochromatosis: role of adjunctive phlebotomy and erythropoietin.We describe the case of a 36-year-old woman with hereditary hemochromatosis (HH) resulting in end-stage cardiomyopathy and treated successfully with orthotopic cardiac transplantation. Before and after transplantation, the patient underwent aggressive treatment with frequent phlebotomy. We used erythropoietin concomitantly to maintain adequate hematocrit to support continued phlebotomy. We believe that aggressive use of phlebotomy provided the patient hemodynamic benefit and hastened the return of endocrine function post-transplantation. We also believe that the patient's history of high-dose vitamin C usage may have accelerated iron deposition in the heart and other vital organs.- - - - - - - - - - ranking = 0.38860190934564keywords = phlebotomy (Clic here for more details about this article) |
10/57. Successful treatment of erectile dysfunction and infertility by venesection in a patient with primary haemochromatosis.A 36-year-old patient with primary haemochromatosis presented with erectile dysfunction. Laboratory findings revealed reduced levels of luteinizing hormone (0.4 IU/l; normal range 2-12 IU/l), follicle-stimulating hormone (0.1 IU/l; normal range 1-12 IU/l) and testosterone (0.49 microg/l; normal range 2-8.1 microg/l). We made the diagnosis of secondary hypogonadism due to haemochromatosis, which is generally supposed to be irreversible. Due to consequent venesection therapy, levels of ferritin and transferrin saturation could be normalized, and levels of luteinizing hormone and follicle-stimulating hormone increased to normal ranges. Also, testosterone levels became normal and remained so without any androgen substitution. The patient subsequently regained erectile function and potency. This case underlines the fact that a hypogonadotrophic hypogonadism caused by iron overload can be reversed by a consequent venesection therapy.- - - - - - - - - - ranking = 1keywords = venesection (Clic here for more details about this article) |
| | Next -> |