Hereditary hemochromatosis.
Hereditary hemochromatosis is definitively diagnosed based on liver biopsy findings.
Alanine Transaminase↗
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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↗
Hepatoma in a 40-year old male with hereditary hemochromatosis in the absence of cirrhosis. Implications of molecular diagnosis.
Hepatocarcinoma is a poor-prognosis complication of hereditary hemochromatosis (HH). It occurs with a frequency rate of 10-20%. It is usually diagnosed during the 6th or 7th decade of life, and it appears almost exclusively in association with liver cirrhosis or in the presence of other known risk factors such as HBV or HCV. We present a case of hepatocarcinoma in a 40-year-old male with a long history of ethanol abuse of more than 100 g/day. The patient was studied through familial HH screening, and firstly diagnosed of HH on the base of biochemical blood tests. Subsequently, a C282Y mutation--homozygous--was identified. Studies performed on the patient did not suggest liver cirrhosis. Serology for HBV and HCV was negative. Concurrently, the patient presented an isolated liver lesion of 4 cm in segment 6 of the right lobe. Imaging techniques suggested an hepatoma. A surgical resection of the tumor by right hepatectomy was performed. The diagnosis of HH, complicated by hepatoma, on a non-cirrhotic liver was confirmed. After 2 years of post-surgery follow-up, a period during which the patient underwent treatment including periodic phlebotomies, he remains asymptomatic and with no signs of tumor recurrence.
Adult↗
[Primary hemochromatosis].
Authors describe in the case report a development of the primary hemochromatosis. At the time of the diagnosis in 1979 from organ complication the liver fibrosis and secondary diabetes mellitus were presented. Patient was treated with the venepunctions and with desferoxamine. In the 1998 the primary hepatocellular tumor was found and resected. Instead of the chemotherapy occurred the progression of the disease with multiple metastases and liver insufficiency and 66-years old patient died 19 months after surgery in the 20th year of the disease.
Aged↗
An analysis of the proposal for population based screening for hereditary hemochromatosis in Massachusetts.
The Massachusetts Senate is considering a bill which would require a screening test for iron overload diseases when such a test is medically necessary. The legislation is also authorized to establish, promote, and administer a statewide early detection program for the detection of hereditary hemochromatosis. Despite the challenges to a successful screening program which have been documented in the medical literature and the potential for genetic discrimination, the public health benefits justify this legislation as long as the necessary modifications and precautions are established.
Genetic Testing↗
[Study of genetic factors, determining the development of hereditary hemochromatosis].
More and more attention has been paid to diseases with a complicated nature of their inheritance for the past years. This interest to multi-factorial diseases is mainly determined by the fact that many hereditary diseases, which were initially believed to have a monogenic nature, turned out later to be multi-factorial ones. Inherited hemochromatosis belongs to such diseases.
Adult↗
Population genetics of hereditary hemochromatosis in Saguenay Lac-Saint-Jean (Quebec, Canada).
Hereditary hemochromatosis (HH) is an autosomal recessive disorder that has a high prevalence in Caucasian populations. Based on HLA typing in 18 families, the gene frequency was estimated 0.12. The homozygote frequency was 0.014 and the heterozygote frequency was 0.21 in Saguenay Lac-Saint-Jean (SLSJ), a geographically isolated region of northeastern Quebec. The genealogical reconstruction showed that 15 of the 57 obligate carriers of the HH gene could be traced back to a unique ancestor in the 18th century. The mean coefficients of inbreeding and kinship were 17 and 15 times, respectively, higher in the HH group than in three control groups. The values of both coefficients were much higher than those found in other HH populations and in most of the other recessive disorders prevalent in SLSJ.
Consanguinity↗
[Survival and development of neoplasms in 56 patients with idiopathic hemochromatosis].
Fifty-six patients with idiopathic hemochromatosis (50 men and 6 women, mean age 49.7 +/- SD 11.1 and 60.8 +/- SD 10.3 years respectively) were studied and followed up for a median period of 44 months (range 3-168). At basal liver biopsy 44 patients had cirrhosis and 12 fibrosis. Iron depletion was achieved in 39 of the 46 cases who underwent iron removal by erythrocytapheresis. Eighteen patients died, 11 from malignancy and 7 from other causes. A total of 14 malignant neoplasms were observed (6 hepatocellular and 8 extrahepatic), of which 6 (5 hepatocellular and 1 pancreatic) were already evident at enrollment. Cumulative survival rates at 3, 5 and 8 years were 75.4%, 64.2% and 54.4% respectively, significantly lower than those in the general population. Probabilities of developing cancer in the 50 patients without cancer at diagnosis were 5.5%, 14.9% and 44.4% at 3, 5 and 8 years respectively.
Carcinoma, Hepatocellular↗
[Clinic and therapy of idiopathic hemochromatosis. Report of 51 cases (author's transl)].
Idiopathic hemochromatosis is a genetical defect leading to continuous accumulation of iron. Symptomatology is caused by iron deposition in different organs. Phlebotomy is by far the most efficient therapy. Case reports are given of 51 cases in different stages of the disease, all of which were proved by biopsy. Taking into account data of these cases some aspects of heredity, history and clinical symptomatology of this metabolic disease are discussed; histological and peritoneoscopic findings during the course of the disease under management by phlebotomy are demonstrated. On 46 patients treated in this was 25 were freed of iron deposits and 5 improved. In most cases there was a reduction of collagenous tissue in the liver. In some, and even in far advanced cases, almost complete anatomical and clinical normalization could be reached. Prognosis depends upon early diagnosis and consequent long-term treatment by phlebotomy.
Adult↗
[Hereditary hemochromatosis--diagnostic and therapeutic options].
Hereditary hemochromatosis is an autosomal recessive disorder resulting in iron overload. A progressive increase in total body iron stores leads to deposition of iron in parenchymal organs and to subsequent damage to these organs. The identification of the HFE gene and its mutations has stimulated much additional interest in this under-recognized but evidently treatable chronic disease. The goal for diagnosing the disease is to identify presymptomatic patients who will respond more favorably to phleobotomy which may prevent future chronic disease.
Hemochromatosis↗
Repeated isovolemic large-volume erythrocytapheresis in the treatment of idiopathic hemochromatosis.
In order to assess the effectiveness of cytapheresis as a possible alternative therapy for iron depletion, we performed a prospective study on eight unrelated patients with idiopathic hemochromatosis (HC). Isovolemic large-volume erythrocytapheresis (EA) (1000 ml apherisate) was carried out every four weeks until serum ferritin levels dropped below 300 micrograms/l (initial therapy). In all patients iron depletion was achieved after a mean of 8.5 months (8.9 EA with a total removal of 9.41 RBC). Serum ferritin levels decreased during initial therapy from 2596 +/- 399 to 168 +/- 83 ug/l. Serum iron level (240 +/- 35 to 125 +/- 48 ug/dl) and transferrin saturation (91 +/- 6 to 19 +/- 10%) declined accordingly. Clinical reexamination after initial therapy revealed improvement of clinical symptoms, normalization of hepatic iron, but liver histology remained unchanged. Reaccumulation of iron was prevented by maintenance EA therapy every five to six months (follow-up 18-36 months). Isovolemic large-volume EA is an effective, fast and safe method to remove excessive stored iron in patients with HC. Compared to phlebotomy, EA can selectively remove RBC, while saving plasma proteins, platelets, and clotting factors. Although, the need for special equipment and trained personnel as well as the relatively high costs are limiting factors of EA so far, it can be of crucial advance in some patients with HC.
Adult↗
Use of desferoxamine and S-adenosylmethionine to treat hemochromatosis in a red ruffed lemur (Varecia variegata ruber).
Hemochromatosis was diagnosed in a 14-year-old, male, red ruffed lemur (Varecia variegata ruber) on the basis of abnormal results of serum biochemical analysis, including high serum ferritin and transferrin saturation values, and of liver biopsy. Therapy included chelation, using desferoxamine to remove excess iron and S-adenosylmethionine to improve liver function, and monthly peripheral blood removal by phlebotomy to reduce total body iron content. Response to treatment was assessed by changes in the lemur's attitude and appetite, as well as variations in serum biochemical and iron panel values. Initial improvement was associated with the onset of therapy. After 56 days of treatment, results of serum biochemical analysis indicated a decrease in iron panel values. Treatment was temporarily discontinued from days 56 to 65, and the lemur's condition worsened, so therapy was re-instituted. However, the lemur died of hepatocellular carcinoma on day 110 of treatment.
Animals↗
Porphyria cutanea tarda, hepatitis C, alcoholism, and hemochromatosis: a case report and review of the literature.
Porphyria cutanea tarda (PCT) is associated with estrogen, certain medications, alcohol abuse, hepatitis viruses, and iron overload. Numerous studies have demonstrated an increased incidence of hepatitis C in patients with PCT; therefore, hepatitis screening should be routinely performed on these patients. On the other hand, although studies have long suspected hereditary hemochromatosis (HH) to be an underlying condition of PCT, many physicians have a low index of suspicion. Also, diagnosis of HH has been difficult until recently, when the gene mutation was identified. We present a case of a patient with PCT, hepatitis C, and alcoholism who was homozygous for the HH gene mutation.
Alcoholism↗
Hemochromatosis gene mutations and distal adenomatous colorectal polyps.
Iron has been suggested to be a risk factor for colorectal neoplasia. Some individuals who are heterozygous for mutations in the hemochromatosis gene (HFE) have higher than average serologic measures of iron. We therefore investigated whether heterozygosity for HFE mutations was related to risk of advanced distal adenoma and whether the relationship was affected by dietary iron intake. In the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, 679 persons with advanced distal adenoma and 697 control persons were genotyped for the two major HFE mutations (C282Y and H63D), one HFE polymorphism (IVS2+4), and one polymorphism (G142S) in the transferrin receptor gene (TFRC). HFE haplotypes were also created to examine the effect of haplotype on risk. Food frequency questionnaire data were used to estimate daily iron intake. There was no relationship between any HFE genotype or haplotype and advanced adenoma. Stratification of HFE genotype by TFRC genotype did not change the results. In addition, there was no relationship between dietary iron intake and risk of adenoma or between HFE genotype and risk of adenoma, stratified by iron intake. These results do not support a relationship between HFE heterozygosity and risk of advanced distal adenoma.
Adenomatous Polyps↗
Change in the thyroid function by use of deferoxamine in a patient with hemochromatosis complicated by hyperthyroidism.
We report on a 74-year-old female patient with primary hemochromatosis complicated by hyperthyroidism. The serum ferritin level was reduced throughout a 217 day administration of deferoxamine (1 g/day). At the same time, the thyroid gland was changed from hyper- to hypo- functional proportionally.
Aged↗
An unusual case of ulcerative colitis with concurrent extraintestinal manifestations of primary sclerosing cholangitis, thromboembolism, hemolytic anemia, and hemochromatosis.
Inflammatory bowel disease (IBD) is a chronic inflammatory disorder of intestines associated with a large number of extraintestinal manifestations (EIMs) which significantly contribute to its morbidity and mortality. A 32-year-old man presented with ulcerative colitis (UC) accompanied by the unusual coexisting clinical manifestations of primary sclerosing cholangitis, thromboembolism, and hemolytic anemia during the disease course. The incidental finding of hemochromatosis of the liver was attributed to chronic hemolysis. The full-blown EIMs and systemic complications in this patient did not appear to be attributable to drug treatment and/or infection but might have been related to both the underlying immune-mediated mechanism and the lack of early and adequate treatment for UC and its associated complications. This case emphasizes the need for early and aggressive treatment of IBD accompanied by EIMs to avoid morbidity and mortality.
Adult↗
Hemochromatosis-causing mutations C282Y and H63D are not risk factors for atherothrombotic cerebral infarction.
BACKGROUND: It has been suggested that iron metabolism may be involved in the pathogenesis of atherothrombotic cerebral infarction (ACI). The C282Y and H63D mutations in the hemochromatosis (HFE) gene are associated with increased serum iron levels and net iron accumulation. The aim of this study was to test the hypothesis that the C282Y and H63D mutations in the HFE gene are risk factors for ACI in a Slovene population. MATERIAL/METHODS: The C282Y and H63D HFE gene mutations were tested in 96 Caucasian patients who had suffered an acute cerebral infarction, later confirmed as ACI, and 115 control subjects. Genotypes were determined by electrophoresis of the DNA digestion products from RsaI (C282Y) and MboI (H63D). RESULTS: We failed to demonstrate that the C282Y and H63D mutations were risk factors for ACI in Caucasians. The percentage of C282Y and H63D genotypes (dominant model) in ACI-cases (C282Y: 7.3%, n=7; H63D: 28.1%, n=27) did not differ significantly (P=0.9 and P=0.7 respectively) from that of the controls (C282Y: 7.0%, n=8; H63D: 26.1%, n=30). Logistic regression analysis revealed that arterial hypertension, diabetes, and cigarette smoking are independent risk factors for ACI, whereas the C282Y and H63D HFE gene mutations are not. CONCLUSIONS: We provided evidence that the C282Y and H63D HFE gene mutations were not risk factors for ACI in this Slovene population.
Aged↗
[Hereditary hemochromatosis and diabetes mellitus: diagnostic approach and clinical evolution].
We report the characteristics of diabetes mellitus in 10 patients with a suspicion of hereditary hemochromatosis. The results of this personal series were compared to literature's data described in a recent article. Early diagnosis and treatment by phlebotomy can improve blood glucose control in the early stages of the disease. If diagnosis occurs later, when the patient already needs insulin therapy, diabetes will not be improved by phlebotomy anymore.
Adult↗