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PubMedDate not supplied

[Idiopathic hemochromatosis and gonadotropin secretion (author's transl)].

18 patients suffering from idiopathic hemochromatosis were studied. Plasma testosterone was stimulated by HCG. Basal plasma LH and FSH were significantly lower for the male group compared to healthy men. Lack of reponse of plasma LH and FSH after IV LHRH (100 microgram) was observed in 10 cases; among the patients with a normal response there were a postmenopausal woman, a 47 XXY syndrome, and the two youngest patients. Repeated infusions of LHRH (200 microgram/day x 5 d) did not increase LH in 8 out of 9 cases. Repeated plasma LH determination for 4 hours showed no pulsatile pattern in 6/7 patients. Plasma LH-RH measured in 7 cases was not elevated. The conclusion is that hypogonadism in hemochromatosis, when present, is related to a gonadotropin secretion defect, presumably of pituitary origin.

Female↗
PubMed1985

Escherichia coli bacteremia, meningitis, and hemochromatosis.

A 67-year-old man with Escherichia coli bacteremia and meningitis was found to have hemochromatosis. To my knowledge this is the first documented case of E coli meningitis occurring in the setting of hemochromatosis. The case raises issues regarding the role of chronic liver disease in the pathogenesis of gram-negative sepsis and the impact of iron loading on host immunocompetence and bacterial virulence.

Aged↗
PubMed1985

[A fatal disease of the heart in primary and secondary hemochromatosis].

In a 53 year-old man suffering from idiopathic hemochromatosis a massive myocardial siderosis occurred with disperse necroses and fibroses especially in subepicardial zone of the left ventricle. A similar picture was observed at secondary hemochromatosis in a 33 year-old woman with sideroblastic anemia after repeated blood transfusions. Both patients died of the failure of hypertrophic heart.

Adult↗
PubMed1979

[Hemochromatosis with a predominant lesion of the heart].

A fatal case of generalzyed hemochromatosis in a man of 30 was studied.The disease ran a course with the predominant involvement of the myocardium accompanied by circulatory insufficiency. At the end of the disease a large thrombus formed in the left ventrical cavity. No correlation between the biological tests pathognomonic for the disease (the normal iron and sugar content in the blood) and significant morphological changes in the visceral organs was observed. The familial predisposition to hemochromatosis was revealed.

Adult↗
PubMedDate not supplied

[Progressive multifocal leukoencephalopathy and hemochromatosis. Pathological study of a case (author's transl)].

A case of progressive multifocal leukoencephalopathy (P.M.L.) with humoral immunologic deficiency and hemochromatosis has been studied by light and electron microscopy. Widespread demyelination of white substance, gigantic astrocytes, inflammatory perivascular cuffs and numerous nuclear and cytoplasmic viral inclusions, suggesting Papovavirus were observed. The relationship between P.M.L. and hemochromatosis is discussed.

Adult↗
PubMed1984

Spontaneous Yersinia enterocolitica peritonitis in idiopathic hemochromatosis.

We report a case of spontaneous Yersinia enterocolitica peritonitis revealing idiopathic hemochromatosis in a 62-yr-old man with fever and diarrhea. Blood and stool cultures were repeatedly negative, but Yersinia enterocolitica serotype 9 was isolated from ascitic fluid and serum agglutinins against this organism were positive at a dilution of 1:2560. Moreover, a serum Brucella agglutination test was positive at a dilution of 1:320. Antibiotic therapy with doxycycline led to a rapid clinical improvement, with disappearance of the organism in the ascitic fluid. This case suggests that Yersinia enterocolitica infection must be suspected in any febrile abdominal syndrome occurring in patients with iron overload, such as thalassemia major or idiopathic hemochromatosis.

Ascitic Fluid↗
PubMed1984

Diagnostic efficacy of screening tests for hereditary hemochromatosis.

Hereditary hemochromatosis is transmitted as an autosomal recessive trait. Analyses of pedigrees suggest that the frequency of disease (proportion of homozygous individuals) in the general population is approximately 0.3% and that approximately 11% of the population are heterozygous. The genotype of 194 persons in 38 pedigrees was determined by HLA-A and HLA-B haplotyping. Likelihood analysis was then used to appraise the transferrin saturation test when used alone and in combination with the serum ferritin test to detect homozygosity and heterozygosity in these pedigrees. A single cut-off point of 55% for transferrin saturation and a cut-off point at the 90th percentile for the serum ferritin level were adequate for the detection of hemochromatosis if homozygosity was considered to be present when the results of one or both tests were positive. To further assess the value of the transferrin saturation test the percentages were stratified into five intervals. A percentage transferrin saturation of 75 or greater and a serum ferritin level above the 90th percentile ruled in homozygosity, whereas a percentage transferrin saturation of less than 55 and a serum ferritin level at or below the 90th percentile ruled it out with confidence. The probability of heterozygosity rose to 90% when the percentage transferrin saturation was between 35 and 55 and the serum ferritin level was at or below the 90th percentile. The use of five cut-off points allowed the probability of homozygosity and heterozygosity in a pedigree to be estimated for all values of transferrin saturation. Although these screening tests are not recommended for use in the general population, they may be worth while in selected groups of patients.

Adult↗
PubMedDate not supplied

[Iron chelate treatment of hereditary sideroblastic anemia complicated by hemochromatosis].

In a child with sideroblastic anemia complicated with hemochromatosis, iron overload was successfully treated with slow subcutaneous perfusion of deferoxamine. A 28 month-treatment resulted in the inversion of iron balance, which became negative, and the normalization of serum ferritin and abdominal CT scan. These results indicate that deferoxamine perfusion 12/24 hrs is able to restrict or even to remove the iron overload, previously responsible for hemochromatosis, a factor of mortality in this disease.

Adolescent↗
PubMed1983

Genetic and phenotypic expression of hemochromatosis in Canadians.

Twenty-three probands with idiopathic hemochromatosis were assigned the status of homozygotes: 132 of their relatives were classified as homozygotes, heterozygotes or normal individuals using the HLA haplotypes of the probands as markers of the hemochromatosis allele. Only half of the probands sought help because of symptoms or signs of iron overload. Clinical manifestations of iron loading were present, however, 95% of the probands and 67% of the discovered homozygotes. The commonest symptom was joint pain and stiffness. None of the heterozygotes had any clinical symptoms of excess body iron. High transferrin saturation and serum ferritin levels were prevalent in homozygotes: only 1 of 38 homozygotes had values for both of these measurements that were within normal limits. The level of transferrin saturation was increased in 6% of heterozygotes but only 1% had serum ferritin concns greater than 350 ng ml-1. The mean radioiron absorption levels of 27 homozygotes and 28 heterozygotes were similar to those in 44 controls. Radioiron absorption in relation to the respective serum ferritin concn was above the 95% confidence interval of controls in 65% of the homozygotes and 7% of the heterozygotes. The inverse relation between radioiron absorption and the respective serum ferritin concn observed in controls was absent in homozygotes but remained strong in the heterozygotes. Absence of the inverse relation indicates a deregulation of the iron absorptive mechanism in homozygotes which results in the size of body iron stores having no effect on the level of iron absorption.(ABSTRACT TRUNCATED AT 250 WORDS)

Absorption↗
PubMed1981

Hypogonadism in idiopathic hemochromatosis. Endocrine studies.

The mechanism of hypogonadism was studied in a 63-year-old man with idiopathic hemochromatosis. Basal levels of thyroid, prolactin, cortisol, and growth hormones were normal and responded normally to appropriate provocative stimuli. Basal testosterone and gonadotropin levels were low. There was inadequate gonadotropin response to luteinizing hormone-releasing hormone and clomiphene citrate stimulation. Testosterone response to human chorionic gonadotropin was normal. Hypothalamic-pituitary dysfunction resulting in impaired gonadotropin secretion appears to be the cause of hypogonadism in hemochromatosis.

Follicle Stimulating Hormone↗
PubMed1978

Hepatic iron clearance from serum in treated hemochromatosis.

Hepatic iron uptake from transferrin has been studied in 7 patients with treated hemochromatosis. When compared with a control group with similar serum iron and transferrin saturation the hemochromatotics had a significantly higher 4-hr iron uptake value. Uptake in the precirrhotic and cirrhotic hemochromatotics was not significantly different, suggesting the existence of a cellular abnormality of hepatic iron metabolism in this disease. The results provide an explanation for the development of siderosis in some patients with idiopathic hemochromatosis and a normal serum iron concentration.

Adult↗
PubMed1982

Ferritin synthesis in peripheral blood monocytes in idiopathic hemochromatosis.

RE ferritin synthesis in IHC was studied in M0s isolated from peripheral blood. Twelve phlebotomized hemochromatosis patients with normal body iron stores and 12 healthy control subjects were studied. M0s in culture were exposed to iron as either ferric ammonium citrate or iron dextran, and ferritin synthesis was determined by measurement of 3H-leucine incorporation after isolation of ferritin by a quantitative immunoadsorbent technique. Iron at concentrations of 150 and 300 microM induced de novo ferritin synthesis, increasing both 3H-leucine incorporation into ferritin and cellular ferritin content. However, no differences were observed between hemochromatosis and control M0s with respect to basal or iron-stimulated ferritin synthesis. The study has demonstrated that M0 ferritin synthesis in IHC does not differ from M0 ferritin synthesis in normal subjects and therefore suggests that the reported abnormalities in RE iron storage in IHC are not related to an inability of RE cells to synthesize ferritin.

Cells, Cultured↗
PubMed1982

Idiopathic hemochromatosis: serum ferritin concentrations during therapy by phlebotomy.

We report the case of a 54-year-old man who presented with symptoms of idiopathic hemochromatosis, an inherited disorder involving regulation of iron absorption. These symptoms usually do not appear until total body iron content reaches 15 g, about threefold normal. Therapy involves mobilization and removal of excess stored iron through weekly or twice-weekly phlebotomies of 500 mL, until the hemoglobin concentration becomes less than 110 g/L and remains there for several weeks, or until serum ferritin concentrations indicate that almost all the stored iron has been removed (ferritin less than 12 micrograms/L). Here, concentrations of ferritin in serum were used as an index to iron overload and removal of stored iron. We report changes in hemoglobin, serum ferritin, iron, and total iron-binding capacity during the course of removing by phlebotomy more than 20 g of iron from a patient with idiopathic hemochromatosis.

Bloodletting↗
PubMed1978

The thymus in hemochromatosis.

Although iron in cases of hemochromatosis has been described in virtually every organ, its presence in the thymus has only been rarely observed. While investigating all cases of hemochromatosis autopsied at The Johns Hopkins Hospital over the past decade, 4 adult cases in which the thymus was available for histologic study were examined in light of recent documentation of this organ's role in lymphopoiesis and secretory activity. Iron-containing moieties were found within both lymphocytes and epithelial cells of these involuted thymic glands. The thymic iron suggests either an uptake of iron moieties from the vascular pool or their synthesis within the cell itself. While the former mechanism provides evidence against the existence of an impermeable blood-thymus barrier, the latter supports the existence of a metabolically active gland with complex function.

Aged↗
PubMed1981

Ferritin in cultured fibroblasts from patients with idiopathic hemochromatosis.

Cultured skin fibroblasts from three unrelated patients with idiopathic hemochromatosis and two normal controls were cultured in media containing iron concentrations ranging from 383 to 963 ng/ml. The amount of ferritin accumulating in fibroblasts was related to the iron concentrations, but there was no significant difference in the fibroblasts of patients with hemochromatosis and the normal controls.

Cells, Cultured↗
PubMed1980

Primary hemochromatosis with hereditary spherocytosis.

A patient with both hereditary spherocytosis and hemochromatosis is described. At the time of the initial diagnosis of hereditary spherocytosis and shortly after splenectomy, 8 g of iron was removed by phlebotomy. During the next 15 years, the patient continued to accumulate excess iron despite splenectomy-induced remission of the hemolytic disorder. Thus the hemochromatosis in this patient was not secondary to the hereditary spherocytosis but rather represented a primary, ie, genetic abnormality of iron absorption.

Adult↗
PubMed1995

HLA-linked hemochromatosis and other forms of iron overload.

Inherited forms of iron overload are common. HLA-linked hemochromatosis and possibly African iron overload are associated with a significant risk of developing hepatocellular carcinoma. Early diagnosis and treatment, before substantial iron overloading occurs, reduces morbidity and mortality. HLA-linked hemochromatosis is easily diagnosed, and routine screening in European-derived populations may be appropriate.

Africa↗
PubMed1994

Hemochromatosis, multiorgan hemosiderosis, and coronary artery disease.

OBJECTIVE: To examine the prevalence of coronary artery disease (CAD) in autopsies of patients with iron-overload syndromes. DESIGN: Retrospective autopsy study of CAD in cases of hemochromatosis and multiorgan hemosiderosis. SETTING: Registry of nearly 48,000 autopsies performed at The Johns Hopkins Hospital between 1889 and 1992. SUBJECTS: One hundred twenty-three subjects were studied. In a 2:1 control-case ratio, 82 controls matched by age, race, and sex were compared with 41 cases with iron overload. MAIN OUTCOME MEASURE: Severity of CAD. RESULTS: Pathological description of the coronary arteries were recorded as advanced or severe in 12% of iron-overload cases (n = 41) (mean age, 57.6 +/- 13.2 years) compared with 38% of controls (n = 82) (mean age, 57.0 +/- 13.8 years) (P = .01). The prevalence of three-vessel disease assessed by postmortem coronary arteriography was 11.1% in iron-overload cases (n = 18) (mean age, 61.7 +/- 12.2 years) compared with 33.3% in controls (n = 36) (mean age, 61.1 +/- 12.5 years) (P = .04). The odds ratio of CAD with iron overload was 0.18 (95% confidence interval, 0.04 to 0.73). CONCLUSIONS: Iron overload resulting from hemochromatosis or multiorgan hemosiderosis is not associated with an increased prevalence of CAD.

Adult↗