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Hereditary hemochromatosis (HHC) is one of the most common inherited disorders in the Caucasian population. Diagnosis usually made after an elevation in ferritin and serum transferrin saturation is noted, often accompanied by asymptomatic hepatomegaly. Diagnosis is confirmed by genetic testing or liver biopsy. Damage to organs is due to excessive intestinal iron, which is transported to and then deposited in the liver parenchyma, and the heart, skin, and endocrine organs, causing skin pigmentation, development of cirrhosis and hepatic carcinoma, diabetes and endocrine failure, and heart failure. Bony changes can be manifested by arthritis, often in non-weight-bearing joints. The treatment of HHC is phlebotomy, which depletes iron stores. When diagnosis is made before organ damage occurs, treatment can prevent manifestations of the disease. Skin pigmentation and some cardiac damage may reverse on depletion of iron stores, but liver and endocrine damage is rarely reversible. Arthropathy is also not reversible, and often continues to progress even with effective treatment. When hemochromatosis is diagnosed, all first degree relatives of the patient should undergo genetic testing. With early detection and treatment this can be a manageable chronic disease. If undetected, it is potentially fatal.
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PMID:Hereditary hemochromatosis: diagnosis and treatment in primary care. 1054 25

We studied peripheral blood erythrocyte parameters and HFE genotypes in 94 hemochromatosis probands and 132 white, normal control subjects. Mean red blood cell counts in probands and control subjects were not significantly different. However, mean values of hemoglobin, hematocrit, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC) were significantly higher in C282Y/C282Y probands (n = 60) than in wild-type control subjects (n = 65). Probands with other HFE genotypes also had increased mean erythrocyte parameters (other than red blood cell count). Peripheral blood smears prepared before therapeutic phlebotomy revealed that erythrocytes in many probands had increased diameters and were well filled with hemoglobin. Erythrocyte parameters were similar in C282Y/C282Y probands with and without hepatomegaly, elevated serum concentrations of hepatic enzymes, hepatic cirrhosis, diabetes mellitus, arthropathy, or hypogonadism. Among C282Y/C282Y probands, significantly greater values of MCV (but not other erythrocyte parameters) occurred among those who had transferrin saturation values of 75% or greater or iron overload at diagnosis. After iron depletion, the mean MCV, MCH, and MCHC values of C282Y/C282Y probands decreased but remained significantly greater than values in wild-type control subjects. Mean values of prephlebotomy MCH and MCHC concentrations were lower in HLA-A3-positive than in HLA-A3-negative C282Y/C282Y probands. We conclude that increased values of mean hemoglobin, hematocrit, MCV, MCH, and MCHC in hemochromatosis probands are caused primarily by increased iron uptake and hemoglobin synthesis by immature erythroid cells. Mechanisms of iron uptake by erythrocytes that could explain these results are discussed.
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PMID:Peripheral blood erythrocyte parameters in hemochromatosis: evidence for increased erythrocyte hemoglobin content. 1063

Neuropathic arthropathy is a chronic, progressive degenerative disorder affecting one or more peripheral or vertebral articulations, which develops as the result of a disturbance in the normal sensory (pain or proprioceptive) innervation of joints. Diabetes, syphilis, and syringomelia are the most commonly associated clinical entities. When neuropathic arthropathy is suspected, careful clinical evaluation should be performed to identify an underlying neurologic disorder. Patient education, joint protection, and early recognition of fractures are the most important general management principles. Surgery can be considered in cases of advanced joint destruction when there is significant disability.
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PMID:Neuropathic Arthropathy: Review of Current Knowledge. 1079 44

Acromegaly is a chronic, debilitating condition caused by excessive secretion of growth hormone (GH). In the majority of cases the condition results from benign pituitary adenomas or, rarely, from ectopic production of GH-releasing hormone. Regardless of the cause, excess GH results in physical disfigurement associated with arthropathy, diabetes, hypertension, cardiac dysfunction, obstructive sleep apnea and colonic neoplasia. The death rate for acromegalic patients is 2 to 3 times higher than that of the general population, but with appropriate reduction of GH hypersecretion it tends to shift into the normal range. Treatment is thus aimed at normalizing GH secretion; eradicating or stabilizing the pituitary tumour while preserving normal pituitary function, and managing the associated complications. The treatment modalities available to achieve these objectives include transsphenoidal surgery, pharmacotherapy and radiation, or various combinations of these. This review provides an update on our current understanding of the pathophysiology of GH hypersecretion in acromegaly, the newly defined diagnostic criteria and the end point for a cure for acromegaly, and on new developments in drug treatment with the advent of slow-release forms of somatostatin analogues and the longer-acting dopamine receptor agonists, as well as in the area of radiotherapy. Its main purpose is to guide any physician involved in the diagnosis and management of patients with acromegaly.
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PMID:Guidelines for the diagnosis and treatment of acromegaly: a Canadian perspective. 1091 48

Obesity is one of the pathologies with ever-increasing prevalence in modern societies. Its occurrence is strongly associated with increased risk of developing diabetes mellitus, atherosclerosis, hypertension, stroke, heart and respiratory failure, breast, prostate and gut cancer, gall stones, arthropathy. Obesity is common in Polish population. Obesity treatment is difficult and frustrating. It consists of several parts like diet, increased physical activity, lifestyle changes, drug therapy and surgery. However, obesity treatment is very often a failure, mostly because of discouraging long-term results and the necessity of intensive patient's involvement in the therapy. For many patients and doctors weight-decreasing agents look promising. The groups of anti-obesity drugs are presented in the article, with special reference to serotoninergic agents and intestinal lipase inhibitors. The prospects for new anti-obesity agents are discussed. Nevertheless, despite intensive research on obesity, we are still waiting for the development of an effective and safe drugs helping lose weight.
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PMID:[The role of pharmacotherapy for treatment of obesity in adults]. 1120 19

The localization of neurogenic osteopathy in the hindfoot often results in deformities which cannot be corrected by conservative methods. Indications for operation are recurring ulcers, deep infection, and reduced stability with progressive deformity. The aim of this study was to ascertain whether external fixation enables reestablishment of foot stability even when the osteoarthropathic processes have not entirely ceased. A bilaterally mounted Hoffman 2 fixator was used for open repositioning and restabilization on 14 patients with osteoarthropathy of the hindfoot: 12 had diabetes mellitus and 13 had florid processes. Revision with axial correction was necessary in 2 patients. One underwent amputation according to Syme and received a prosthesis. Thirteen were completely remobilized: ten were fitted with an orthosis and three with a rigid orthopedic shoe. Complicated deformities of the hindfoot from neurogenic arthropathy can be satisfactorily restabilized in the edematous and demineralizing stages by surgery and the application of external fixation.
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PMID:[External fixator for reconstruction of foot statics in neurogenic osteoarthropathies]. 1135 42

Hemochromatosis is a genetic disease of iron overload due to intestinal hyperabsorption of iron. It is one of the most prevalent autosomal recessive diseases in Caucasian populations. Hemochromatosis causes severe visceral and metabolic complications at adulthood, which include cirrhosis, diabetes, arthropathy and cardiac failure. A major breakthrough has been the discovery, in 1996, of the HFE gene which is strongly associated with the phenotypic expression of the disease. This discovery has, very quickly, provided a powerful genetic blood test which permits, in most cases, to establish the diagnosis in a non invasive way (i.e. without a liver biopsy). Hemochromatosis can be cured by repeated venesections provided the diagnosis has been detected sufficiently early. Moreover, an efficient preventive strategy can be applied to family members and should now be proposed to the general population. Finally, the identification of the HFE gene has paved the way for the identification of new iron overload entities.
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PMID:Hemochromatosis at the intersection of classical medicine and molecular biology. 1155 26

The object was to analyze, in a nationwide survey, the incidence and course of hereditary hemochromatosis in relation to the degree of iron overload and the presence of organ damage. The study included 179 Danish Caucasian patients with clinically overt hemochromatosis diagnosed between 1948 and 1985. A cohort of 158 patients was followed for a median of 8.5 years (range: 0.2-29.5). From 1951 to 1975, the yearly relative incidence rate was constant: 0.58/100,000 persons >20 years of age. From 1981 to 1985, the yearly relative incidence rate rose to 1.40/100,000 persons >20 years of age. Survival was reduced in the entire series when compared with a matched control population ( p<0.0001). There was a steady increase in survival from 1948 to 1985 ( p<0.002). Survival was significantly reduced in patients with liver cirrhosis and/or diabetes mellitus ( p<0.01). In contrast, survival in patients without cirrhosis or diabetes was similar to rates expected. Survival in patients with arthropathy was higher than in patients without joint affection ( p<0.004). Patients adequately treated with phlebotomy ( n=66) had a higher survival than inadequately treated patients ( n=62; p<0.0001). Adequately treated patients with cirrhosis and/or diabetes had better survival than inadequately treated patients with similar organ damage ( p<0.001). The main causes of death were hepatic failure due to cirrhosis (32.0%) and cirrhosis with liver cancer (23.1%). Sharpened diagnostic awareness has improved early diagnosis and increased the diagnostic frequency of clinical hemochromatosis. Adequate phlebotomy treatment was the major determinant of survival and markedly improved prognosis. Early detection and treatment of this common iron overload disorder is crucial and can completely prevent any excess mortality caused by hemochromatosis.
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PMID:Clinically overt hereditary hemochromatosis in Denmark 1948-1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients. 1179 15

The outcome of bacterial arthritis is generally poor: the mortality is 10 - 15% and there is loss of joint function in 25 - 50% of the survivors. The incidence of bacterial arthritis is low: 2 - 6 cases per 100,000 people per year. Risk factors are age, joint disease (especially rheumatoid arthritis [RA]), diabetes mellitus and the presence of a prosthetic joint. The predominant situations that can lead to bacterial arthritis are skin infections of the feet and rarely invasive medical or dental procedures. Due to the severity of the disease, antibiotic prophylaxis of haematogenous bacterial arthritis in patients with prosthetic joints is advocated. However, due to the rarity of the disease it is unclear whether the advantages of prophylaxis outweigh the disadvantages of the large-scale use of antibiotics, such as side effects, costs and bacterial resistance. In a decision-analysis of a large group of patients with joint diseases, antibiotic treatment of skin infections appeared to be cost-effective in the prevention of haematogenous bacterial arthritis, mainly in high-risk patients. On the other hand, prophylaxis around medical or dental procedures was not cost-effective, except possibly in a small group of patients with increased risk.
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PMID:Cost-effectiveness of antibiotic prophylaxis for bacterial arthritis. 1186 78

Hereditary hemochromatosis is an inherited autosomal recessive disease, associated to a mutation in the recently described HFE gene, which is located on the short arm of chromosome 6. The product of this gene combines with the beta-2-microglobulin and the ferritin receptor, and regulates the iron absorption in the small intestine crypt cells. It is possible that the mutation may cause the increased iron uptake by the intestinal cells. The disease is very much common in men after the forties, and its expression is influenced by concomitant alcoholism, iron rich diet, oral and parenteral iron administration, menstrual blood loss or abnormal hemorrhages, blood donations, pregnancy, lactation, and iron malabsorption clinical conditions, like celiac disease. Many patients are asymptomatic, and the diagnosis may be suspected by hepatomegaly of unknown cause, abnormal iron metabolism tests, increased serum aminotransferase levels, diabetes mellitus, and anonymous arthropathy. Less commonly hereditary hemochromatosis presented by symptoms and signs of chronic liver disease, or by the classic triad described by Trousseau skin pigmentation, hepatomegaly and diabetes mellitus. The diagnosis is confirmed by the increased serum ferritin levels and transferrin saturation, and the stainable iron in hepatocytes, measured by scale devised by Scheuer et al, or the measurement of the hepatic iron. The C282Y mutation was found in 64 to 100% of patients; eventually, subjects with hepatic iron overload identical to hereditary hemochromatosis has no mutation, and homozygous for the C282Y mutation do not express iron overload. Iron is best and quickly removed by weekly or twice-weekly phlebotomy of 500 ml, containing approximately 250 mg iron. One to 3 years of weekly phlebotomy may be required to reduce stores to normal. As a guide to long-term maintenance therapy, is recommended phlebotomy every 3 months and the serum ferritin level should be maintained by less than 50 ng/ml.
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PMID:[Hereditary hemochromatosis]. 1217 Feb 86


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