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PubMed2000

[Neonatal hemochromatosis: significance of early identification].

Neonatal hemochromatosis (NH) is a rare clinical-pathologic entity defined by severe neonatal liver failure (NLF) of intrauterine onset associated with extrahepatic siderosis that spares reticuloendothelial elements. Whether this entity is the result of a distinct disease process or is the pathologic end-result of many other forms of NLF remains to be assessed. Death from multisystem organ failure usually occurs in the first few days or weeks of life. We report two sisters with neonatal hemochromatosis with different outcome. The first died at 21 days of life for multiorgan failure and sepsis. The second was diagnosed and treated very early by aggressive support with fresh-frozen plasma, packed red cells, platelets, coagulation factors, diuretics, and pressors, and she is well at 2-year-follow-up. The few therapeutic options are discussed. In general, few patients survived NH. Among patients treated only by medical approachs and that did not undergo orthotopic liver transplantation (OLTX), favorable outcome is only very rarely reported. For management of NH infants early recognition of the disease is critical. Our experience seems to suggest that as early is the start of treatment as high is the possibility of survival. At this moment very early aggressive supportive treatment should appear to be the most useful approach to stabilize the patient hoping in spontaneous liver recovery, or, in turn, to permit OLTX before septic complications bring to clinical decline.

Female↗

PubMed2002

Levels of uroporphyrinogen decarboxylase (URO-D) in erythrocytes of Italian porphyria cutanea tarda patients.

Porphyria cutanea tarda (PCT) is a human metabolic disorder due to the acquired or genetic impairment of uroporphyrinogen decarboxylase (URO-D) activity, the fifth enzyme of the heme biosynthetic pathway. A classification of inherited and non-inherited forms is based on the enzyme activity levels in red blood cells (RBC). Clinical manifestations of PCT are often precipitated by triggering factors such as alcohol, drug abuse, estrogens, virus infections, hepatotoxic chemicals and hepatic siderosis. We measured URO-D activity in RBC from a large sample of Italian PCT patients in order to define the enzyme activity distribution and to attempt a correlation among activity, risk factors and clinical outcome. Three classes of patients with low, normal and over-normal URO-D activity were defined according to control values. Low URO-D levels were present in 25.8% of patients, suggesting the familial form of PCT (type II). In this group, the outcome of PCT seems to be less influenced by risk factors. Patients with over-normal URO-D activity in RBC deserve further investigation.

Adult↗

PubMed2002

Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).

Porphyria cutanea tarda (PCT), a disorder characterized by a photosensitive dermatosis and hepatic siderosis, is caused by a decreased activity of the hepatic enzyme uroporphyrinogen decarboxylase (UROD). Two forms of PCT have been described: a familial one (fPCT) with an inherited decrease of UROD activity in all tissues and a sporadic one (sPCT) with a decreased UROD activity restricted to the liver. Iron overload and acquired factors including hepatic viral infections, alcohol, drugs contribute to the expression of PCT. In 65 French sPCT patients and 108 controls we have evaluated the respective role of iron and HCV status, the hemochromatosis (HFE) gene mutations frequencies (H63D. S65C, C282Y), and in a case control study we searched for an association between sPCT and the human transferrin receptor-1 (TFRC1) gene whose product is thought to be in functional association with the HFE protein: three single nucleotide polymorphisms (SNPs) previously characterized and 2 novel ones were studied. The iron-related parameters and transaminases were higher in sPCT patients than those of non-porphyric controls. Of the sPCT patients studied, 28% were HCV positive. In the HFE gene, 17% of sPCT patients carried C282Y mutation compared to 4% in controls, no significant differences were found with H63D and S65C variants. Compound heterozygous genotypes, C282Y/H63D or C282Y/S65C, were not significantly different in sPCT and control groups. Independently from HFE gene mutations, an association was found between the IVS4+198 T allele in the TFRC1 gene and sPCT patients. Analysis of HFE genotypes indicated that C282Y (but not H63D nor S65C) is a susceptibility factor for the development of sPCT in West European continental patients. However, analysis of TFRC1 genotypes suggest that sPCT should be considered as a multifactorial disorder in which other intracellular iron metabolism genes could be involved.

Adult↗

PubMed1975

[Clinical problems of different forms of heterochromie(author's transl)].

The causes of hypo- and hyperchromic heterochromia were analysed in 94 patients. The hypochromic forms were the commonest, especially the Fuchs-Herrenschwandt heterochromia, and heterochromia simplex. Also after degenerative diseases and accidents appears almost exclusively hypochromic heterochromia. Causes of hyperchromic heterochromia (siderosis, melanosis, wart-iris) were in the minority. Finally a heterogenous group of pseudoheterochromiae were more closely examined. This group seemed to be mainly hypochromic but in 2 rare cases the pseudoheterochromia was cuased by a brown dystrophy of the repeatedly inflamed cornea, probably associated with repeated fluorescien-staining of large corneal erosions.

Adolescent↗

PubMed1975

Primary evolution of chronic hepatitis estimated 3 to 14 years after the liver biopuncture.

From over 800 patients with chronic hepatic diseases admitted to the Institute of Internal Medicine between 1960-1969 and in whom diagnosis was assessed by hepatic biopuncture, 180 were reexamined 3-14 years later to estimate the clinical evolution and the prognostic value of the bioptic findings. The evolution was favourable in most of the cases of persistent chronic hepatitis (70%) and of moderate aggressive chronic hepatitis (59%). Severe aggressive chronic hepatitis evaluated favourably in 34% of the cases and was aggravated in 42% of the cases (26% exits). In the patients with cirrhosis the percentage of deaths reached 65 but 30% were still in a stationary form; a single exceptional case was improved 7 years after the hepatic biopuncture. The prognostic value of hepatic biopuncture is much increased if, in addition to the common histological features, other histochemical and morphological criteria such as: structural stability of collagen fibers, importance of cellular infiltrates and presence of plasma cells, nuclear changes, degree of steatosis, amount of glycogen storage, siderosis and cholestasis are also taken into consideration.

Biopsy, Needle↗

PubMed1976

Sideroblastic anaemia associated with iron overload treated by repeated phlebotomy.

Iron overload with prominent skin pigmentation and hepatic parenchymal siderosis is reported in a patient with refractory sideroblastic anaemia. Failure to reverse the sideroblastic changes or the anaemia with conventional therapy prompted us to use a graded phlebotomy programme. The rising haemoglobin level in spite of repeated venesections is support for this approach in selected patients with this diagnosis.

Aged↗

PubMed2003

Growth and puberty in thalassemia major.

Present transfusional regimen protocols increase the life expectancy of patients with beta-thalassemia major, but cause a progressive iron overload that can be prevented or limited only by appropriate iron chelation. Siderosis is responsible for the clinical complications of the disease. Short stature and hypogonadism are extremely frequent in patients with thalassemia. Many factors are responsible for short stature in patients with thalassemia, the most important of which are dysfunction of the GH-IGF-I axis and desferoxamine (DFX)-induced bone dysplasia. Hypogonadism is the most frequent endocrine complication, mostly due to gonadotrophins deficiency secondary to iron overload. Sex steroid treatment for induction of puberty and/or maintenance of sexual characteristics is necessary. Both short stature and hypogonadism are present in a significant percentage of bone marrow transplanted patients with thalassemia. Factors responsible for short stature are previous iron overload, liver impairment, DFX treatment, and toxicity of chemotherapeutic agents. In some patients absence of pubertal development is due to gonadotropin insufficiency, probably secondary to previous iron overload; other patients exhibit hypergonadotrophic hypogonadism due to the toxic effect of chemotherapeutic agents on the gonads. Both groups need hormonal replacement therapy. These data support the need for vigilant follow-up of patients with thalassemia before and after transplantation, in order to treat endocrine dysfunctions at the appropriate age.

Body Height↗

PubMed1992

[Histochemical detection of hepatic iron. A comparative study of four stains].

Due to its specificity and easiness, Perls' stain is widely used in the histochemical assessment of liver iron content. However, it can underestimate slight iron overload, which can hamper screening for genetic hemochromatosis, especially in young people. The aim for the present study was to compare Perls' stain to three other specific iron stains (Tirmann-Schmeltzer (TRM); Hukill and Putt (HPT); Perls with Diaminobenzidine (DAB)), biochemical liver iron concentration (LIC) being used as the reference. 1) There is a significant difference between number of stained cells with TRM or DAB, compare with Perls' stain (p < 0.05). 2) Correlation (r) between histological assessment (T) and LIC was 0.39 for Perls' stain, 0.64 for TRM 0.53 for HPT and 0.64 for DAB. These data suggest that Perls' stain is not the most sensitive method for the assessment of slight iron overload. Tirmann-Schmeltzer's stain and Perls plus dAB should be preferred, especially in the screening of early liver siderosis.

Histocytochemistry↗

PubMed1992

[An unusual chronic microvasculitis: Goodpasture's syndrome with late myocardial involvement].

We describe a disease, started in a female young adult patient as an apparent pulmonary siderosis, followed nine years later by an extracapillary proliferative nephritis, which developed to uremia in a few months. Later an intra-myocardial vasculitis, responsible of heart failure, appeared. Immune-histochemistry and serological tests exclude a disease mediated by anti-GMB antibodies, and pathologic features suggest a vasculitis mainly affecting lungs and kidneys.

Adult↗

PubMedDate not supplied

alpha-Interferon treatment of chronic hepatitis C in young patients with homozygous beta-thalassemia.

BACKGROUND: Chronic infection with the hepatitis C virus (HCV) and iron overload are the main causes of chronic liver disease in subjects with homozygous beta-thalassemia (HBT). Iron overload can be counteracted by intensive chelation. alpha-interferon reduces viremia and necroinflammation in patients with chronic HCV hepatitis. METHODS: To assess the effectiveness and safety of alpha 2b-Interferon (IFN), we enrolled in an open pilot trial of treatment 12 patients with HBT and biopsy-proven anti-HCV positive chronic hepatitis. IFN was given at a dose of 5 MU/m2 thrice weekly for 8 weeks, then 3 MU/m2 thrice weekly for 18 weeks. Patients were followed up to 24 months after stopping treatment when a second liver biopsy was performed in subjects with sustained response (normal ALT during follow-up). RESULTS: Two patients discontinued IFN at 7 weeks because of haemolytic anemia and one after 8 weeks due to persistent fever. Among 9 subjects completing the protocol, 5 normalized ALT while on treatment and a further 2 within two months after stopping IFN. A sustained response was obtained altogether in 5 patients, since ALT relapsed in 2 responders. None of the 3 subjects who discontinued IFN and of the 2 patients who did not respond to treatment normalized ALT over a 24 months follow-up. Post-treatment liver histology in long-term responders showed a reduction of portal, periportal and lobular necroinflammation, while siderosis was essentially unchanged. CONCLUSIONS: Although the pattern of response to IFN in HCV-infected subjects with HBT might differ from that of non-thalassemics, due to peculiar side effects and delayed response, the drug appears to be effective and deserves further investigation.

Adolescent↗

PubMed1992

[MR tomography of the lower limbs of children with diseases of the hematopoietic system].

In 41 children with disorders of the hematopoetic system 119 MR examinations of both tibiae and knees were performed (T1 and T2 spin-echo sequences and a T2 gradient-echo sequence). Before therapy bone marrow changes in leukemia were diffuse, and patchy during and after therapy. Signals in T2-weighted images were different for infiltrations, fibrosis, necrosis and siderosis. In 3 children suspected of suffering from osteomyelitis, Ewing-sarcoma or coxitis, MR examination was the first to show the correct diagnosis. Therefore in children indications for MR tomography should be handled more generously to win time for therapy. Using only a T1 spin-echo sequence and a T2 gradient-echo sequence screening of more than one region is capable of controlling bone marrow diseases.

Acute Disease↗

PubMed2003

[Pneumoconiosis and mycobacterial infection].

This symposium was organized to provide recent informations concerning pneumoconiosis and mycobacterial diseases in Japan. Pneumoconiotic workers have been decreasing in number and in severity because of change in industrial structure and improvement of occupational health measures. But radiological figures of dust exposed worker are going to be complex and be difficult for diagnosis due to aging, smoking and of complicated respiratory and non-respiratory diseases. Major complications such as pulmonary tuberculosis and tuberculous pleurisy are decreasing but non-tuberculous mycobacterial infections have become common among dust exposed workers. Dr. Katsuhiro Suzuki (National Kinki-Chuo Hospital) reported pulmonary tuberculosis complicated with pneumoconiosis. A few reports regarding tuberculosis with pneumoconiosis have been published in recent years, particularly in Japan. Thus, clinical characteristics of the cases in our hospital between 1998 and 2003 were summarized here. There were 22 such patients, who consisted of 21 men and one woman and were 49 to 91 years old. There were 19 cases with silicosis, two cases with asbestosis, and one case with siderosis. Bilateral and cavitary lesions in a chest XP were revealed in 82% and 29% of the cases, respectively. Standard chemotherapeutic regimens consisted of three or four drugs with a prolonged period were found to be as effective as that for healthy subjects, judging from the sputum conversion rate after 8 week treatment. Dr. Toshiyuki Yamauchi (Keihai Rosai Hospital) reported, based on autopsy findings, trends in combined-type tuberculosis accompanying pneumoconiosis. The study period was divided into first (1963-1980) and second (1981-2000) stages based on year of patients death. To assess the therapeutic efficacy of antituberculosis agents, patients with combined-type tuberculosis were pathologically divided into those with active tuberculosis and those with inactive tuberculosis. The incidence of active tuberculosis during the second stage was significantly lower than that during the first stage. In both first and second stages, the average age of death for patients with inactive tuberculosis was older than that for those with active tuberculosis. It was shown that active combined-type tuberculosis was resistant to antituberculosis therapy and the prognosis of those patients tends to be poor. But for all patients with active and inactive combined-type tuberculosis, the average age of death was comparable to that of patients without tuberculosis in each stage. The results indicated that the antituberculosis agents were effective to combined-type tuberculosis. Dr. Kiyonobu Kimura (Iwamizawa Rosai Hospital) carried out retrospective studies on some clinico-epidemiologic problems in the cases accumulated in his hospital during the past 49 years. Since his cases consist of various different pathological changes, he has adopted the term "pneumoconiosis complicated with pulmonary tuberculosis" instead of silico-tuberculosis. The results were summarized as follows: (1) The rates of active pulmonary tuberculosis out of 1051 total dead cases were 43.8% (28/64) from 1955 to 1964, 28.8% (62/215) from 1965 to 1974, 24.7% (93/376) from 1975 to 1984, and 10.1% (40/396) from 1985 to 1994. (2) The rates of those who died of pulmonary tuberculosis were 17.2% (11/64) from 1955 to 1964, 9.3% (20/215) from 1965 to 1974, 1.9% (7/376) from 1975 to 1984, and 3.3% (13/396) from 1985 to 1994, respectively. (3) The average age of death of pulmonary tuberculosis has become older and is not significantly different from that of pneumoconiosis patients who died of other cause. (4) The rate of sputum negative conversion was only 9.1% (3/33) during the first 10 years (from 1955 to 1964). On the other hand, 95% (21/22) in the recent 9 years (from 1993 to 2002). (5) Out of the 104 autopsy cases in whom pneumoconiosis and tuberculosis were diagnosed pathologically, 64 cases were combined form of tuberculosis, and other 40 cases were complicated form of tuberculosis. Dr. Hiroki Morita (Asahi Rosai Hospital) studied the nontuberculous mycobacteria (NTM) in the patients with pneumoconiosis and the clinical courses of the 4 types of pneumoconiosis complicated with NTM pulmonary disease. NTM were detected in the 73 (29%) of 252 pneumoconiosis. The 14 species (M. gordonae, M. avium, M. terrae, M. fortuitum, M. nonchromogenicum, M. peregrinum, M. intracellulare, M. szulgai, M. abscessus, M. simiae, M. chelonae, M. scrofulaceum, M. xenopi, M. triviale) were identified. In the long-term follow-up study of the pneumoconiosis patients complicated by NTM pulmonary disease, it was very difficult to catch the onset of NTM pulmonary disease because the clinical signs and symptoms were nonspecific and the radiographic findings moved very slowly. Dr. Mitsunori Sakatani (National Kinki-Chuo Hospital) reviewed the laws related safety and health for dust exposed workers, pneumoconiosis and tuberculosis, and he pointed out importance for prevention, diagnosis, treatment and compensation.

Aged↗

PubMedDate not supplied

[Hereditary sideroblastic anemia: a rare diagnosis].

Hereditary sideroblastic anemia is a very rare disease recessive and X-linked that affect heme biosynthesis by deficit or decreased of delta aminolevulinic acid synthase (ALAS) activity. We report a case of a six-month-old boy, admitted in the hospital for anemic syndrome. The hemogram showed anemia (hemoglobin: 4.5 g/dL), frankly hypochronic microcytic and a regenerated (mean corpuscular hemoglobin concentration: 26 g/dL, mean cell volume: 53 fl, reticulocytes: 10 x 10(9)/L) with red cells morphologic disorders in smears (anisopoikylocytosis) without attack of the other lineages; white blood cells: 11 x 10(9)/L (neutrophils: 64% and lymphocytes: 35%); platelets: 350 x 10(9)/L. Examination of bone marrow showed an important erythroid hyperplasia (about 69%) with dyserythropoiesis. Perls stain revealed intense siderosis with 90% of ringed sideroblasts and a large number of siderocytes. Exploration of ALAS2 and ABC7 genes on the DNA of the infant was not found abnormalities. Treatment with pyridoxine corrects moderately the anemia. By the way, we proposed to remind that iron deficiency, inflammatory syndrome and thalassemia are the common microcytic anemia. However, it's mandatory to explore other causes if diagnosis is not solved.

Anemia, Sideroblastic↗

PubMed2004

[Congenital dyserythropoietic anemia--type II (CDA-II) in 3 siblings with long-term follow up and iron overload].

The diagnosis of congenital dyserythropioetic anemia-type II (CDA-II) was established in 1974 in three siblings aged 20, 18 and 5 years, respectively. Liver biopsy performed in two elder siblings on admission revealed liver siderosis. Anemia showing haemolytic component with destruction of erythrocytes in the spleen was corrected after splenectomy. Increased number of erythrocytes showing "the double membrane phenomenon" was found in the peripheral blood after splenectomy. All three siblings developed cholecystolithiasis with choledocholithiasis and obstructive jaundice in two of them. Two patients at the age of 49 and 34 years (the third died in an accident at the age of 40 years) developed 29 years after the diagnosis of CDA-II had been established signs of iron overload with transferin saturation 99%, serum ferritin 1450.4 microg/l and 1131.7 microg/l respectively, and hepatic iron concentration (dry weight) 14,843 microg/g and 15,415 microg/g (norm 70-1400 microg/g) respectively. No mutations of HFE gene (C282Y and H63D) were found. Liver biopsy showed heavy accumulation of hemosiderin in hepatocytes and reticuloendothelial cells. The structure of the liver tissue was not changed, only mild fibrosis in portal area was present in the older patient. Because of iron overload therapy with phlebotomy once monthly (400 ml) has been started in both patients. In peripheral blood films excess of Pappenheimer bodies was found.

Adolescent↗

PubMed2006

Myelodysplastic syndromes: iron overload consequences and current chelating therapies.

Chronic red blood cell transfusion support in patients with myelodysplastic syndromes (MDS) is often necessary but may cause hemosiderosis and its consequences. The pathophysiologic effects of iron overload relate to increased non-transferrin bound iron generating toxic oxygen free radicals. Studies in patients with MDS and thalassemia major have shown adverse clinical effects of chronic iron overload on cardiac function in patients who underwent polytransfusion. Iron chelation therapy in patients with thalassemia who were effectively chelated has prevented or partially reversed some of these consequences. A small group of patients with MDS who had undergone effective subcutaneous desferrioxamine (DFO) chelation for 1 to 4 years showed substantial hematologic improvements, including transfusion independence. However, because chronic lengthy subcutaneous infusions of DFO in elderly patients have logistic difficulties, this chelation therapy is generally instituted late in the clinical course. Two oral iron chelators, deferiprone (L1) and deferasirox (ICL670), provide potentially useful treatment for iron overload. This article reviews data indicating that both agents are relatively well tolerated, were at least as effective as DFO for decreasing iron burdens in comparative thalassemia trials, and (for deferiprone) were associated with improved cardiac outcomes. These outcomes could potentially alter the tissue siderosis-associated morbidity of patients with MDS, particularly those with pre-existing cardiac disease.

Administration, Oral↗

PubMed2005

[Intraorbital foreign body--three years follow-up].

A case of patient with metallic intraorbital foreign body, was described. The foreign body went trough the eye and finally was situated close to the optic nerve. After three years, no signs of siderosis were found (ERG). The patient is still under control.

Adult↗

PubMed1991

[Perinatal hemochromatosis].

Neonatal hemochromatosis is responsible for death in utero or severe hepatic insufficiency in the newborn, generally with rapid progression to death. Recurrence in sibships is frequent. Necropsy findings are characterized by siderosis in the liver, pancreas, heart, thyroid, but not in the reticuloendothelial system. Urinary cytology, serum iron concentration, iron-binding capacity, ferritin, and magnetic resonance imaging allow a diagnosis to be made before death. Liver transplantation probably offers the best chance of survival. The pathophysiology is unknown; there may be a variety of etiologies.

Female↗

PubMed1990

The diagnostic value of bone marrow iron.

The light and electronmicroscopic representation of non-haemiron in the bone-marrow provides the unique opportunity of extensively evaluating the iron metabolism. In the bone-marrow, macrophages represent the physiological place of iron storage. The iron in the cytoplasma is stored in them in the form of free ferritin molecules and lysomally as aggregated ferritin and/or haemosiderin in siderosomes. In an equal iron balance and unimpaired internal iron exchange only erythroblasts (sideroblasts) and erythrocytes (siderocytes) of the bone-marrow besides macrophages possess siderosomes. In addition to this physiological or orthotopic iron storage a heterotopic iron storage can be observed under pathological conditions, particularly with iron overloading of the organism, in the endothelial cells of sinusoids and plasma cells. In detail, the patterns of iron storage in the bone-marrow are described in the different stages of iron deficiency, disturbance of iron utilization in chronically inflammatory processes or tumour diseases, condition after intravenous iron administration, transfusion siderosis, hereditary haemochromatosis and sideroblastic anaemia.

Anemia↗