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PubMed1994

[Liver cirrhosis in primary hemochromatosis and Wilson's disease].

Iron is an essential element in all living cells because it serves machineries for biological oxidation including hemoglobin, cytochrome c oxidase, etc. Copper is also essential for mammalian life since copper is the prosthetic element of several life-essential enzymes. Although intracellular excessive iron and copper were usually sequestrated in ferritin and metallothionein molecules, accumulation of excess iron and copper may also cause severe tissue injury by including oxyradicals and lipid peroxidation and eventually bring about tissue fibrosis such as liver cirrhosis. Hemochromatosis and Wilson's disease are known as iron and copper accumulation disorders, respectively. In this chapter, we review the cirrhosis in hemochromatosis and Wilson's disease.

Hemochromatosis↗
PubMed1978

Early idiopathic hemochromatosis with absent stainable bone marrow iron stores.

Early idiopathic hemochromatosis was diagnosed in a 52-year-old woman during the course of a hospitalization for another disorder. Quantitative studies revealed massive hepatic parenchymal siderosis and absent stainable marrow iron. Additionally, intestinal absorption and hepatic sequestration of radiolabeled iron were elevated. These studies in a patient with very early hemochromatosis, before organ damage, complement observations previously made in patients with advanced disease and provide further support for the concept that this disorder may result from impaired reticuloendothelial handling of iron.

Bloodletting↗
PubMed1993

Idiopathic hemochromatosis: a study in a large Puerto Rican family.

We studied 13 first-degree relatives in a large family with an index case of idiopathic hemochromatosis to detect the relatives with evidence of iron overloading. Serum iron, total iron binding capacity (TIBC), and serum ferritin levels were measured in all family members. We also performed HLA typing to identify the relatives who are homozygous with the proband and genetically predisposed to develop the disease. The family was composed of the parents and 12 siblings including the index case. The mean age of the siblings was 25 years. None presented with evidence of iron overload by the iron biochemical tests. HLA typing demonstrated six homozygous siblings with the proband. In separate analysis these siblings did not present abnormalities in any of the iron biochemical tests. These homozygous relatives were followed for one year after initial evaluation and none presented abnormalities in the iron studies during this period. These results are contradictory to other previous studies done in families with idiopathic hemochromatosis. The most feasible explanations for these findings are the young age of these siblings and the predominance of females among them. We consider that these homozygous relatives must be followed for their life-times with iron studies to detect a possible increase in iron stores as expected in later ages.

Adolescent↗
PubMed1994

Low vitamin E content in plasma of patients with alcoholic liver disease, hemochromatosis and Wilson's disease.

The RRR-alpha-tocopherol (vitamin E) content in plasma from 46 patients with liver diseases and 23 healthy controls was determined by high performance liquid chromatography and electrochemical detection. Patients were divided into three groups: alcoholic liver diseases (n = 17; group A), hemochromatosis (n = 17; group B) and Wilson's disease (n = 12; group C). Lipid-standardized alpha-tocopherol levels were determined to neutralize differences due to hyperlipemia. The ratio of serum vitamin E to serum lipids (cholesterol, triglycerides, phospholipids) was highest in healthy controls and in patients in group A with cirrhosis and normal transaminases and bilirubin. Patients in group A with acute or chronic ethanol intoxication and high bilirubin levels had a 37% lower lipid-standardized vitamin E level than controls. Patients in group B with hemochromatosis, showing high serum iron (> 180 micrograms/dl), a low free iron binding capacity (< 8 mumol/l) and high ferritin-levels (< 450 micrograms/l), had a 34% lower vitamin E/lipid ratio than healthy controls. No significant lowering of the vitamin E/lipid ratio was observed in the other patients in group B. A significant decrease (37%) in the vitamin E/lipid ratio was only detectable in patients with Wilson's disease (group C) showing high free serum copper (> 10 micrograms/dl). The data support a role for free radicals in the pathogenesis of active liver diseases.

Adult↗
PubMed1993

[Arthropathy in hemochromatosis].

Early diagnosis of hemochromatosis may prevent the numerous risks of iron overload. One of the most common early manifestations of this disease is arthropathy. The clinical and radiologic findings of hemochromatosis arthropathy are discussed. Diagnosis is suggested by simple laboratory tests and confirmed by liver biopsy with measurement of hepatic iron content. Treatment includes the removal of the excess body iron by phlebotomy. Unfortunately, symptoms of arthropathy tend to be resistant to phlebotomy.

Aged↗
PubMed1993

[Hemochromatosis in a newborn].

Literature data on the incidence, pathogenesis, clinical course and morphology of primary (hereditary) hemochromatosis are given. A case of primary hemochromatosis in a newborn is described. The genesis of early and massive iron deposits in tissues is probably connected with high affinity of tissues to iron the deposition of which obviously started during the intrauterine period.

Hemochromatosis↗
PubMed1993

Rapid development of lymphoma following liver transplantation in a recipient with hepatitis B and primary hemochromatosis.

We report a case of a posttransplant lymphoproliferative disorder (PTLD) which presented in a liver allograft shortly after transplantation. The patient, who had been transplanted because of cirrhosis due to primary hemochromatosis and chronic hepatitis B infection (HBV), developed early recurrent HBV in the graft, and 2 months after transplantation, liver biopsies showed a malignant large-cell lymphoma. The neoplastic cells demonstrated Epstein-Barr virus DNA by in situ hybridization. The patient died 3.5 months posttransplant due to liver failure. At autopsy, the liver showed nodules of malignant lymphoma, massive hepatic necrosis, and iron overload, but no evidence of rejection. This report suggests that the grafted liver can be the site of PTLD in recurrent HBV and hemochromatosis.

Adult↗
PubMed1993

Arthritis in hemochromatosis.

We reviewed the clinical and radiographic features of arthropathy in 25 subjects with hemochromatosis, 16 probands and 9 discovered homozygous relatives. Clinical arthritis was present in 15/16 probands and 1/9 discovered homozygotes (p < 0.005). Radiologic evidence of arthropathy was seen additionally in 2 asymptomatic discovered homozygotes. The metacarpophalangeal joints and wrists were most commonly involved; severe hip disease occurred in 6. Patients with clinical or radiologic arthropathy were older than patients without. Arthropathy occurred in all 4 female probands, but in none of the 3 female discovered homozygotes. Chondrocalcinosis was seen in 9 subjects but was usually asymptomatic. The arthritis of hemochromatosis may be difficult to differentiate from several other joint diseases, especially calcium pyrophosphate dihydrate deposition disease.

Adult↗
PubMed1996

Hemochromatosis: diagnosis and management.

Hemochromatosis is a disorder of iron metabolism that causes progressive damage to the liver, pancreas, heart and other organs. It is the most common autosomal recessive disorder among whites, and it occurs five times more frequently in males than in females. Manifestations include diabetes mellitus, hepatic dysfunction, congestive heart failure and other end-organ insufficiency. The presentation of hemochromatosis is often nonspecific, requiring the clinician to maintain a high index of suspicion. The diagnosis is suggested by abnormal iron studies, most notably an elevated serum ferritin level and/or transferrin saturation. Liver biopsy can confirm the diagnosis and document the presence of cirrhosis. The diagnosis is also supported by characteristic findings on a magnetic resonance imaging scan, and a diagnostic response to repeated phlebotomy (a hematocrit level that rapidly returns to normal). Phlebotomy treatments reduce the total body iron load, prevent continuing deposition of iron in the tissues, and prevent premature morbidity and mortality. Screening is recommended in affected families, and screening programs for wider populations are being evaluated.

Adult↗
PubMed1996

[Genetic hemochromatosis: importance of population screening?].

Genetic hemochromatosis is a metabolic autosomal-recessive disease characterized by an iron excessive absorption; its subsequent accumulation in the liver, hearth, pancreas and endocrine glands, gives rise to organ damage and dysfunction. Recent studies of both screening tests and natural history have shown that the illness, once thought to be rare and fatal, is quite frequent (up to 2-5 homozygotes for 1000 inhabitants) and when recognized and treated before onset of cirrhosis, subjects affected have a normal life expectancy. Consequently, in order to reduce mortality from genetic hemochromatosis, mainly due to liver cirrhosis, frequently complicated with hepatocellular carcinoma, or congestive hearth failure, early diagnosis and therapeutic phlebotomy are essential. In order to achieve these aims, besides high clinical suspicion and familiar study, is fundamental to conduct systematic screening since, at present, little use is being made of this, even though numerous studies have recently shown its low cost and efficacy. The Authors, after an extensive review of the literature, underline the feasibility of screening on the general population and its extremely advantageous cost/benefit ratio.

Adult↗
PubMed1996

End stage liver disease in a 13-year old secondary to hepatitis C and hemochromatosis.

Hepatic parenchymal iron deposition is a well-known complication of chronic hepatic inflammatory states. This can make the differential between chronic hepatitis and hereditary hemochromatosis difficult, however. The case of a 13-yr-old male with chronic hepatitis C and hereditary hemochromatosis resulting in end stage liver disease and the need for orthotopic liver transplantation is described. There has been no previously described case of the coexistence of these two diseases in a pediatric patient, resulting in end stage liver disease. The progression to cirrhosis in a patient of this age suggests a more rapid progression of the combined diseases than with either disease alone.

Adolescent↗
PubMed1977

Diagnostic value of bone marrow iron deposits in idiopathic hemochromatosis.

The stainable iron content of the bone marrow of four patients with documented idiopathic hemochromatosis were reviewed. There was a moderate increase in hemosiderin deposits in each case, but the striking difference in the morphologic appearance of these deposits was more important. These consisted of small, uniform, closely packed granules that may be readily distinguished from the bone marrow iron found in normal persons and in persons with other disorders. This should serve as an additional simple diagnostic aid in patients with idiopathic hemochromatosis.

Adult↗
PubMed1997

Hereditary hemochromatosis.

Hereditary hemochromatosis (HHC) is an inherited disease transmitted in an autosomal recessive pattern. With homozygosity occurring in up to 0.5% of the population, HHC is the most prevalent genetic disease among the white population worldwide and has the same prevalence as the sickle cell trait in the African-American population. An asymptomatic 50-year-old white man presented at the family practice clinic and stated that HHC had been diagnosed in his mother. Laboratory findings showed markedly elevated transferrin saturation and ferritin levels. The diagnosis of HHC was made on the basis of the laboratory results and family history, and therapy was begun. Clinical manifestations of HHC occur late and include diabetes mellitus, cirrhosis, and cardiomyopathy. As end-organ damage is preventable, optimal management involves early diagnosis and lifelong phlebotomy. Diagnosis is made by an elevated transferrin saturation level and an increased serum ferritin value. Hereditary hemochromatosis is a genetic disorder of iron metabolism that has an excellent prognosis if diagnosed early.

Female↗
PubMed1997

Inappropriately high iron regulatory protein activity in monocytes of patients with genetic hemochromatosis.

In genetic hemochromatosis (GH), excess iron is deposited in parenchymal cells, whereas little iron is found in reticuloendothelial (RE) cells until the later stages of the disease. As iron absorption is inversely related to RE cells stores, a failure of RE to retain iron has been proposed as the basic defect in GH. In RE cells of GH subjects, we examined the activity of iron regulatory protein (IRP), a reliable indicator of the elusive regulatory labile iron pool, which modulates cellular iron homeostasis through control of ferritin (Ft) and transferrin receptor gene expression. RNA-bandshift assays showed a significant increase in IRP activity in monocytes from 16 patients with untreated GH compared with 28 control subjects (1.5-fold) and five patients with secondary hemochromatosis (SH) with similar iron burden (fourfold). In 17 phlebotomy-treated GH patients, IRP activity did not differ from that of control subjects. In both GH and SH monocyte-macrophages, Ft content increased by twofold and the L subunit-rich isoferritin profile was unchanged as compared with controls. IRP activity was still upregulated in vitro in monocyte-derived macrophages of GH subjects but, following manipulations of iron levels, was modulated normally. Therefore, the sustained activity of monocyte IRP found in vivo in monocytes of GH patients is not due to an inherent defect of its control, but is rather the expression of a critical abnormality of iron metabolism, eg, a paradoxical contraction of the regulatory iron pool. By preventing Ft mRNA translation, high IRP activity in monocytes may represent a molecular mechanism contributing to the inadequate Ft accumulation and insufficient RE iron storage in GH.

Adult↗
PubMed1977

Hemochromatosis associated with side-to-side portacaval shunt.

A patient is described who developed the full-blown picture of hemochromatosis 24 months after a side-to-side portacaval shunt. No clear-cut explanation for this rapid development of hemochromatosis is apparent and a possible mechanism for this phenomenon is discussed.

Esophageal and Gastric Varices↗
PubMed1997

Unilateral hemochromatosis arthropathy on a neurogenic basis.

We describe a 42-year-old man with right hemiplegia from cerebral palsy who presented with chronic left arm pain. Examination revealed 12 active joints, predominantly in the left hand. Radiographs showed characteristic changes of an advanced secondary osteoarthritic process in the left hand and only minimal changes on the right. Bone scan confirmed unilateral activity. Subsequent investigations diagnosed hemochromatosis. Unilateral arthropathy of hemochromatosis on a neurogenic basis has not been previously reported.

Adult↗
PubMed1994

Screening for hereditary hemochromatosis in prospective blood donors.

Prospective blood donors (n = 1,265, mean age 26 years) were screened for elevated serum ferritin and serum iron. Final diagnosis for hereditary hemochromatosis was made by liver iron concentration (noninvasive biomagnetometry), transferrin saturation, and 59Fe absorption in 3 male subjects. This preliminary result confirms for the first time the current frequency estimation of homozygous hemochromatosis (0.2-0.6%) in a group of young North-Germans.

Adult↗
PubMedDate not supplied

Juvenile and adult hemochromatosis are distinct genetic disorders.

Juvenile Hemochromatosis (JH) is a rare genetic disorder that causes iron overload. JH clinical features are similar to those of hemochromatosis (HFE), but the clinical course is more severe and is characterized by an earlier onset and by a prevalence of cardiac symptoms and endocrine dysfunctions. Here we describe seven Italian patients belonging to five unrelated families with clinical features typical of JH. In four out of five families the parents were consanguineous. Analysis of HFE gene mutations in all the cases and nucleotide sequence of the gene in one case excluded this gene as responsible for JH. Segregation analysis of 6p markers closely associated with HFE in families with consanguineous parents clearly showed that JH is unlinked to 6p and thus genetically distinct from HFE.

Adolescent↗