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PubMed1988

Nontransferrin-bound iron in plasma from hemochromatosis patients: effect of phlebotomy therapy.

Plasma from patients with iron overload resulting from idiopathic hemochromatosis contains nontransferrin-bound iron, measurable by the bleomycin, assay. During venesection therapy, the concentration of bleomycin iron declines in a way highly correlated with plasma ferritin concentrations. Even when patients had been venesected to give very low total plasma iron concentrations and high transferrin iron-binding capacity, bleomycin-detectable iron was still present at low concentrations. Bleomycin-detectable iron can stimulate damaging free radical reactions, and its persistence in plasma even after prolonged venesection might contribute to the tissue damage that results from iron overload.

Adult↗
PubMed1989

[Neonatal hemochromatosis].

Neonatal hemochromatosis (NH) is a rare disorder characterized by signs of hepatic insufficiency. The rapidly progressive course terminates in death in-utero or in the early neonatal period. Histopathologically, there is increased tissue iron deposition in many organs, particularly the liver, pancreas, heart and endocrine glands, but the extrahepatic reticuloendothelial system is relatively unaffected. Cases of NH are distributed in a pattern consistent with an error of metabolism inherited as an autosomal recessive trait. We present a premature infant who died 44 days postpartum of severe hepatic failure. Postmortem examination established the diagnosis of NH.

Hemochromatosis↗
PubMed1989

[Physical work capacity studied by measured physical loading in patients with hereditary hemochromatosis].

A significant decrease of work fitness was revealed in 23 patients with verified diagnosis of hereditary hemochromatosis exposed to graded physical exercise. It is assumed that the decrease of exercise tolerance in these patients may be most possibly accounted for by the lowering of myocardial contractility as a result of its injury due to iron overload. It is not excluded, however, that nonspecific dystrophic processes determined by diabetes mellitus, liver damage and coronary atherosclerosis in some cases may develop.

Adult↗
PubMed1989

Bone involvement in primary hemochromatosis and alcoholic cirrhosis.

Biochemical indexes of bone metabolism, bone mineral density, and histomorphometry were evaluated in 14 male patients with noncholestatic cirrhosis due to primary hemochromatosis (six cases) or to chronic alcohol abuse (eight cases), and in 30 male controls of similar age. Alkaline phosphatase in alcoholic patients was significantly higher than in controls (mean +/- SD 50.4 +/- 33.7 vs 33.0 +/- 7.1 U/L, p less than 0.01), as was urinary hydroxyproline in both hemochromatotics and alcoholics (mean +/- SD, 44.3 +/- 8.4 and 40.4 +/- 16.8, respectively, vs 30.1 +/- 4.5 mg/g, p less than 0.001 and p less than 0.005). Bone mineral density was significantly lower in hemochromatotics than in alcoholics and controls (mean +/- SD, 591 +/- 90 vs 765 +/- 87 and 759 +/- 34 mg/cm2, respectively, p less than 0.005 and p less than 0.001). At bone biopsy, trabecular osteoporosis was observed in two hemochromatotics and four alcoholics, and osteomalacia was seen in another alcoholic. Overall densitometric and histomorphometric findings indicate a derangement of trabecular bone in both alcoholic and hemochromatotic cirrhosis, whereas cortical osteoporosis seems limited to hemochromatotic patients.

Alkaline Phosphatase↗
PubMed1989

Concomitant primary hemochromatosis and beta-thalassemia trait: iron depletion by erythrocytapheresis and desferrioxamine.

Six men and one woman with mild anemia due to beta-thalassemia trait and major iron overload attributable to concomitant primary hemochromatosis were treated by erythrocytapheresis to remove iron, combined with subcutaneous desferrioxamine in the four cases with greater iron load. Depletion was achieved by iron removal of 4.5-15.1 g after 9-24 months' treatment. No side effects were observed, suggesting that such a regimen is effective and safe in this particular subgroup of hemochromatotics.

Adult↗
PubMed1985

Cohort study of internal malignancy in genetic hemochromatosis and other chronic nonalcoholic liver diseases.

The risk of hepatocellular carcinoma (HCC) and other internal malignancies was examined in patients with genetic hemochromatosis (GH) by following 208 patients from the time of diagnosis to June 1983 and by comparing the numbers of cancers they developed with expected values constructed from cancer registry incidence data by means of actuarial methods. In addition, cancers occurring in a comparison group of 148 subjects with other chronic nonalcoholic liver diseases (CLD) were determined. Among the GH group, 16 new cases of HCC occurred subsequent to the diagnosis of GH, together with 8 other malignancies. The 16 cases of HCC reflect a 200-fold excess risk, which from all indications represents the first quantitation of the risk of this tumor in GH. There appears to be no increased risk of other malignancies in this disease. Among the CLD group only 1 HCC and 1 other malignancy occurred.

Adolescent↗
PubMed1988

[Modern diagnosis and treatment methods in hereditary hemochromatosis].

The authors followed-up 76 patients with hereditary hemochromatosis whose diagnosis was confirmed by morphological signs of liver, pancreatic, pulmonary, gastric, and myocardial changes. The most informative laboratory indices of iron metabolism were defined (transferrin saturation with iron and the level of ferritin in the serum and erythrocytes). HLA typing of probands and their relatives was recommended to specify the hereditary nature of disease.

Adolescent↗
PubMed1988

[Hemochromatosis: the clinical picture, diagnosis and treatment].

A survey of literature data and the author's own observation of 18 patients with hemochromatosis (H) have shown that H is a polysyndrome disease. Men aged 35 to 60 suffer more frequently. Its most significant symptoms and syndromes are skin hyperpigmentation, hypersideremia, liver cirrhosis, diabetes, cardiomyopathy, and endocrinopathy. Three variants in a course of H--mild, average severe and severe (complicated)--were defined with regard to the duration of disease, a degree of morphofunctional changes and insufficiency of the affected organs. Intravital diagnosis of H was possible in clinical awareness and in the detection of hypersideremia and hemosiderin in liver and skin biopsy specimens. Multimodality therapy (blood-letting, desferal and insulin) promoted compensation of metabolic derangement, stabilization and even regression of disease.

Adult↗
PubMed1987

[Extrapyramidal syndrome in idiopathic hemochromatosis. Significance of laboratory chemical, neurophysiologic and imaging procedures (CCT, MRT)].

In any patient with unexplained basal ganglia symptoms or dementia, the possibility of idiopathic hemochromatosis (IHC) should be considered. The findings of magnetic resonance tomography, discussed in this case report, lead to the conclusion that IHC is very likely to induce these syndromes. This is of clinical importance as IHC can be successfully treated by phlebotomy.

Aged↗
PubMedDate not supplied

Neonatal hemochromatosis: failure of deferoxamine therapy.

We describe a premature neonate with severe hepatic dysfunction from birth which progressed to fatal hepatic failure at 3 months of age. The diagnosis of a familial disorder, neonatal hemochromatosis, was made, and therapy was attempted with deferoxamine. Features of iron metabolism are presented, and this infant's illness is contrasted with other liver diseases of infancy associated with hepatic iron overload.

Deferoxamine↗
PubMed1985

[Acute abdomen with irreversible shock, a rare but typical complication of hemochromatosis].

Acute abdomen, irreversible shock and sudden death are a typical although infrequent complication in patients with hemochromatosis. The author presents a further case of this syndrome and discusses the two leading pathogenetic interpretations described in the literature: sudden release of ferritin, and endotoxin shock. Clinical and post-mortem findings from this patient and a review of 19 cases from the literature suggest that most patients with this syndrome die from a primary bacterial peritonitis with gram negative sepsis and endotoxin shock.

Abdomen, Acute↗
PubMed1979

[Bone histomorphometry and osteo-articular manifestations of idiopathic hemochromatosis].

An histomorphometric study of the bones was done on 28 patients suffering from an idiopathic hemochromatosis. There was a normocalcinemic hyperparathyroidism in half the cases. It appeared to be closely linked to hypersideremia and to be responsible for the sub-chondral arthropathy. The other lesions demonstrated were an osteoporous one, whose relations with hypogonadism was shown, and osteoidosis variations, which most often decreased rather than increased, and whose causes still seem uncertain.

Adult↗
PubMed1979

[Idiopathic hemochromatosis: current problems in diagnosis and therapy].

The main interest in idiopathic hemochromatosis (IH) currently centers more and more on early detection of the basic pathogenetic mechanisms of the disease, and on the prevention of organ lesions rather than therapy of the late syndrome. An understanding of the pathophysiology of this inborn error of iron metabolism, which is briefly outlined, enables the physician to motivate a still healthy potential IH patient for the simple but life-long therapeutic regimen (phlebotomy). The possible organ lesions of IH are briefly mentioned, and early recognition of arthropathy as a far from exceptional first symptom of the disease is emphasized. With regard to the detection of the latent disease, the practical value of liver biopsy, serum iron, the still debated serum ferritin, and the desferrioxamine test are discussed. Personal experience with a new and sensitive test for the screening of relatives, the cobalt absorption/excretion test, is also presented. After the recent clarification of the mode of inheritance of IH (autosomal recessive), the question arises whether heterozygote individuals, who obviously exhibit increased iron absorption, augmented transferrin saturation and an increased hepatic iron content, should also be treated prophylactically.

Adolescent↗
PubMed1979

[Hemochromatosis and puryvate kinase deficiency (author's transl)].

A 25-year-old man with familial pyruvate kinase (PK) deficiency who have been given only 6 transfusions during his lifetime died of cardiac failure from hemochromatosis (HC). This previously unreported association of PK and HC deficiency does not appear to be fortuitous but to be related to possible early hemolysis and intramedullary destruction, features of ineffective erythropoiesis. The role of splenectomy in the progression of the HC could, as in some thalassemias, be an unfavourable factor. Serum iron levels should therefore be measured during the course of AHPK.

Adult↗
PubMed1983

Staining for hemochromatosis.

The following describes a new method for staining liver tissue in hemochromatosis with cirrhosis of the liver. This new technique produces results that clearly and consistently provide excellent color contrast, depicting both fibrous tissue and hemosiderin on the same slide. The technique is equally valuable for routine surveys of any tissue that may contain hemosiderin pigments and fibrous collagenous tissue.

Hemochromatosis↗
PubMed1983

Idiopathic hemochromatosis.

The incidence of this mendelian recessive trait is higher than previously estimated. Idiopathic hemochromatosis is associated with certain HLA types. Early diagnosis and institution of a phlebotomy program can produce regression of all manifestations except hepatoma and arthritis. Screening, with determination of transferrin saturation greater than 60 percent, permits diagnosis before signs and symptoms appear. Serum ferritin determination is the best indicator of the course of the disease.

Bloodletting↗
PubMed1978

[Idiopathic hemochromatosis linkage with the HLA system (author's transl)].

Fourteen selected families containing two or more subjects suffering from idiopathic hemochromatosis and 34 unrelated cases have been studied for their HLA markers. A 3 was present in 75% of the unrelated cases vs 26% in the normal population (p less than 10(-8)). The frequencies of B 7 (38% vs 19%) and B 14 (23% vs 9%) were also increased (p lessthan 0,05). Inevitably, in most cases both antigens in the B locus were associated with A 3. Seven of nine affected sib pairs shared both HLA haplotypes, while two shared only one. Significant association between HLA haplotypes and diseases segregation has been demonstrated in family studies. These facts are consistent with the recessive inheritance of a strongly A 3 linked "disease" gene responsible for abnormal iron stores in the heterozygote state. This hypothesis would account for 64% of our present cases. Most of discordances (26%) were females who are physiologically protected, or children under 17 who might later develop the disease. The remaining 10% of disordant cases could be explained by crossing-over between "disease" gene and HLA loci or by an heterogeneity of the disease. This provides a method for screening for high risk subjects and perhaps an opportunity for anticipatory prevention.

Adolescent↗