1/13. Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report.An autopsy case of congenital infantile myofibromatosis and neonatal hemochromatosis is reported. A thirty-six-hour-old baby girl had multiple subcutaneous nodules in addition to multiple visceral involvement of heart, lungs, pharynx, larynx, stomach, small bowel, large bowel, pancreas, kidneys, spleen, thyroid, adrenal glands, lymph nodes, peripheral nerves, meninges and soft tissues. In these tumoral nodules, three types of histological patterns were observed: 1-hemangiopericytoma-like, 2-mixed, and 3-pure spindle cell. Tumor cells were immunohistochemically positive for actin, and negative for desmin, muscle-specific antigen, and estrogen, related protein. The histological and immunohistochemical findings of the case suggested that a close relationship may exist between infantile myofibromatosis and infantile hemangiopericytoma. In addition to infantile myofibromatosis, neonatal hemochromatosis characterized by iron deposition in parenchymatous organs such as liver, pancreas, lungs, thyroid, and adrenal glands was another important characteristic of the case.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/13. Hereditary hemochromatosis masquerading as rheumatoid arthritis.Early erroneous diagnosis of rheumatic disease is common in subjects with arthropathy due to hereditary hemochromatosis. A 71-year-old male with chronic obstructive pulmonary disease and monoclonal gammopathy underwent hip replacement and was referred to our Department because of altered liver function tests. Test results were negative for hepatitis b surface antigen and hepatitis c virus, and positive for rheumatoid factor. A diagnosis of rheumatoid arthritis had been made on the basis of compatible joint involvement and laboratory data and steroid treatment prescribed. Since his serum ferritin was 3249 ng/mL, genetic testing for hereditary hemochromatosis was carried out and revealed homozygosity for Cys282Tyr mutation in the HFE gene. Liver biopsy disclosed cirrhosis compatible with hemochromatosis. Following a review of the patients' radiographs, the diagnosis of hemochromatosis arthropathy was made. Phlebotomies and family screening for hereditary hemochromatosis were done. The most logical explanation for the positive rheumatoid factor result in this subject are his age and the presence of two chronic diseases involving long-standing antigenic stimulation and monoclonal gammopathy of uncertain significance. It is important to distinguish rheumatoid arthritis from hemochromatosis arthropathy for several reasons: patients with hereditary hemochromatosis do not require corticosteroid treatment; in case of erroneous diagnosis of rheumatoid arthritis, phlebotomy is not started early, and familial genetic counseling is not considered. In male subjects with positive rheumatoid factor and joint and liver disease, hereditary hemochromatosis should be considered. More liberal use of genetic testing is justified in such cases.- - - - - - - - - - ranking = 2keywords = antigen (Clic here for more details about this article) |
3/13. Early-onset hemochromatic arthropathy in a patient with idiopathic hypermobility syndrome.hemochromatosis is a genetic disease related to human leukocyte antigen (HLA) A3, B7, and B14 histocompatability antigens resulting in increased iron absorption from the gastrointestinal tract and deposition of iron in tissues. Arthropathy is not uncommon in the late stage of disease. Characteristic radiologic findings are commonly observed in the wrists and metacarpophalangeal joints as well as the hips, knees, and ankle joints. Presented here is a 34-year-old male with hemochromatosis and bilateral shoulder, knee, and ankle pain. Radiologic examination revealed osteoarthritic findings in both ankle joints and chondrocalcinosis in the knee joints. All the major criteria of hypermobility syndrome were observed on physical examination. The early-onset arthropathy seen with this hemochromatosis is thought to result from hypermobility syndrome.- - - - - - - - - - ranking = 2keywords = antigen (Clic here for more details about this article) |
4/13. A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote.A 62-year-old white man with a hemochromatosis phenotype was found to be heterozygous for the C282Y mutation of the HFE gene. The H63D and S65C mutations of HFE were not present. As most C282Y heterozygotes do not develop a hemochromatosis phenotype, the coding region of the patient's HFE gene was sequenced and a previously undescribed frameshift mutation was identified in exon 2 (c.del277; G93fs) that resulted in a premature stop-codon. There were no coding region mutations of the ferroportin gene (FPN1). We performed human leukocyte antigen (HLA) typing of the patient and his brother who was heterozygous for the C282Y HFE mutation unassociated with a hemochromatosis phenotype. They shared only C282Y and the HLA haplotype A*03, B*14; hence, the c.del277 mutation was linked to the HLA haplotype A*02, B*44 and therefore not on the same chromosome as the C282Y mutation. Thus, the present patient's only intact HFE protein is C282Y, and this may explain his hemochromatosis phenotype.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
5/13. A case of congenital dyserythropoietic anemia type II associated with hemochromatosis.A 54-year-old woman with anemia, diabetes mellitus and liver dysfunction was admitted to our hospital. Numerous binucleated erythroblasts in the bone marrow, a positive serum acidified test, and the presence of anti I and anti i antigens on the surface of her erythrocytes indicated that she had congenital dyserythropoietic anemia (CDA) Type II. hemochromatosis was confirmed by a liver biopsy. This case is a sibling of a patient with CDA Type II reported by Omine et al in 1981 (Acta Haematol Jpn 44:1). They report that no physical or hematological abnormalities were found when she was examined at the age of 29 years. Twenty-five years later, she developed CDA Type II and hemochromatosis. This case indicates that long-term observation of the family members of a patient with CDA Type II is necessary.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
6/13. Late onset of Wilson's disease in a family with genetic haemochromatosis.We report the coexistence of Wilson's disease and genetic haemochromatosis in one family. The diagnosis of genetic haemochromatosis was established in a 52-year-old man. Among his siblings, one 57-year-old sister and one 55-year-old brother had decreased copper and ceruloplasmin levels in serum and increased urinary copper excretion. The sister shared the same human leucocyte antigen haplotypes and was homozygous for the HFE mutation C282Y, like the propositus. However, she had normal liver iron content and increased liver copper content. Her dietary copper intake was probably excessive. The association of Wilson's disease and genetic haemochromatosis is rare and has only been described twice. The onset of Wilson's disease after 50 years of age is rare; Wilson's disease should be considered in any patient with unexplained chronic liver disease; an excess in liver copper content might be induced by excessive dietary input in a susceptible individual.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
7/13. Hepatocellular carcinoma, transfusion-induced hemochromatosis and congenital hypoplastic anemia (Blackfan-diamond syndrome).A 25 year old patient with congenital hypoplastic anemia (Black-fan-diamond syndrome) is described. This patient was hepatitis-antigen negative, had not received androgens and had a hepatoma develop in a transfusional hemochromatotic liver. Since androgens have been associated with hepatocellular carcinoma, the use of androgenic steroids for other than life-threatening symptoms in this disease should be avoided.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
8/13. Sickle cell disease and hemochromatosis.A 50 year-old patient with sickle cell anemia was seen who had received only two units of blood during his lifetime. He had marked iron overloading, cirrhosis of the liver, arthralgia, and mild glucose intolerance. We believe the iron overloading was associated with hereditary hemochromatosis rather than sickle cell anemia because he had HLA-A3 and b7 antigens, and hepatic iron deposits were primarily in parenchymal cells rather than Kupfer cells. The coexistence of either homozygous or heterozygous hemochromatosis should be suspected in sickle cell patients with organ damage from iron overloading.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
9/13. iron overload complicating sideroblastic anemia--is the gene for hemochromatosis responsible?Idiopathic hemochromatosis is a hereditary disease that is associated with human leucocytic antigens A3, B7, and B14. A genetic association between human leucocytic antigen-linked hemochromatosis and idiopathic refractory sideroblastic anemia has been suggested that may predispose some patients with idiopathic refractory sideroblastic anemia to develop gross iron overload. Study of the family of a patient with idiopathic refractory sideroblastic anemia and hemochromatosis revealed that 2 of 5 first-degree relatives had significant elevations of serum ferritin, and a shared human leucocytic antigen haplotype, supporting the concept that patients with idiopathic refractory sideroblastic anemia and significant iron overload have at least one allele for hemochromatosis.- - - - - - - - - - ranking = 3keywords = antigen (Clic here for more details about this article) |
10/13. Clinical, biochemical and histological features of primary haemochromatosis: a report of 67 cases.In 67 patients (mean age 51 years, range 26-79), at diagnosis of primary haemochromatosis (PH), grade III or IV liver iron overload was present in all cases, cirrhosis in 85%, transferrin saturation greater than 80% in 75%, serum ferritin greater than 1000 micrograms/l in 84%, and overt diabetes in 48%. Alcohol intake was greater than 150 g/day in 11 patients; six were chronic hepatitis b surface antigen (HBsAg) carriers. HLA-A3 and b7 antigens were present in 64% and 23% versus respectively 22% (p less than 0.01) and 9% (p less than 0.025) in controls. iron overload was found in the stomach, duodenum, skin and bone marrow in 57, 43, 45 and 59% of the patients studied. Sixty-three patients were followed for 1-260 months (median 24); 43 received regular iron-depleting treatment and 20 did not because of liver failure, cancer or refusal. Cumulative survival was 79%, 67% and 61% at 1, 4 and 10 years, respectively. Ten patients died from hepatocellular carcinoma and two from extrahepatic cancer. The early high mortality rate was due to some cases of advanced disease or cancer. Cumulative survival in the regularly treated group was 95% at 1 year and 91% at 4 and 10 years, which was higher than in the untreated group.- - - - - - - - - - ranking = 2keywords = antigen (Clic here for more details about this article) |
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