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PubMed2000

[Is diabetes mellitus a sufficient condition to suspect hemochromatosis?].

Genetic Hemochromatosis (GH) is a highly prevalent autosomal recessive disorder, which outcome has been dramatically improved by early phlebotomy. Attempts to screen for the disease, using biological and genetic approaches, are currently under evaluation. Diabetes mellitus often complicates GH. However, as it occurs late in the course of the disease, in most cases when cirrhosis is already present, its usefulness for the screening of GH seems reduced. Diabetes mellitus, when isolated, appears also as a poor predictor of hemochromatosis. Indeed, the risk of being carrier of the disease is not increased in diabetic patients compared with non diabetic sujects. This risk is however highly enhanced by the co-existence of cirrhosis. Thus, in the face of a newly diagnosed diabetes mellitus, the search for hemochromatosis must be performed only when it associates with cirrhosis or with other evocative clinical conditions.

Diabetes Complications↗
PubMedDate not supplied

[Significance of "minor" genetic mutations in hereditary hemochromatosis: 2 case reports].

We describe a case of homozygosity due to the substitution of aspartic acid with histidine at position 63 of the protein encoded by the gene (known as HFE) associated with hereditary hemochromatosis. Liver biopsy did not disclose stainable iron accumulation; serum ferritin was elevated (639 ng/mL), while the transferrin saturation index was within the normal range (38.1%). As the patient was affected by chronic hepatitis C virus, the high serum ferritin could be attributed to this disease, a frequent occurrence. We also describe a case of heterozygosity for both the substitution of tyrosine with cysteine at position 282 and the substitution of histidine to aspartic acid at position 63 (so-called "compound heterozygosity"). The patient had the typical biochemical abnormalities of iron overload: transferrin saturation index of 53.1% and elevated serum ferritin (658 ng/mL). The removal of > 5 g of iron by phlebotomies did not precipitate iron deficiency. Although the patient refused to undergo liver biopsy, clinical evidence alone enabled a diagnosis of hemochromatosis. These two cases concord with the present scientific orientation, i.e.: 1) homozygosity for the major mutation is associated with the phenotypical (clinical) picture of hemochromatosis, but compound heterozygosity also determines significant iron metabolism abnormalities; 2) homozygosity for the minor mutation does not appear to determine important phenotypical abnormalities.

Adult↗
PubMed2000

Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia.

Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed the definition of the coexistence of the 2 diseases, both responsible for the iron overload. This report points out the need to consider congenital dyserythropoietic anemia in patients with hemochromatosis and unexplained macrocytosis and, conversely, to check for the presence of hereditary hemochromatosis in patients with congenital dyserythropoietic anemia and severe iron overload. To the authors' knowledge, this is the first report of homozygosity for the C282Y mutation of the HFE gene in a patient affected by congenital dyserythropoietic anemia.

Adult↗
PubMed2000

[Diagnosis of hemochromatosis with magnetic resonance].

Hemochromatosis is a disorder of parenchymal iron overload. The diagnosis is based upon clinical manifestations, laboratory findings and iron concentration in liver. Magnetic resonance imaging (MRI) shows a decrease in liver signal intensity. Its role has not been already defined. Nonetheless, ratio of liver to muscle proton density (LMPD) shows a significant correlation with hepatic iron. One patient with a long-standing cirrhosis with data of hemochromatosis whose coagulation study did not allow to perform a liver biopsy was diagnosed with this method. Hepatic iron concentration was calculated based upon: microgram/g of hepatic iron = (-5.174* LMPD) + 9.932. MRI can be useful in the evaluation of hemochromatosis among patients who refuse or have contraindication to liver biopsy.

Aged↗
PubMed2001

Diabetic ketoacidosis and hypogonadotropic hypogonadism in association with transfusional hemochromatosis in a man with beta-thalassemia major.

We report a 23-year-old man with beta-thalassemia major and transfusional hemochromatosis, which manifested as diabetic ketoacidosis and hypogonadotropic hypogonadism. This unusual presentation of diabetic ketoacidosis in hemochromatosis has rarely been reported. Magnetic resonance imaging of the abdomen showed decreased signal intensity in the liver, spleen, and pancreas. In addition, the pituitary gland also showed heterogeneous low signal intensity, compatible with hemochromatosis. He was treated with insulin supplements and pulsatile human chorionic gonadotropin administration. Clinical improvement was noted after hormone replacement. Intensive iron chelation therapy was given to prevent cardiac complications, and to restore his gonadal function. During follow-up, the patient experienced improvement in libido and sexual potency.

Adult↗
PubMed2001

[Genetic epidemiology and HLA survey of primary hemochromatosis among Chinese Miao ethnic].

OBJECTIVE: To evaluate the inheritance modes and the genetic factors of primary hemochromatosis on its etiology among throngs of Chinese Miao nationality in causing the disease and to study the relation between the relevant susceptible gene and HLA linkage. METHODS: To investigate of the genetic epidemiology among some throngs of pure Miao nationality in western Human and the neighbouring areas was carried out and analysis of identical HLA haplotype and Lods was made. RESULTS: The population morbidity of this disease in this area is 0.48%. Twenty-four patients found in four families had high plasma glucose levels, and apparently high serum total iron and serum transferrin. The prevalence of hemochromatosis was 44.45% by analysis on the first degree and second degree relatives of the 24 patients. The individual marking of HLA ranges from locus A1, A2 to A3. CONCLUSION: HLA haplotype shows obvious deviation from random distribution, which indicates that there exists linkage between HH pathogenic gene and HLA. The results of genetic analysis in this disease group suggest that hemochromatosis is an autosomal dominant inheritance but not autosomal recessive inheritance disease.

Adolescent↗
PubMed2001

Neonatal (perinatal) hemochromatosis.

Autopsy findings are described of six cases (from four families) of neonatal hemochromatosis, a defect featured by severe prenatal iron storage in the liver and in a number of visceral organs similarly as in the hereditary adult-type hemochromatosis. Genetically, the two disorders are different, however. All the cases showed a characteristic liver damage with heavy iron deposits in the liver cells, lobular disarray and intralobular fibrosis, tendency towards multinuclear hepatocyte formation, ultimately resulting in pigmented cirrhosis and liver failure. In five instances the cirrhosis present was atrophic, in one case it was hepatomegalic. Death occurred prenatally in one case (31st week), perinatally in three, and two cases died as young infants. The mechanism of the liver disorder, mainly that of iron accumulation, has remained unresolved. Extrahepatally, hemosiderosis affected various epithelia (in particular, thyreocytes, renal distal tubular epithelia and those of pancreatic acini) and myocardial cells which, however, did not show any damage. In two instances the placenta was conspicuously hyperplastic, in one case it showed prominent hydropic transformation of its villi. In one case there was simultaneous cytomegaly. Entities which must be considered in the differential diagnosis of neonatal hemochromatosis because of considerable hepatic and extrahepatic iron accumulation have been discussed.

Adult↗
PubMed2002

[Acute portal thrombosis revealing hereditary hemochromatosis: report of a case].

The authors report the case of a 49-year old man in whom an inaugural portal vein thrombosis led to the diagnosis of hereditary hemochromatosis. In this case, the increase in ferritinemia and the T2-weighted MRI hepatic segmental hyposignal were considered as consequences of tissular necrosis while they did probe a real iron overload. Genetic testing, revealing C282Y/H63D compound heterozygoty, provided evidence for a diagnosis of hereditary hemochromatosis. Weekly venesections induced a calculated iron depletion of 3.5 g without occurrence of anemia, further supporting the diagnosis. We suggest that hemochromatosis should be considered in the differential diagnosis of idiopathic portal vein thrombosis when signs of abnormal iron accumulation exist.

Acute Disease↗
PubMed2002

Diagnosis of hemochromatosis.

Hereditary hemochromatosis is an inherited disorder of iron metabolism affecting approximately 1 in 200 to 300 individuals of Northern European descent. Over time, the continued deposition of iron in parenchymal cells of many organs can eventually lead to diabetes mellitus, cardiomyopathy, and hepatic cirrhosis, the last of which is frequently followed by hepatocellular carcinoma. Although the complications of hereditary hemochromatosis can be devastating, its clinical management is simple and effective if the disease is identified early in its progression. In affected individuals, it is important to confirm or exclude the presence of cirrhosis and begin therapy as early as possible. The insidious onset and high prevalence of nonspecific symptoms in the early stages of the disease requires the clinician to have a high index of clinical suspicion for this disease. This is particularly important because treatment before there is permanent organ damage can reverse the iron toxicity and restore life expectancy to normal. Because of its familial occurrence all first-degree relatives of patients with hereditary hemochromatosis should be tested for the disease.

Diagnosis, Differential↗
PubMed1992

[A case of idiopathic hemochromatosis associated with gastric cancer].

A 76-year-old male was admitted to our hospital because of general fatigue in June 1987. He had received total gastrectomy against gastric carcinoma two years previously. The examinations revealed the elevation of GOT, GPT and gamma-GTP, and increased CT number of the liver. Specimen of the liver biopsy showed deposition of iron and slight fibrosis. He was diagnosed as idiopathic hemochromatosis. He was given deferoxamine, and his elevated GOT, GPT and gamma-GTP were normalized. Idiopathic hemochromatosis is frequently associated with various malignancies including hepatic carcinoma. However, only a few cases of idiopathic hemochromatosis associated with gastric carcinoma have been reported.

Adenocarcinoma↗
PubMed1992

Primary hypothyroidism and multiple endocrine failure in association with hemochromatosis in a long-term hemodialysis patient.

A 56-year-old male patient on chronic hemodialysis developed liver cirrhosis. He received a total of 20 liters of blood transfusion. Bronze pigmentation of the skin and iron deposition to the liver, spleen, pancreas and thyroid gland, which was demonstrated by computed tomography and magnetic resonance imaging studies, and histological demonstration of iron deposition to the thyroid gland, bone marrow and gastric mucosa established a diagnosis of secondary hemochromatosis. Endocrine work-up revealed the presence of diabetes mellitus with minimum insulin secretory response, primary (or thyroprivic) hypothyroidism, hypoparathyroidism and hypogonadotropic hypogonadism. A wide-spread endocrine involvement as seen in this patient is a rare clinical feature of hemochromatosis secondary to massive blood transfusion in hemodialysis patients. Particularly, primary hypothyroidism due to iron deposition to the thyroid gland was quite a rare feature of hemochromatosis.

Diabetes Mellitus↗
PubMed2005

[Specific cardiomyopathy in patients with hemochromatosis].

The paper contains data on specific features of cardiac involvement in primary and secondary hemochromatosis (symptomatology, echocardiographic signs, etc.) as well as on pathogenesis of hereditary hemochromatosis. Algorithm of diagnosis of hereditary hemochromatosis is also presented.

Cardiomyopathies↗
PubMed1992

[Arthropathy due to hemochromatosis: often inaugural manifestation of the disease].

Idiopathic hemochromatosis is a recessive autosomal disorder of iron metabolism manifested by a tissue overload affecting many organs, including the liver, the heart, the endocrine glands and the joints. Of 53 patients we studied, 66% had articular symptoms (mainly arthralgias of the metacarpophalangeal joints) and 49% had radiological lesions such as chondrocalcinosis and structural joint damage. The radiological signs were slightly more frequent in women (56.3%) than men (45.9%). Mean age at diagnosis was moderately higher in the group with arthropathy (52 years) than in the group without (44 years). Analysis of clinical, radiological and biological data, including parathormone values, did not reveal other parameters differentiating the two groups. A family study does not support the hypothesis of double heredity for hemochromatosis and arthropathy. In 20% of the patients the arthropathy was the inaugural feature of the hemochromatosis. The interval between first symptoms and diagnosis for these patients (5.3 years on average) is unfortunately long. Determination of transferrin saturation allows early diagnosis.

Adult↗
PubMed2006

Hereditary hemochromatosis: a rare disease in Iran.

Hereditary hemochromatosis is a common cause of chronic liver disease in western countries. No report of this disease has appeared from Iran and the few studies which have focused on chronic liver disease have failed to identify a single case of hemochromatosis. In this report, we present the first case of hereditary hemochromatosis during our 25 years of gastroenterology practice in Iran.

Adult↗
PubMed1991

Idiopathic hemochromatosis in a young man presenting with palpitations.

A 32-year-old male presented with palpitations and an elevated serum iron. Further evaluation revealed elevated serum ferritin, and a liver biopsy confirmed the diagnosis of hemochromatosis. Cardiovascular workup was normal except for sinus bradycardia alternating with sinus tachycardia in the 24-hour Holter study. Treatment with weekly phlebotomies was started and the family is being studied for early diagnosis of any other case of hemochromatosis. The manifestations, diagnostic workup, and the importance of early diagnosis of hemochromatosis is stressed.

Adult↗
PubMed1990

Diagnosis and management of precirrhotic hemochromatosis.

Primary hemochromatosis is a common genetic disorder that results in inappropriate iron absorption and storage, with progressive damage to target organs. Hepatic cirrhosis and hepatocellular carcinoma are sequelae of hemochromatosis which are potentially preventable. The diagnosis may be suspected prior to target organ damage by appropriate screening tests, and is confirmed by liver biopsy. Three cases of hemochromatosis in the precirrhotic stage of the disease are presented. The pathophysiology, clinical and laboratory features and management are discussed. The high gene frequency in the general population warrants routine screening tests in asymptomatic healthy young adults. Phlebotomy is the indicated treatment for all stages of the disease.

Adult↗
PubMed1990

Hepatic iron and iron absorption in hemochromatosis.

The relationship between iron absorption and hepatic iron was studied in 21 patients with hemochromatosis. Iron absorption was studied using 59Fe and total body counting and hepatic iron was measured by atomic absorption spectrophotometry. Iron absorption was inversely related to hepatic iron concentration (r = -0.51, p = 0.009) in this patient population. This observation suggests that iron absorption is regulated by body iron stores even in hemochromatosis, and does not support the hypothesis that the primary metabolic defect in hemochromatosis is a deregulation of iron absorption in relation to iron stores.

Absorption↗
PubMedDate not supplied

[Physiopathology of iron metabolism and hemochromatosis: interrelationships, assessment and pathogenesis of iron overload, screening].

Fundamental aspects of iron metabolism relate to the dynamic processes of metal plasma transport as well as cell storage and efflux. Transferrin not only carries iron in the plasma but also delivers it to the various cells by binding to a diffuse specific cell receptor; it also acts by chelating cell iron. Ferritin co-operates by storing iron in the cell. By a still unknown regulatory mechanism, iron, from the ferritin pool, is redistributed in the cell to a cytosolic, easily chelatable, "transit" pool or to a degradative lysosomal hemosiderin pool from which it is slowly released outside the cell. Iron overload, such as that typical of hyperhemolysis or hemochromatosis, profoundly impairs its metabolism by saturating and/or altering transferrin and ferritin, by freeing iron from any regulated transport, thus allowing parenchymal deposition and damage. An important aspect still awaiting clarification relates to the different storage of excess iron in the parenchymal cells, as in hemochromatosis, or in the reticuloendothelial system such as in hemosiderosis. Studies using cellular models attempt to evaluate such differences in terms of altered properties of the iron proteins or their cell receptors, and of the different cell responsivity to non-transferrin iron. In the expectation of better knowledge, attention should be concentrated, from a clinical standpoint, on precise assessment of iron deposits in the tissues with the aim of preventing its excessive accumulation and parenchymal damage. In hemochromatosis, the risk of iron overload is evaluated by HLA typing.

HLA Antigens↗