1/31. 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 = 1keywords = diabetes (Clic here for more details about this article) |
2/31. 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 = 1keywords = diabetes (Clic here for more details about this article) |
3/31. 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 = 4.9116098219632keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
4/31. Cardiac dysfunction because of secondary hemochromatosis caused by congenital non-spherocytic hemolytic anemia.Most patients diagnosed with secondary hemochromatosis have had repeated blood transfusions. Cardiac failure accounts for approximately one-third of the deaths associated with hemochromatosis. Liver dysfunction or hormonal disorders such as diabetes generally precede cardiac failure. A 23-year-old woman with hemochromatosis had, despite significant left ventricular dysfunction, liver function within the normal range on biochemical evaluation. She was treated for congestive heart failure and given desferoxamine intravenously. She did not have primary hemochromatosis, and had not received multiple blood transfusions or iron supplement. As a child the patient had been diagnosed with congenital non-spherocytic hemolytic anemia not requiring transfusion; thus, this is a unique case of secondary hemochromatosis.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
5/31. Multiple hepatic abscesses due to yersinia enterocolitica infection secondary to primary haemochromatosis.A case of hepatic abscesses due to yersinia enterocolitica in an immunocompetent male is presented. Re-examination after 3 months showed that the patient had primary haemochromatosis. Treatment with repeated phlebotomies was instituted. Two years after the patient was first admitted to hospital. 17.2 g iron had been removed and all haematological and biochemical parameters had returned to normal. Genetic analysis of the patients' two sons showed that one was positive for the chromosome defect found in primary haemochromatosis; further investigation is under progress. A study of the literature showed that prior to this case only 45 cases of hepatic abscess secondary to yersinia enterocolitica have been registered. Of the 45 reported cases, 64% had underlying haemochromatosis and 29% had diabetes mellitus. The overall mortality was 31%. mortality before 1987 was 60% (n = 20) and since 1987 it has been 8% (n = 25).- - - - - - - - - - ranking = 4.9116098219632keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
6/31. A homozygous HFE gene splice site mutation (IVS5 1 G/A) in a hereditary hemochromatosis patient of Vietnamese origin.The vast majority of Caucasian patients presenting with hereditary hemochromatosis demonstrate a single homozygous missense mutation in the HFE gene (C282Y). The underlying genetic defects in hemochromatosis patients of non-Caucasian origin are largely unknown. A 48-year-old man of Vietnamese origin presented with insulin-dependent diabetes mellitus, tertiary adrenocortical insufficiency, and laboratory results highly indicative of hereditary hemochromatosis. Because the patient was negative for the known HFE gene mutations C282Y, H63D, and S65C HFE, the entire coding region and intron/exon boundaries of the HFE gene was investigated. Sequencing studies identified a homozygous G-to-A transition at position 1 of intron 5 (IVS5 1 G/A). This newly described mutation alters the invariant G at position 1 of the 5' splice site causing altered mRNA splicing and exon skipping with exon 4 being spliced to exon 6. Both heterozygously affected children (age 19 and 20 years) had moderately increased ferritin levels with normal serum iron concentration and transferrin saturation. The newly described mutation was not detected in a control group consisting of 220 Caucasian individuals as verified by allele-specific polymerase chain reaction. We describe for the first time a homozygous HFE splice site mutation (IVS5 1 G/A) in a non-Caucasian patient with hereditary hemochromatosis. Although the absence of this novel HFE gene mutation in Caucasian subjects suggests that the mutation is exclusive to this family, mutation screening in populations of different ethnic background is recommended to precisely define its contribution to hereditary hemochromatosis in non-Caucasian patients.- - - - - - - - - - ranking = 4.9116098219632keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
7/31. Juvenile hemochromatosis in a Spanish family.Juvenile hemochromatosis (JH) is a characteristic form of genetic hemochromatosis with an early onset and severe clinical course leading to death if iron depletion treatment is not timely applied. Clinical complications include liver cirrhosis, heart failure, hypogonadotropic hypogonadism, and diabetes. In the present study we report the first case of JH described in spain. Biochemical and genetic characteristics of the patient and relatives (parents and siblings) were investigated. No individual presented either the mutation at position 845 of the HFE gene or at position 750 of the TFR2 gene, associated with other types of hemochromatosis. Nevertheless, some individuals were homozygous for the mutation at position 187 of HFE. The hypothetic region of association with JH, located at chromosome 1q, was also investigated and results show that the patient presented a unique genotypic combination in 1q. The only brother with heavy iron deposits in hepatocytes was found to be heterozygous for the JH-associated region and homozygous for the HFE187 gene, suggesting a synergistic effect between both hemochromatosis-associated genes.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
8/31. Nephrogenic diabetes insipidus associated with hemochromatosis.Although hemochromatosis is one of the most common genetic disorders in humans, the clinical information on iron-induced renal impairment is limited. We describe the clinical features of nephrogenic diabetes insipidus (NDI) observed in a case of hemochromatosis. A 57-year-old diabetic man was admitted to the hospital with a 6-month history of persistent polyuria, which had been sustained after glycemic optimization with insulin therapy and resulted in hepatic coma. Despite sufficient basal excretion of arginine vasopressin, impaired urinary concentrating capacity was observed, which could not be corrected by supraphysiologic doses of exogenous arginine vasopressin. Histochemical investigations showed widely distributed iron deposition in hepatocytes and moderately increased iron deposits in the tubular epithelium of distal urinary tubules and collecting ducts, suggesting that iron deposition resulting from hemochromatosis leads to NDI. This may be the first case report of NDI associated with hemochromatosis in humans. More attention should be paid to latent NDI as another complication of hemochromatosis.- - - - - - - - - - ranking = 5keywords = diabetes (Clic here for more details about this article) |
9/31. Liver ferritin subunit ratios in neonatal hemochromatosis.Neonatal hemochromatosis is an enigmatic disease. Little is known about iron metabolism in this disease, including the tissue concentration of ferritin or its H and L subunit ratio. The authors report the tissue iron, ferritin, and ferritin subunit content of a child who died at 5 weeks of neonatal hemochromatosis. The child was born at 29 weeks gestation to a mother with lupus, sickle cell trait, and gestational diabetes. The child's severe liver dysfunction led to the clinical diagnosis of neonatal hemochromatosis at 1 week of age. Despite aggressive support, including red cell transfusions and chelation, the child died of an intracranial hemorrhage. autopsy showed liver fibrosis and iron staining characteristic of neonatal hemochromatosis. autopsy liver tissue was compared to age-matched control tissue. Soluble protein was analyzed by the Bradford method. Soluble iron (over 90% of total iron) was analyzed by the o-phenanthroline complex. Tissue ferritin and human ferritin controls (Calzyme) were analyzed by Western blotting after SDS-PAGE, identified with sheep anti-human ferritin antibodies (The BindingSite) secondary antibody-fluorescence for detection, and quantified using the Molecular Dynamics Storm 840 phosphorimager and ImageQuant software. Protein, iron, and total ferritin were similar in the normal and neonatal hemochromatosis liver tissues. Ferritin subunits, however, showed an increased H/L-subunit ratio compared to an age-matched control. This first report of a marked increase in the ferritin H/L-subunit ratio may point to an underlying mechanism of disease in this enigmatic disorder.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
10/31. osteoporotic fractures: an unusual presentation of haemochromatosis.The association of haemochromatosis and osteoporosis is well established, but it is unclear whether this is due to iron overload, hypogonadism, liver disease, or diabetes mellitus. We describe a young eugonadal male patient with osteoporotic fractures as a presenting feature of haemochromatosis, suggesting that factors other than hypogonadism contribute to osteoporosis.- - - - - - - - - - ranking = 4.9116098219632keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
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