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PubMedDate not supplied

Pathology teach and tell: neonatal hemochromatosis with massive hepatic necrosis.

Neonatal hemochromatosis (NH) is an uncommon disorder clinicopathologically defined by severe liver disease of intrauterine onset associated with extrahepatic siderosis that spares reticuloendothelial elements. NH phenotypically is a similar disorder to hereditary hemochromatosis. However, its extremely early onset of liver failure makes it notably unique. Massive liver necrosis in the newborn is a rare occurrence, but whenever present hemochromatosis should be considered in the differential diagnosis. Herein, we report a case of neonatal hemochromatosis that had massive hepatic necrosis with sparing only little parenchyma. The outcome was fatal within the first month of life.

Diagnosis, Differential↗

PubMed1999

[Endocrine complications of genetic hemochromatosis].

The authors report the prevalence and severity of endocrine complications in a cohort of 115 patients suffering form genetic hemochromatosis and followed since two decades. Already 40% of them had developed diabetes at the time of diagnosis of hemochromatosis, which was made at the age of 50 +/- 12 years (m +/- SD). Hypogonadism was evidenced in 42% of the patients. In most of them, it was considered as secondary to pituitary lesions as assessed by GnRH tests. No other endocrine complications, in particular thyroid disease, were evidenced during follow up. On the other hand, it was also of interest to note that liver cirrhosis was observed in 52% of the patients at the time of hemochromatosis diagnosis. A relationship between cirrhosis, diabetes and hypogonadism was also assessed in these patients. We conclude to the still high prevalence of endocrine complications in genetic hemochromatosis.

Adult↗

PubMed2000

Technical, genetic, and ethical issues in screening and testing of African-Americans for hemochromatosis.

To define more precisely populations in which hemochromatosis is frequent to rare, problems of racial classification are introduced, with particular reference to Europeans and African-Americans. Because the category "Caucasian" includes a multitude of dissimilar peoples, the categories Europeans and European-Americans have been substituted for Caucasian, which is archaic. The background of discrimination in sickle hemoglobin programs for African-Americans are then analyzed, including, discrimination by employers, life insurance, and selective mandatory testing. Discrimination and selective testing of African-American employees of the Lawrence Livermore Laboratory continues today without prior consent, as it has since the 1970s. Dissimilarities between the genetics of hemochromatosis in Europeans and their descendants, Africans, and African-Americans are briefly analyzed. Finally, it is concluded that because hemochromatosis is unlike sickle hemoglobin in that it is potentially preventable and treatable, prevention and treatment principles should apply as in other diseases. Furthermore, because hemochromatosis is so common in European-Americans, discrimination, if practiced, would not be selective for African-Americans.

Black or African American↗

PubMed1994

Multiple liver abscesses due to Yersinia enterocolitica discloses primary hemochromatosis: three cases reports and review.

We report three cases of multiple liver abscesses due to Yersinia enterocolitica that led to previously unknown diagnoses of primary hemochromatosis. Y. enterocolitica is an iron-dependent bacterium that relies entirely on exogenous iron for growth. A review of the literature with use of MEDLINE (National Library of Medicine, Bethesda, MD) disclosed 35 cases of Y. enterocolitica liver abscesses; 21 (60%) of these cases were associated with hemochromatosis. In 11 of the remaining 14 cases, two common manifestations of hemochromatosis, diabetes mellitus and cirrhosis of the liver, also were present; these findings were significant. Finally, we emphasize that when iron overload cannot be documented at the time of diagnosis of the liver abscess, long-term follow-up for determination of increasing iron stores is mandatory. With this approach, most manifestations of hemochromatosis in asymptomatic patients can be prevented.

Adult↗

PubMed1998

Hemochromatosis of the foot and ankle. Report of three cases and review of the literature.

Genetic hemochromatosis is a disorder of iron metabolism that results in deposition of massive amounts of iron in the tissues. Arthropathy is one of numerous clinical manifestations associated with this disease. Characteristic radiographic features have been reported in the hand and wrist, and the hip; however, there is no mention in the literature of joint manifestations in the foot and ankle. In this report, the authors present three patients with hemochromatosis arthropathy of the foot and ankle. Two patients presented primarily with foot pain and were treated initially with orthoses. One of these patients went on to have to midfoot arthrodesis performed. The third patient presented with ankle joint symptoms, and was treated successfully with an ankle foot orthosis. The arthritis of hemochromatosis has classic radiographic findings. However, the arthritis of hemochromatosis may be difficult to differentiate from several other joint diseases. Characteristic features of this disease in the foot and ankle are discussed.

Adult↗

PubMed1997

Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis.

BACKGROUND: Inborn errors of bile acid synthesis are newly recognized disorders that may cause the phenotypic appearance of neonatal hepatitis or neonatal cholestasis. METHODS: This is a clinicopathologic study of two sets of siblings with cholestatic neonatal liver failure. RESULTS: In 3 of the infants, diagnostic evaluation, including analysis of urinary bile salts, revealed a predominance of 7 alpha-hydroxy-3-oxo-4-cholenoic and 7 alpha, 12 alpha-dihydroxy-3-oxo-4-cholenoic acids, a pattern consistent with delta 4-3-oxosteroid 5 beta-reductase deficiency, which could be primary or secondary. The fourth infant died before such testing could be carried out. In addition, all 4 infants had histologically disseminated hemochromatosis and met diagnostic criteria for neonatal hemochromatosis. In the 3 infants studied, histologic examination of the liver disclosed giant cell hepatitis with extensive loss of hepatic parenchyma and rapid progression to cirrhosis. Early treatment with ursodeoxycholic acid and cholic acid, previously reported as effective therapy, was given to 2 siblings; it failed to reverse or halt the liver damage, and both infants died. One infant, with the original diagnosis of neonatal hemochromatosis, was treated with a variety of antioxidants and chelation therapy, as recently reported. No improvement was demonstrated, and he went on to liver transplantation. CONCLUSIONS: The presentation of delta 4-3-oxosteroid 5 beta-reductase deficiency as neonatal hemochromatosis may represent a distinct subset of this disorder with an accelerated course, no response to therapy and poor prognosis.

Adult↗

PubMed1998

Neonatal hemochromatosis: outcomes of pharmacologic and surgical therapies.

BACKGROUND: Neonatal hemochromatosis (NH), also known as perinatal hemochromatosis or neonatal iron storage disease, is a disorder in fetuses and newborn infants. A retrospective study was conducted to report management of patients with NH. METHODS: Retrospective analysis was conducted by chart review and by review of histologic material from patients with NH. RESULTS: Neonatal hemochromatosis was diagnosed in 14 patients between 1985 and 1995. All were considered for orthotopic liver transplantation (OLTX). From 1993 onward, all patients were treated with an antioxidant-chelation "cocktail," consisting of deferoxamine, vitamin E, N-acetylcysteine, selenium, and prostaglandin-E1. Of 6 patients with NH diagnosed before 1993, 4 underwent OLTX; only 1 is still alive. Of 8 patients with NH diagnosed after 1993 and treated with the cocktail, 7 expired before OLTX. One stabilized on therapy, but having never recovered full synthetic liver function, underwent OLTX and is now alive and well. CONCLUSION: Neonatal hemochromatosis carries a grim prognosis; however, successful OLTX is curative. The use of an antioxidant-chelation cocktail did not improve outcome in the patients studied. Earlier (perinatal) diagnosis may be required for optimal results. Further study of other interventions, including antenatal diagnosis and earlier institution or modification of cocktail therapy appears warranted.

Acetylcysteine↗

PubMed1990

Pursuing mild elevations of liver enzyme values to exclude hemochromatosis.

To determine whether physicians in an academic medical center excluded hemochromatosis as a diagnosis in a population of patients with mildly elevated liver enzyme values, we reviewed 100 charts of patients with both aspartate aminotransferase and alkaline phosphatase levels that were less than twice the upper limit of normal. We analyzed each chart to determine if hemochromatosis would have been excluded by a subsequent workup. Those patients who did not have a complete workup were assigned to one of three categories: (1) no mention was made of abnormal liver enzyme values; (2) liver enzyme values were ascribed to some condition other then hemochromatosis and no definitive workup was done; and (3) the condition of the patient was so poor that assessment did not seem indicated. Ninety of 100 patients were not given a workup to exclude hemochromatosis. Physicians often ignore mild elevations in liver enzyme values.

Alkaline Phosphatase↗

PubMed2005

Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda.

BACKGROUND AND AIMS: It has been postulated that the HFE C282Y mutation (linked to human leukocyte antigen [HLA]-A3-B7 haplotype) is not only responsible for hereditary hemochromatosis; HLA class I alleles would also contribute to the disease pathogenesis. In addition, H63D mutation linked to HLA-A29-B44 would also be pathogenetic, particularly in the Mediterranean Basin and throughout the world. However, sporadic porphyria cutanea tarda (s-PCT) has also been linked to these HFE mutations. In the present work, we have studied HFE mutations and HLA genes to test these hypotheses. METHODS: C282Y and H63D mutations together with HLA genetic typing have been performed in Spanish hereditary hemochromatosis (n = 98) and PCT (n = 63) patients. The etiologic fraction (delta) has been used to determine the absolute strongest gene linkage to both diseases. RESULTS: The Spanish frequent HLA-A29-B44 haplotype is not significantly associated to the H63D mutations in hereditary hemochromatosis patients (although it is found more frequently in patients than in controls). Sporadic porphyria cutanea tarda patients do not show a significant association to H63D mutations, although it is also more frequent than in controls; however, compound H63D/C282Y subjects seem to bear a significant risk to s-PCT. Allelic C282Y (and not H63D) frequencies show a significant association with s-PCT. CONCLUSIONS: The postulated additional risk of hereditary hemochromatosis given by class I HLA antigens may be secondary to the HFE gene linkage disequilibrium with certain class I alleles or to the existence of other neighboring genetic pathogenetic factors in our Spanish sample.

Alleles↗

PubMed1986

Prevalence of hemochromatosis in a random sample of asymptomatic men.

The prevalence of hemochromatosis was studied in 343 randomly selected male World War II veterans aged 58 years and older. Those men with a serum ferritin level of greater than 700 micrograms/l or a transferrin saturation of greater than 55% underwent liver biopsy. Hepatic iron concentration was assessed histochemically and by atomic absorption spectrophotometry. Histology was assessed blindly by one histopathologist. Of 21 veterans biopsied, four men had hemochromatosis, confirmed by venesection response, and the remaining biopsies all showed some histological abnormality. All four men with hemochromatosis had a transferrin saturation of greater than 55% while only three of the four had a serum ferritin level over 700 micrograms/l. The prevalence of hemochromatosis detected in this sample was 1.2%, which is higher than that suggested by overseas studies.

Aged↗

PubMed2004

Type 3 hemochromatosis and beta-thalassemia trait.

Type 3 hemochromatosis is a rare autosomal recessive disorder due to mutations of the TFR2 gene. We describe clinical, biochemical and histopathologic findings of a patient with type 3 hemochromatosis at presentation and during a follow-up of more than 20 yr and we evaluate the effect of an associated beta-thalassemia trait on phenotypic expression. At the age of 33 yr the patient showed a marked iron overload and severe iron-related complications. After removal of 26 g of iron by subcutaneous deferoxamine infusion a marked clinical improvement was observed. Liver biopsies, performed at the age of 34 and 49 yr, indicate that in type 3 hemochromatosis there is a progressive hepatocellular iron accumulation from Rappaport's zone 1-3 and that iron loading in sinusoidal and portal macrophages occurs only in the more advanced stage. As observed in HFE hemochromatosis, the beta-thalassemia trait seems to aggravate the clinical picture of patients lacking TFR2, favoring higher rates of iron accumulation probably by activation of the erythroid iron regulator.

Adult↗

PubMedDate not supplied

Hemochromatosis in Salers cattle.

Two 2-year-old Salers cattle from different herds raised on pasture were evaluated for retarded growth and diarrhea. Increase of liver enzyme activities and prolonged sulfobromophothalein (BSP) half life (T1/2) indicated liver disease with impaired liver function. Histopathologic examination of liver biopsies revealed a micronodular cirrhosis with marked deposition of hemosiderin in hepatocytes, Kupffer cells, and arterioles. Transferrin saturation (TS) and liver iron content were markedly increased, consistent with a diagnosis of hemochromatosis. Both animals were euthanatized due to deterioration in their condition. Necropsy findings included hepatomegaly and hemosiderin accumulation in the liver, lymph nodes, pancreas, spleen, thyroid, kidney, brain and other glandular tissue. Continued surveillance of the second herd (serum iron, total iron binding capacity [TIBC], unsaturated iron binding capacity [UIBC], and TS), identified a heifer as a hemochromatosis suspect in a subsequent generation. Liver biopsies from that animal revealed the same histopathologic changes as the previous 2 animals, and similar increases in liver iron content (8,700 ppm, normal range 45 to 300 ppm). The 3 affected cattle were all products of line breeding programs and shared a common ancestor. The absence of dietary iron loading in conjunction with the histopathologic and metabolic findings were consistent with a diagnosis of primary hemochromatosis. The reported disease is similar to idiopathic hemochromatosis in human beings in which there is a hereditary defect in iron metabolism.

Animals↗

PubMed1996

Factors influencing disease expression in hemochromatosis.

Genetic hemochromatosis is one of the most common inherited disorders in Caucasian populations. The disease frequency in Caucasian populations in Australia, Europe, and the United States is 1:300-400. The basic genetic defect remains unknown, although the hemochromatosis gene is closely linked to histocompatibility antigen (HLA) A, thus allowing early diagnosis in members of affected families. Many factors-environmental, genetic, and nongenetic in nature-influence the degree of iron loading in affected individuals. In particular, pathologic and physiologic blood loss and blood donation influence iron stores in hemochromatosis. The iron concentration in the liver is an important determinant of survival because a hepatic iron concentration in excess of 400 mumol/g dry weight is usually associated with cirrhosis. Patients with cirrhosis secondary to hemochromatosis are at risk of heptocellular carcinoma and complications of portal hypertension. The combination of improved awareness of the condition and the use of HLA typing to identify affected family members has led to earlier diagnosis and therapy, and to an improvement in overall survival.

Gene Expression↗

PubMed1990

Serum ferritin as a marker of affection for genetic hemochromatosis.

A bivariate segregation analysis of genetic hemochromatosis with serum ferritin concentration was undertaken to examine the pleiotropic effect of the hemochromatosis locus on each of the two phenotypes, in an ascertained sample of families from Brittany, France. The gene was recessive with respect to both phenotypes, and the estimated gene frequency in the general population was 0.054. Although the ferritin concentration was corrected for the linear relationship with age among controls, there was a residual correlation with age among male family members, consistent with the progressive increase in body iron stores among hemochromatosis homozygotes. This genotype-specific relationship with age illustrates the importance of incorporating interaction effects into analytic models, and suggests that even as a better indicator of progress of disease, rather than liability to disease, serum ferritin concentration serves well to distinguish hemochromatosis homozygotes from alternate genotypes in a family study.

Adult↗

PubMed1978

Ascorbic acid status in idiopathic hemochromatosis.

Vitamin C status was studied, by means of leucocyte ascorbic acid concentrations, in 67 cases of idiopathic hemochromatosis subdivided into 44 untreated and 25 treated cases (2 patients belonging to both subgroups) and compared to 31 normal subjects and 37 alcoholic cirrhosis patients. The control groups exhibited the following mean levels (+/- SEM): 34.4 +/- 1.9 microgram/10(8) WBC in normals and 22.0 +/- 1.8 microgram/10(8) WBC in alcoholic cirrhosis. In idiopathic hemochromatosis the mean levels were: for the untreated group 19.5 +/- 1.7 microgram/10(8) WBC and for the treated group 34.3 +/- 2.3 microgram/10(8) WBC. These results (1) affirm an important vitamin C deficiency in the untreated disease; (2) suggest that iron overload is the main causal factor in view of the striking difference--to date unreported--between untreated and treated cases of idiopathic hemochromatosis. Besides its possible theoretical interests, this vitamin C deficiency is responsible in idiopathic hemochromatosis for a significant underestimation of the desferrioxamine-induced urinary iron excretion.

Adult↗

PubMed2004

Hepcidin is decreased in TFR2 hemochromatosis.

The hepatic peptide hepcidin is the key regulator of iron metabolism in mammals. Recent evidence indicates that certain forms of hereditary hemochromatosis are caused by hepcidin deficiency. Juvenile hemochromatosis is associated with hepcidin or hemojuvelin mutations, and these patients have low or absent urinary hepcidin. Patients with C282Y HFE hemochromatosis also have inappropriately low hepcidin levels for the degree of iron loading. The relationship between the hemochromatosis due to transferrin receptor 2 (TFR2) mutations and hepcidin was unknown. We measured urinary hepcidin levels in 10 patients homozygous for TFR2 mutations, all with increased transferrin saturation. Urinary hepcidin was low or undetectable in 8 of 10 cases irrespective of the previous phlebotomy treatments. The only 2 cases with normal hepcidin values had concomitant inflammatory conditions. Our data indicate that TFR2 is a modulator of hepcidin production in response to iron.

Adolescent↗

PubMed2001

Hepatic failure and hemochromatosis of Salers and Salers-cross cattle.

Hemochromatosis is rare in domestic mammals. Five clinical cases and one preclinical case of hemochromatosis were diagnosed in Salers and Salers-cross cattle. Clinical disease developed between 9 and 22 months of age. Animals were healthy until weaning but then lost weight, developed rough hair coats, and lost incisor teeth. In two animals, hemochromatosis was identified by liver biopsy, biochemical evidence of hepatic injury, and/or elevated transferrin saturation values. At necropsy, carcasses were thin, with firm dark brown livers and lymph nodes, soft bones, and brown-colored small bowel. The principal histologic changes were hepatocellular siderosis and periportal, bridging, and perivenular fibrosis. Siderocalcinosis involved collagen, elastin, reticulin, and basement membrane components in liver, lymph nodes, spleen, duodenum, and kidney. Hepatic iron concentrations in clinically affected cattle were 1,500-10,500 microg/g wet weight (reference range for cattle = <300 microg/ g). Ultrastructurally, the heaviest intrahepatic deposition was in hepatocytes, which contained large intracytoplasmic siderosomes. Iron deposition in bone was associated with osteopenia. Genetic analysis indicated a common ancestral bull in the pedigrees of five of six affected cattle; no pedigree was available for the remaining animal. Four dams of five affected animals were phenotypically normal and had histologically normal livers. Test mating of four cows to the ancestral bull resulted in a female calf that developed clinicopathologic and histologic evidence of preclinical hemochromatosis by 40 days of age. It was not possible to establish the pattern of inheritance because of the small number of pedigrees from affected cattle.

Animals↗

PubMed1994

An autopsy case of pyruvate kinase deficiency anemia associated with severe hemochromatosis.

We report an autopsy case of pyruvate kinase deficiency anemia with severe hemochromatosis. This anemia is rarely associated with hemochromatosis. In this case, the autopsy findings showed hemochromatosis of the heart, pancreas, liver, kidneys, thyroid gland, adrenal glands, testes and skin. Microscopic examination showed iron depositions in these organs, but not in the bone marrow. A family study showed negative data for iron overload and no known HLA type suggestive of idiopathic hemochromatosis. To explain this rare association, we suggest that this patient's iron overload was an acquired type, which might have mainly been caused by increased iron absorption due to the severe hemolytic anemia.

Adult↗