Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.
<h4>Background</h4>Severe osteoarthritis and thoracic aortic aneurysms have recently been associated with mutations in the SMAD3 gene, but the full clinical spectrum is incompletely defined.<h4>Methods</h4>All SMAD3 gene mutation carriers coming to our centre and their famili...
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2014
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oai:doaj.org-article:b258039fa84e4152889b19fb875948812021-11-18T08:20:25ZEarly-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.1932-620310.1371/journal.pone.0096387https://doaj.org/article/b258039fa84e4152889b19fb875948812014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24804794/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Severe osteoarthritis and thoracic aortic aneurysms have recently been associated with mutations in the SMAD3 gene, but the full clinical spectrum is incompletely defined.<h4>Methods</h4>All SMAD3 gene mutation carriers coming to our centre and their families were investigated prospectively with a structured panel including standardized clinical workup, blood tests, total body computed tomography, joint X-rays. Electroneuromyography was performed in selected cases.<h4>Results</h4>Thirty-four SMAD3 gene mutation carriers coming to our centre were identified and 16 relatives were considered affected because of aortic surgery or sudden death (total 50 subjects). Aortic disease was present in 72%, complicated with aortic dissection, surgery or sudden death in 56% at a mean age of 45 years. Aneurysm or tortuosity of the neck arteries was present in 78%, other arteries were affected in 44%, including dissection of coronary artery. Overall, 95% of mutation carriers displayed either aortic or extra-aortic arterial disease. Acrocyanosis was also present in the majority of patients. Osteoarticular manifestations were recorded in all patients. Joint involvement could be severe requiring surgery in young patients, of unusual localization such as tarsus or shoulder, or mimicking crystalline arthropathy with fibrocartilage calcifications. Sixty eight percent of patients displayed neurological symptoms, and 9 suffered peripheral neuropathy. Electroneuromyography revealed an axonal motor and sensory neuropathy in 3 different families, very evocative of type II Charcot-Marie-Tooth (CMT2) disease, although none had mutations in the known CMT2 genes. Autoimmune features including Sjogren's disease, rheumatoid arthritis, Hashimoto's disease, or isolated autoantibodies- were found in 36% of patients.<h4>Interpretation</h4>SMAD3 gene mutations are associated with aortic dilatation and osteoarthritis, but also autoimmunity and peripheral neuropathy which mimics type II Charcot-Marie-Tooth.Mélodie AubartDelphine GobertFleur Aubart-CohenDelphine DetaintNadine HannaHyacintha d'IndyaJanine-Sophie LequintrecPhilippe RenardAnne-Marie VigneronPhilippe DieudéJean-Pierre LaissyPierre KochChristine MutiJoelle RoumeVeronica CusinBernard GrandchampLaurent GouyaEric LeGuernThomas PapoCatherine BoileauGuillaume JondeauPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 5, p e96387 (2014) |
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Medicine R Science Q |
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Medicine R Science Q Mélodie Aubart Delphine Gobert Fleur Aubart-Cohen Delphine Detaint Nadine Hanna Hyacintha d'Indya Janine-Sophie Lequintrec Philippe Renard Anne-Marie Vigneron Philippe Dieudé Jean-Pierre Laissy Pierre Koch Christine Muti Joelle Roume Veronica Cusin Bernard Grandchamp Laurent Gouya Eric LeGuern Thomas Papo Catherine Boileau Guillaume Jondeau Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition. |
| description |
<h4>Background</h4>Severe osteoarthritis and thoracic aortic aneurysms have recently been associated with mutations in the SMAD3 gene, but the full clinical spectrum is incompletely defined.<h4>Methods</h4>All SMAD3 gene mutation carriers coming to our centre and their families were investigated prospectively with a structured panel including standardized clinical workup, blood tests, total body computed tomography, joint X-rays. Electroneuromyography was performed in selected cases.<h4>Results</h4>Thirty-four SMAD3 gene mutation carriers coming to our centre were identified and 16 relatives were considered affected because of aortic surgery or sudden death (total 50 subjects). Aortic disease was present in 72%, complicated with aortic dissection, surgery or sudden death in 56% at a mean age of 45 years. Aneurysm or tortuosity of the neck arteries was present in 78%, other arteries were affected in 44%, including dissection of coronary artery. Overall, 95% of mutation carriers displayed either aortic or extra-aortic arterial disease. Acrocyanosis was also present in the majority of patients. Osteoarticular manifestations were recorded in all patients. Joint involvement could be severe requiring surgery in young patients, of unusual localization such as tarsus or shoulder, or mimicking crystalline arthropathy with fibrocartilage calcifications. Sixty eight percent of patients displayed neurological symptoms, and 9 suffered peripheral neuropathy. Electroneuromyography revealed an axonal motor and sensory neuropathy in 3 different families, very evocative of type II Charcot-Marie-Tooth (CMT2) disease, although none had mutations in the known CMT2 genes. Autoimmune features including Sjogren's disease, rheumatoid arthritis, Hashimoto's disease, or isolated autoantibodies- were found in 36% of patients.<h4>Interpretation</h4>SMAD3 gene mutations are associated with aortic dilatation and osteoarthritis, but also autoimmunity and peripheral neuropathy which mimics type II Charcot-Marie-Tooth. |
| format |
article |
| author |
Mélodie Aubart Delphine Gobert Fleur Aubart-Cohen Delphine Detaint Nadine Hanna Hyacintha d'Indya Janine-Sophie Lequintrec Philippe Renard Anne-Marie Vigneron Philippe Dieudé Jean-Pierre Laissy Pierre Koch Christine Muti Joelle Roume Veronica Cusin Bernard Grandchamp Laurent Gouya Eric LeGuern Thomas Papo Catherine Boileau Guillaume Jondeau |
| author_facet |
Mélodie Aubart Delphine Gobert Fleur Aubart-Cohen Delphine Detaint Nadine Hanna Hyacintha d'Indya Janine-Sophie Lequintrec Philippe Renard Anne-Marie Vigneron Philippe Dieudé Jean-Pierre Laissy Pierre Koch Christine Muti Joelle Roume Veronica Cusin Bernard Grandchamp Laurent Gouya Eric LeGuern Thomas Papo Catherine Boileau Guillaume Jondeau |
| author_sort |
Mélodie Aubart |
| title |
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition. |
| title_short |
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition. |
| title_full |
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition. |
| title_fullStr |
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition. |
| title_full_unstemmed |
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition. |
| title_sort |
early-onset osteoarthritis, charcot-marie-tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2014 |
| url |
https://doaj.org/article/b258039fa84e4152889b19fb87594881 |
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