Overview of Ankle Arthropathy in Hereditary Hemochromatosis
Hereditary hemochromatosis (HH) is an autosomal recessive bleeding disorder characterized by tissue overload of iron. Clinical systemic manifestations in HH include liver disease, cardiomyopathy, skin pigmentation, diabetes mellitus, erectile dysfunction, hypothyroidism, and arthropathy. Arthropathy...
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MDPI AG
2023-08-01
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| author | Sara Calori Chiara Comisi Antonio Mascio Camillo Fulchignoni Elisabetta Pataia Giulio Maccauro Tommaso Greco Carlo Perisano |
| author_facet | Sara Calori Chiara Comisi Antonio Mascio Camillo Fulchignoni Elisabetta Pataia Giulio Maccauro Tommaso Greco Carlo Perisano |
| author_sort | Sara Calori |
| collection | DOAJ |
| description | Hereditary hemochromatosis (HH) is an autosomal recessive bleeding disorder characterized by tissue overload of iron. Clinical systemic manifestations in HH include liver disease, cardiomyopathy, skin pigmentation, diabetes mellitus, erectile dysfunction, hypothyroidism, and arthropathy. Arthropathy with joint pain is frequently reported at diagnosis and mainly involves the metacarpophalangeal and ankle joints, and more rarely, the hip and knee. Symptoms in ankle joints are in most cases non-specific, and they can range from pain and swelling of the ankle to deformities and joint destruction. Furthermore, the main radiological signs do not differ from those of primary osteoarthritis (OA). Limited data are available in the literature regarding treatment; surgery seems to be the gold standard for ankle arthropathy in HH. Pharmacological treatments used to maintain iron homeostasis can also be undertaken to prevent the arthropathy, but conclusive data are not yet available. This review aimed to assess the ankle arthropathy in the context of HH, including all its aspects: epidemiology, physiopathology, clinical and imaging presentation, and all the treatments available to the current state of knowledge. |
| first_indexed | 2024-03-10T22:29:00Z |
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| institution | Directory Open Access Journal |
| issn | 2076-3271 |
| language | English |
| last_indexed | 2024-03-10T22:29:00Z |
| publishDate | 2023-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Medical Sciences |
| spelling | doaj.art-61d156b68df74da3a5572d2fa1afbf672023-11-19T11:53:45ZengMDPI AGMedical Sciences2076-32712023-08-011135110.3390/medsci11030051Overview of Ankle Arthropathy in Hereditary HemochromatosisSara Calori0Chiara Comisi1Antonio Mascio2Camillo Fulchignoni3Elisabetta Pataia4Giulio Maccauro5Tommaso Greco6Carlo Perisano7Orthopedics and Trauma Surgery Unit, Department of Aging, Orthopedic and Rheumatologic Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, ItalyOrthopedics and Trauma Surgery Unit, Department of Aging, Orthopedic and Rheumatologic Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, ItalyOrthopedics and Trauma Surgery Unit, Department of Aging, Orthopedic and Rheumatologic Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, ItalyOrthopedics and Trauma Surgery Unit, Department of Aging, Orthopedic and Rheumatologic Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, ItalyOrthopedics and Trauma Surgery Unit, Department of Aging, Orthopedic and Rheumatologic Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, ItalyOrthopedics and Trauma Surgery Unit, Department of Aging, Orthopedic and Rheumatologic Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, ItalyOrthopedics and Trauma Surgery Unit, Department of Aging, Orthopedic and Rheumatologic Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, ItalyOrthopedics and Trauma Surgery Unit, Department of Aging, Orthopedic and Rheumatologic Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, ItalyHereditary hemochromatosis (HH) is an autosomal recessive bleeding disorder characterized by tissue overload of iron. Clinical systemic manifestations in HH include liver disease, cardiomyopathy, skin pigmentation, diabetes mellitus, erectile dysfunction, hypothyroidism, and arthropathy. Arthropathy with joint pain is frequently reported at diagnosis and mainly involves the metacarpophalangeal and ankle joints, and more rarely, the hip and knee. Symptoms in ankle joints are in most cases non-specific, and they can range from pain and swelling of the ankle to deformities and joint destruction. Furthermore, the main radiological signs do not differ from those of primary osteoarthritis (OA). Limited data are available in the literature regarding treatment; surgery seems to be the gold standard for ankle arthropathy in HH. Pharmacological treatments used to maintain iron homeostasis can also be undertaken to prevent the arthropathy, but conclusive data are not yet available. This review aimed to assess the ankle arthropathy in the context of HH, including all its aspects: epidemiology, physiopathology, clinical and imaging presentation, and all the treatments available to the current state of knowledge.https://www.mdpi.com/2076-3271/11/3/51ankle jointfoot diseasehemochromatosisarthropathytotal ankle arthroplastyankle arthrodesis |
| spellingShingle | Sara Calori Chiara Comisi Antonio Mascio Camillo Fulchignoni Elisabetta Pataia Giulio Maccauro Tommaso Greco Carlo Perisano Overview of Ankle Arthropathy in Hereditary Hemochromatosis Medical Sciences ankle joint foot disease hemochromatosis arthropathy total ankle arthroplasty ankle arthrodesis |
| title | Overview of Ankle Arthropathy in Hereditary Hemochromatosis |
| title_full | Overview of Ankle Arthropathy in Hereditary Hemochromatosis |
| title_fullStr | Overview of Ankle Arthropathy in Hereditary Hemochromatosis |
| title_full_unstemmed | Overview of Ankle Arthropathy in Hereditary Hemochromatosis |
| title_short | Overview of Ankle Arthropathy in Hereditary Hemochromatosis |
| title_sort | overview of ankle arthropathy in hereditary hemochromatosis |
| topic | ankle joint foot disease hemochromatosis arthropathy total ankle arthroplasty ankle arthrodesis |
| url | https://www.mdpi.com/2076-3271/11/3/51 |
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