Musculoskeletal Manifestations in Patients Diagnosed with Marfan Syndrome

Laura Mas Sánchez¹, JOSE ELOY OLLER RODRIGUEZ², Elena Grau García³, Carmen Riesco Barcena⁴, SAMUEL LEAL⁵, Marta de la Rubia navarro⁶, Anderson Huaylla Quispe⁷, Pablo Muñoz Martínez⁸, Alba Torrat noves⁹, Daniel Ramos Castro¹⁰, Iago Alcantara Alvarez¹¹, Belén Villanueva Mañés¹¹, Miguel Simeo Vinaixa¹², Andrés Pérez Hurtado¹³ and Jose A Román-Ivorra¹⁴, ¹Resident at Hospital Universitari i Politecnic La Fe, Valéncia, Spain, ²HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE, VALENCIA, Spain, ³HUP La Fe, Valencia, Spain, ⁴Hospital Universitario i Politecnic La Fe (Valencia-Spain), Valéncia, Spain, ⁵Hospital La Fe, Valencia, Spain, ⁶Rheumatology department, Hospital La Fe, Valéncia, Spain, ⁷Medicina, Valéncia, Spain, ⁸Hospital Universitario y Politècnico La Fe, Sagunto, Spain, ⁹Hospital Universitari i Politècnic La Fe de Valencia, Valencia, Comunidad Valenciana, Spain, ¹⁰Hospital Universitario y Politècnico La Fe, Valencia, Spain, ¹¹Rheumatology Department. HUP La Fe, Valencia, Comunidad Valenciana, Spain, ¹²Hospital Universitari i Politecnic La Fe, Valencia, Spain, ¹³Rheumatology Department. HUP La Fe, Valencia, Spain, ¹⁴Hospital Universitari i Politècnic la Fe, Valencia, Comunidad Valenciana, Spain

Meeting: ACR Convergence 2024

Keywords: cartilage, Collagen-Induced Arthritis, Eye Disorders, Heart disease, osteoporosis

Session Information

Date: Saturday, November 16, 2024

Title: Miscellaneous Rheumatic & Inflammatory Diseases Poster I

Session Type: Poster Session A

Session Time: 10:30AM-12:30PM

Background/Purpose: There is limited information about musculoskeletal involvement in Marfan syndrome (MS), especially concerning bone metabolism.

Methods: We conducted a retrospective and descriptive study of patients diagnosed with Marfan Syndrome (according to Ghent Criteria) followed in Rheumatology since 2012, collecting demographic, clinical, analytical, and densitometric data.

Results: A total of 65 patients were included (52.3% women) with a mean age of 39 (16) years. Genetically confirmed diagnosis was present in 48 cases, with 3 of them as index cases, and the FBN1 gene was the most frequently affected (93.8%).

Eighty percent of patients had musculoskeletal involvement (see Table 1), with a history of fractures in 4.6% of patients. About 40% of the performed densitometries showed values in the Osteoporosis range. We observed a tendency for patients with decreased densitometry values to have a higher proportion of aortic dilation (P=0.053) and thoracic wall involvement (P=0.059). Elevated levels of autoantibodies were found in 11 patients.

Furthermore, a statistically significant association was observed between the presence of aortic dilation and abnormalities of the thoracic wall (P=0.027) and the presence of cardiopathy (P< 0.001). There was also a tendency to have greater demineralization of the lumbar spine in patients with cardiopathy, aortic dilation, and thoracic wall abnormalities, with the latter being more frequently observed in male patients.

Conclusion: Up to 80% of MS patients presented musculoskeletal manifestations, and 40% showed densitometry values in the osteoporosis range. An association was observed between findings of thoracic wall deformities and the presence of aortic dilation. There was also a tendency to have greater demineralization of the lumbar spine in patients with aortic dilation and thoracic wall abnormalities.

Table 1. Clinical manifestations in Marfan Syndrome.

Disclosures: L. Mas Sánchez: None; J. OLLER RODRIGUEZ: None; E. Grau García: None; C. Riesco Barcena: None; S. LEAL: None; M. de la Rubia navarro: None; A. Huaylla Quispe: None; P. Muñoz Martínez: None; A. Torrat noves: None; D. Ramos Castro: None; I. Alcantara Alvarez: None; B. Villanueva Mañés: None; M. Simeo Vinaixa: None; A. Pérez Hurtado: None; J. Román-Ivorra: None.

To cite this abstract in AMA style:

Mas Sánchez L, OLLER RODRIGUEZ J, Grau García E, Riesco Barcena C, LEAL S, de la Rubia navarro M, Huaylla Quispe A, Muñoz Martínez P, Torrat noves A, Ramos Castro D, Alcantara Alvarez I, Villanueva Mañés B, Simeo Vinaixa M, Pérez Hurtado A, Román-Ivorra J. Musculoskeletal Manifestations in Patients Diagnosed with Marfan Syndrome [abstract]. Arthritis Rheumatol. 2024; 76 (suppl 9). https://acrabstracts.org/abstract/musculoskeletal-manifestations-in-patients-diagnosed-with-marfan-syndrome/. Accessed .

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