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hemochromatosis arthropathy

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https://www.readbyqxmd.com/read/26197713/-hemochromatosis
#1
REVIEW
B Oppl, J Zwerina
Hereditary hemochromatosis is a frequent autosomal recessive iron storage disease in northern and western Europe. The classical clinical triad of liver cirrhosis, hyperpigmentation and diabetes is nowadays rare, most probably because of early recognition. The homozygous C282Y mutation in the HFE gene is responsible for most cases of hereditary hemochromatosis, although other much rarer mutations in other genes have been recently identified. Progressive iron overload not only causes liver cirrhosis but also triggers development of a characteristic arthropathy...
September 2015: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/25897098/the-detrimental-effects-of-iron-on-the-joint-a-comparison-between-haemochromatosis-and-haemophilia
#2
REVIEW
Lize F D van Vulpen, Goris Roosendaal, B Sweder van Asbeck, Simon C Mastbergen, Floris P J G Lafeber, Roger E G Schutgens
Joint damage due to (recurrent) joint bleeding in haemophilia causes major morbidity. Although the exact pathogenesis has not been fully elucidated, a central role for iron is hypothesised. Likewise, in hereditary haemochromatosis joint destruction is caused by iron overload. A comparison between these types of arthropathy could provide more insight in the influence of iron in inducing joint damage. A literature review was performed to compare both disorders with respect to their clinical and histological characteristics, and preclinical studies on the influence of iron on different joint components were reviewed...
August 2015: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/25822977/effect-of-c282y-genotype-on-self-reported-musculoskeletal-complications-in-hereditary-hemochromatosis
#3
António Camacho, Thomas Funck-Brentano, Márcio Simão, Leonor Cancela, Sébastien Ottaviani, Martine Cohen-Solal, Pascal Richette
OBJECTIVE: Arthropathy that mimics osteoarthritis (OA) and osteoporosis (OP) is considered a complication of hereditary hemochromatosis (HH). We have limited data comparing OA and OP prevalence among HH patients with different hemochromatosis type 1 (HFE) genotypes. We investigated the prevalence of OA and OP in patients with HH by C282Y homozygosity and compound heterozygosity (C282Y/H63D) genotype. METHODS: A total of 306 patients with HH completed a questionnaire...
2015: PloS One
https://www.readbyqxmd.com/read/25654085/hfe-genotyping-in-patients-with-elevated-serum-iron-indices-and-liver-diseases
#4
Andreia Silva Evangelista, Maria Cristina Nakhle, Thiago Ferreira de Araújo, Clarice Pires Abrantes-Lemos, Marta Mitiko Deguti, Flair José Carrilho, Eduardo Luiz Rachid Cançado
Iron abnormalities in chronic liver disease may be the result of genetic diseases or secondary factors. The present study aimed to identify subjects with HFE-HH in order to describe the frequency of clinical manifestations, identify risk factors for iron elevation, and compare the iron profile of HFE-HH to other genotypes in liver disease patients. A total of 108 individuals with hepatic disease, transferrin saturation (TS) > 45%, and serum ferritin (SF) > 350 ng/mL were tested for HFE mutations. Two groups were characterized: C282Y/C282Y or C282Y/H63D genotypes (n = 16) were the HFE hereditary hemochromatosis (HFE-HH) group; and C282Y and H63D single heterozygotes, the H63D/H63D genotype, and wild-type were considered group 2 (n = 92)...
2015: BioMed Research International
https://www.readbyqxmd.com/read/24895535/treatment-of-nongout-joint-deposition-diseases-an-update
#5
REVIEW
Tristan Pascart, Pascal Richette, René-Marc Flipo
This update develops the actual therapeutic options in the management of the joint involvement of calcium pyrophosphate deposition disease (CPPD), basic calcium phosphate (BCP) deposition disease, hemochromatosis (HH), ochronosis, oxalosis, and Wilson's disease. Conventional pharmaceutical treatment provides benefits for most diseases. Anti-interleukine-1 (IL-1) treatment could provide similar results in CPPD than in gout flares. There is only limited evidence about the efficacy of preventive long-term colchicine intake, methotrexate, and hydroxychloroquine in chronic CPPD...
2014: Arthritis
https://www.readbyqxmd.com/read/24878794/hemochromatosis-simulating-rheumatoid-arthritis-a-case-report
#6
Fabíola Brasil Barbosa, Amanda Callegari, José Célso Sarinho, Juliana Lucena, Renielly Casagrande, Branca Dias Batista de Souza
This is a report of a patient who had a previous diagnosis of rheumatoid arthritis, nonerosive, rheumatoid factor negative, that despite the therapeutic approach presented progressive worsening of the articular and general condition. After extensive research, she had a diagnosis of hemochromatosis. Joint symptoms are common manifestations in hemochromatosis. The arthropathy of hemochromatosis may resemble inflammatory arthropathy mimicking RA, particularly in the most common sites as 2nd and 3rd metacarpophalangeal...
January 2014: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/24823213/total-shoulder-arthroplasty-for-the-arthropathy-of-hemochromatosis-a-case-report
#7
EDITORIAL
J A Rand, F H Sim
Hemochromatosis presentingwithonly the manifestations of arthropathy is unusual. Although severe joint involvement by hemochromatosis, leading to total joint arthroplasty in the lower extremities, has been previously reported, involvement of the shoulder has been noted infrequently. We describe a patient with severe arthropathy of hemochromatosis requiring total shoulder arthroplasty and review the orthopedic implications of hemochromatosis. Key words: Arthropathy; Hemochromatosis; Total shoulder arthroplasty...
June 1, 1981: Orthopedics
https://www.readbyqxmd.com/read/24811359/-chondrocalcinosis-due-to-calcium-pyrophosphate-deposition-cppd-from-incidental-radiographic-findings-to-cppd-crystal-arthritis
#8
REVIEW
A-K Tausche, M Aringer
If acute arthritis occurs in the elderly in addition to typical degenerative, load-related joint complaints, this is often induced by crystal deposition. The crystals lead to activation of the immune system resulting in acute inflammation. In addition to gout, calcium pyrophosphate deposition (CPPD) disease in particular must also be taken into consideration. Diagnostically important are imaging techniques, e.g. early specific alterations of cartilage can be shown by joint sonography and later calcium pyrophosphate crystals can be detected as cartilage calcification (chondrocalcinosis) by radiography...
May 2014: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/24703342/epidemiology-of-calcium-pyrophosphate-crystal-arthritis-and-basic-calcium-phosphate-crystal-arthropathy
#9
REVIEW
Abhishek Abhishek, Michael Doherty
Calcium pyrophosphate crystal deposition (CPPD) is common and mainly associates with increasing age and osteoarthritis (OA). Recent studies suggest that CPPD occurs as the result of a generalized articular predisposition and may also associate with low cortical bone mineral density. The epidemiology of basic calcium phosphate (BCP) crystal deposition is poorly understood. Although periarticular BCP crystal deposits occurs at all ages and in both sexes, intra-articular BCP crystal deposition tends to associate with increasing age and OA...
May 2014: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/24319245/hemochromatosis-the-new-blood-donor
#10
REVIEW
Susan F Leitman
Hereditary hemochromatosis (HH) due to homozygosity for the C282Y mutation in the HFE gene is a common inherited iron overload disorder in whites of northern European descent. Hepcidin deficiency, the hallmark of the disorder, leads to dysregulated intestinal iron absorption and progressive iron deposition in the liver, heart, skin, endocrine glands, and joints. Survival is normal if organ damage is prevented by early institution of phlebotomy therapy. HH arthropathy is the symptom most affecting quality of life and can be debilitating...
2013: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/24264720/hfe-related-hemochromatosis-an-update-for-the-rheumatologist
#11
REVIEW
Emma Husar-Memmer, Andreas Stadlmayr, Christian Datz, Jochen Zwerina
Hereditary hemochromatosis is a frequent disease in Caucasian populations. It leads to progressive iron overload in a variety of organs. The most common cause is the C282Y homozygous mutation in the HFE gene. The classical triad of skin hyperpigmentation, diabetes, and liver cirrhosis is nowadays rare but musculoskeletal symptoms are common in HFE-related hemochromatosis. Typically the second and third metacarpophalangeal joints, and the wrist, hip, and ankle joints are affected. Clinical symptoms include osteoarthritis-like symptoms, pseudogout attacks, and synovitis sometimes resembling rheumatoid arthritis...
January 2014: Current Rheumatology Reports
https://www.readbyqxmd.com/read/23990522/diabetes-in-first-degree-family-members-a-predictor-of-type-2-diabetes-in-159-nonscreening-alabama-hemochromatosis-probands-with-hfe-c282y-homozygosity
#12
James C Barton, J Clayborn Barton, Ronald T Acton
OBJECTIVE We sought to identify predictors of diabetes diagnosed before hemochromatosis. RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis probands with HFE C282Y homozygosity: age; sex; BMI; diabetes reports in first-degree family members (dichotomous); heavy ethanol consumption; cigarette smoking; elevated serum alanine aminotransferase/aspartate aminotransferase levels; nonalcoholic fatty liver; chronic viral hepatitis; cirrhosis; hand arthropathy; iron removed by phlebotomy; and positivity for HLA-A*01, B*08; A*03, B*07; and A*03, B*14 haplotypes...
2014: Diabetes Care
https://www.readbyqxmd.com/read/23599437/vcam-1-serum-levels-are-associated-with-arthropathy-in-hereditary-haemochromatosis
#13
Valerie Nell-Duxneuner, Roland Axmann, Emma Husar-Memmer, Tomás Dallos, Christian Datz, Andreas Stadlmayr, Elmar Aigner, Matthias Englbrecht, Georg Schett, Jochen Zwerina
OBJECTIVES: The aim of this study was to assess the role of vascular adhesion molecule 1 (VCAM-1) in patients with hereditary haemochromatosis (HH) with or without arthropathy. METHODS: Sera from a large cross-sectional cohort of unselected HH patients (n=147) were obtained and compared to an age-matched and sex-matched control group. Serum levels of VCAM-1 were measured by ELISA and were correlated with clinical measures. RESULTS: VCAM-1 serum levels were elevated in HH patients as compared to matched controls (mean 913±456 vs 654±451 ng/ml, p<0...
December 2013: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/23566434/-hereditary-hemochromatosis-presenting-manifestations-and-diagnostic-delay
#14
B Gasser, F Courtois, S Hojjat-Assari, E A Sauleau, C Buffet, P Brissot
PURPOSE: Hereditary hemochromatosis is characterized by an excessive absorption and progressive accumulation of iron in the liver, the pancreas, the heart, and the joints. Tiredness and joint manifestations occur usually before hepatopathy, diabetes or cardiopathy. Such common and unspecific symptoms seem to be largely unknown and important diagnostic delays have been reported. The aim of this study was to investigate the discovery circumstances and the diagnostic delay. METHODS: A survey was carried out amongst French patients with C282Y homozygous hemochromatosis who were contacted through patients associations or blood centers...
March 2014: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/23491383/-calcium-pyrophosphate-dihydrate-deposition-disease
#15
Beyeler
Calcium Pyrophosphate Dihydrate (CPPD) crystals deposit in articular fibro- or hyaline cartilage (chondrocalcinosis), joint capsules, synovium, periarticular ligaments and tendons resulting in an age de-pendent prevalence. These calcifications may be asymptomatic or may manifest as acute pseudogout arthritis, pseudorheumatoid arthritis, bursitis, tenosynovitis, tendinitis, polymyalgic syndrome or chronic pyrophosphate arthropathy. The diagnosis is based on the presence of intracellular CPPD crystals in synovial fluid detected by polarizing microscopy, the characteristic radiological changes and the typical clinical presentations...
October 1, 2002: Therapeutische Umschau. Revue Thérapeutique
https://www.readbyqxmd.com/read/23400769/erosive-and-inflammatory-joint-changes-in-hereditary-hemochromatosis-arthropathy-detected-by-low-field-magnetic-resonance-imaging
#16
Katja Frenzen, Christoph Schäfer, Gernot Keyßer
The aim of the article is to describe and characterize the hemochromatosis arthropathy of the hand by low-field MRI in symptomatic and asymptomatic patients. Forty-nine patients with hereditary hemochromatosis (37 with and twelve without arthropathy) were examined clinically and by low-field MRI of the hands. The examination showed heterogeneous degenerative and inflammatory joint changes such as erosions (in 84% of all symptomatic patients), synovitis (77%), bone marrow edema (38%), subchondral cysts (30%), tenosynovitis (30%), joint space narrowing (73%) and osteophytes (59%) including hook-shaped osteophytes at MCP joints (32%)...
August 2013: Rheumatology International
https://www.readbyqxmd.com/read/23315789/idiopathic-hand-osteoarthritis-vs-haemochromatosis-arthropathy-a-clinical-functional-and-radiographic-study
#17
MULTICENTER STUDY
Tomás Dallos, Enijad Sahinbegovic, Tanja Stamm, Elmar Aigner, Roland Axmann, Andreas Stadlmayr, Matthias Englbrecht, Christian Datz, Georg Schett, Jochen Zwerina
OBJECTIVE: Haemochromatosis arthropathy is a secondary OA and the most frequent and earliest clinical presentation of hereditary haemochromatosis (HH). The aim of this study was to perform a direct clinical, functional and radiographic comparison with idiopathic hand OA (HOA) to unravel important differences between these clinical entities. METHODS: In total, 299 patients (141 with HH arthropathy of the hands and 158 patients with idiopathic HOA) were recruited...
May 2013: Rheumatology
https://www.readbyqxmd.com/read/23139229/increased-risk-of-arthropathies-and-joint-replacement-surgery-in-patients-with-genetic-hemochromatosis-a-study-of-3-531-patients-and-their-11-794-first-degree-relatives
#18
Maria Elmberg, Rolf Hultcrantz, Julia F Simard, Åke Carlsson, Johan Askling
OBJECTIVE: Genetic hemochromatosis (GH) is an autosomal recessive disease in individuals of Northern and Western European descent. Heterozygosity for the C282Y mutation is common (6-20%). Arthropathy is one of the few complications of GH suggested not to be associated with iron body stores; synovial iron deposition remains in iron-depleted patients. Previous studies suggest an elevated prevalence of clinical and radiographic signs of arthropathy in patients with GH, and 2 smaller studies suggest a possibly elevated risk of joint replacement surgery, but more mixed results are shown regarding risks with HFE genotype...
May 2013: Arthritis Care & Research
https://www.readbyqxmd.com/read/23069304/progressive-pigmented-purpuric-dermatitis-and-alopecia-areata-as-unusual-skin-manifestations-in-recognizing-hereditary-hemochromatosis
#19
Vesna Sredoja Tišma, Stela Bulimbašić, Morana Jaganjac, Marica Stjepandić, Miljana Larma
Hereditary hemochromatosis (HHC) is a common genetic disorder of iron overload, caused by mutations in the HFE gene. If untreated, abnormal accumulation of iron may lead to organ damage and premature death. Significant changes in the symptomatology of HHC have been observed in recent years, and its full clinical expression is rarely seen. The disorder presents a large phenotypic heterogeneity. We report a case of newly identified HHC in a 56-year-old man presenting as pigmented purpuric dermatitis and alopecia areata affecting the beard, accompanied with elevated liver enzymes and elevated serum ferritin level on screening chemistry panels...
2012: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/22198888/-rheumatic-manifestations-of-genetic-hemochromatosis
#20
REVIEW
Dalila Mrabet, Imen Zouch, Hela Sahli, Leila Fendri, Elheme Cheour, Nihel Meddeb, Slaheddine Sellami
BACKGROUND: Rheumatic manifestations of genetic hemochromatosis are frequent with axial or peripheral arthropathies (mono-, oligo- or polyarticular). These manifestations are characterized by articular damage and osteoporosis. AIM: To review the rheumatic manifestations of genetic hemochromatosis. METHODS: A narrative review of literature. RESULTS: The diagnosis should be brought to mind when we discover arthropathy resembling degenerative joint disease with involvement of unusual articular sites, almost identical to the arthropathy in calcium pyrophosphate dihydrate crystals deposition disease (chondrocalcinosis)...
December 2011: La Tunisie Médicale
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