1/10. 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 = 1keywords = physical (Clic here for more details about this article) |
2/10. osteoporosis in HFE2 juvenile hemochromatosis. A case report and review of the literature.Juvenile hemochromatosis (JH) is a severe form of hemochromatosis, which involves rapid iron overload and leads to organ damage, typically before the age of 30. We report a single case of a 25-year-old man suffering from juvenile hemochromatosis, with aggressive clinical manifestations, typically characterized by transaminasemia and progressive erectile dysfunction, due to hypogonadotropic hypogonadism. The clinical case appears interesting, as the patient also had secondary osteoporosis accompanied by increased bone resorption, which prevalently affected trabecular bone. Approximately 6 months after normalization of serum ferritin levels was achieved by frequent phlebotomies, he became eugonadal and bone mineral density of the lumbar spine increased. Our observations suggest that osteoporosis might occur in the state of JH even at a young age, mainly due to the deprivation of sex steroids and the direct tissue toxicity of iron.- - - - - - - - - - ranking = 4.1432722943875keywords = suffering (Clic here for more details about this article) |
3/10. 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 = physical (Clic here for more details about this article) |
4/10. Manifestation of rheumatoid arthritis in a patient with hereditary haemochromatosis.Articular symptoms are frequent manifestations of hereditary haemochromatosis. The clinical signs of the arthropathy of haemochromatosis are not specific and difficult to identify in case of co-incidence of haemochromatosis with Heberden's and Bouchard's osteoarthritis or rheumatoid arthritis (RA). Here the manifestation of RA in a patient is reported who was successfully treated for haemochromatosis. Six months after terminating phlebotomy, the patient presented again suffering from impressive swelling of all MCP joints, showing strong synovitis in ultrasound, and from morning stiffness longer than 1 h. ESR, CRP, IgM rheumatoid factor, and anti-cyclic citrullinated peptide antibodies were markedly elevated. Based on these findings the diagnosis of RA was made. Therefore, the high prevalence of RA and haemochromatosis in the general population underlines the usefulness of a screening for HFE gene mutations in RA patients with an atypical course of the disease as well as in patients with undifferentiated arthritis.- - - - - - - - - - ranking = 4.1432722943875keywords = suffering (Clic here for more details about this article) |
5/10. Coincidental hemochromatosis and viral hepatitis.A 35-year-old woman presented with liver failure, hepatic iron overload, and secondary amenorrhea due to hypogonadotropic hypogonadism. She had chronic inflammatory hepatitis which was considered to be due to post-transfusional viral hepatitis. Her hepatic iron overload was considered to be due to hemochromatosis. Her premature menopause was thought to be due to the severity of her liver disease, but her iron overload also could have contributed to gonadotrophin deficiency. She underwent liver transplantation and 5 months later, she experienced return of menstrual function. The distinction between hepatitis as a cause of iron loading, hemochromatosis as a cause of hepatic inflammation, the small influence of alcohol on increased iron stores, and other features of her history, physical examination, and laboratory evaluation are discussed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/10. Histological changes in cardiac hemochromatosis improved by an iron-chelating agent. A biopsy case.Cardiac dysfunction and ECG abnormalities were demonstrated in a 51-year-old woman suffering from secondary hemochromatosis in sideroblastic anemia. hemosiderin deposition in vacuolized and disarrayed myocytes was disclosed by microscopic examination of the first biopsy specimen of endomyocardial tissue. Three months after administration of deferoxamine mesylate, an iron-chelating agent, the clinical findings were improved. The second endomyocardial biopsy revealed marked depletion of hemosiderin deposition in the myocytes, and improvement of myocyte vacuolization and disarray. Ultrastructurally, the highly electron-dense granules in the myocytes were also decreased in number and density. X-ray microanalysis revealed a prominent peak of Fe in the granules. In a liver specimen obtained by needle biopsy 5 months after the second endomyocardial biopsy, marked hemosiderin deposition still remained.- - - - - - - - - - ranking = 4.1432722943875keywords = suffering (Clic here for more details about this article) |
7/10. Haemochromatosis presenting with a double Yersinia infection.A patient suffering from diabetes mellitus presented with yersinia pseudotuberculosis septicaemia and serological evidence of concomitant infection with yersinia enterocolitica. He was later shown to have idiopathic haemochromatosis.- - - - - - - - - - ranking = 4.1432722943875keywords = suffering (Clic here for more details about this article) |
8/10. Red cell membrane abnormalities in two cases with a special type of a hereditary megaloblastoid hemolytic anemia.case reports are presented of two related patients suffering from a hereditary megaloblastoid hemolytic anemia which at the moment cannot be categorized into one of the well-known entities. The main characteristics of the disease consisted of constant jaundice, macrocytic normochromic anemia, marked hemolysis without a substantial decrease in osmotic resistance, increased iron turnover and hepatic hemosiderosis at a relatively young age. One patient had to undergo splenectomy due to hemolytic crises, the other one cholecystectomy due to gallstones. In contrast to their uncharacteristic morphology in smear, red cells displayed highly variable forms ("lumpy", "Y", "U", drumstick forms) when examined in transmission and scanning electron microscopes. These changes corresponded well with reduced filtrability and aggregability of erythrocytes. The apparent relative blood viscosity was unchanged. The protein pattern of ghosts in SDS gel-electrophoresis revealed neither defects nor additional bands. Changes in the lipid composition of the membrane were indirectly deduced from electron spin-resonance studies, which showed an additional signal at g = 2.192. Similarly, the lipid related membrane mobility agent A2C failed to exert the usual stabilizing effect against osmotic stress. The negative surface potential, estimated by free flow electrophoresis, was only altered in the splenectomized patient. It is concluded that the primary abnormal physical properties of the enlarged red cell contribute at least in part to the marked hemolysis. The similar findings in the two related patients and the fact that the disorder was obviously congenital suggest a special subtype of a megaloblastoid hemolytic anemia.- - - - - - - - - - ranking = 5.1432722943875keywords = suffering, physical (Clic here for more details about this article) |
9/10. Hypophyseal gonadotropin insufficiency in a young woman with idiopathic hemochromatosis.A 24-year-old women suffering from primary sterility was diagnosed in 1971 as having idiopathic hemochromatosis (IH). The diagnosis was made on the basis of high serum iron and high transferrin saturation, ferrokinetic studies, including iron absorption, liver biopsy showing heavy deposits of iron in the parenchymatous cells, and a family history. Except for slight elevations in the serum transaminases, there were no clinical or laboratory findings of liver pancreatic, myocardial, or dermal involvement by hemochromatosis. Endocrine evaluation revealed gonadotropin insufficiency as the cause of sterility. The patient was treated with periodic phlebotomies for seven years, and the mount of iron withdrawn during that time was calculated to be approximately 27 g. A repeat liver biopsy showed complete disappearance of the iron excess of the fibrotic changes that had been present in 1971. Repeated relevant clinical and laboratory studies did not reveal any pathological findings consistent with hemochromatosis. A complete endocrine evaluation, including stimulatory tests (luteinizing hormone releasing hormone, thyrotropin-releasing hormone, insulin, and metyrapone), disclosed only findings consistent with hypophyseal gonadotropin insufficiency, and these were attributed to iron deposition. It can be assumed that the prolonged treatment with phlebotomies prevented the development of liver, pancreatic, myocardial, or other clinical endocrine disease, but had no effect on the already damaged pituitary. The patient's clinical course followed the pattern recently described in other young patients with IH.- - - - - - - - - - ranking = 4.1432722943875keywords = suffering (Clic here for more details about this article) |
10/10. Arthroscopic treatment of metacarpophalangeal arthropathy in haemochromatosis.A 37-year-old sports teacher suffering from idiopathic haemochromatosis with arthropathy of the MP joints has been treated and followed-up by us for 4 years. Three out of four affected MP joints were treated with arthroscopic operations; one of these had been treated elsewhere previously by arthrotomy. This article presents a brief review of the condition and its treatment by arthroscopic surgery with detailed technique. We believe that MP joint arthroscopy in certain cases is an alternative to open surgery and gives excellent results. No specific instruments are needed apart from a standard small joint arthroscopy set.- - - - - - - - - - ranking = 4.1432722943875keywords = suffering (Clic here for more details about this article) |
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