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SP0134 Heritable Collagen Disorders
  1. F. Malfait
  1. Center for Medical Genetics, Ghent University, Ghent, Belgium

Abstract

Heritable collagen disorders, such as osteogenesis imperfecta (OI) and the Ehlers-Danlos syndromes, encompass a clinically and genetically heterogeneous group of Mendelian syndromes that manifest with overlapping clinical findings, especially involving the musculoskeletal, but also the cardiovascular, ophthalmologic, auditory and cutaneous systems. For many patients affected by these disorders, the musculoskeletal problems predominate the clinical picture, and often lead to a reduced quality of life. In general, there is a lack of evidence-based approaches for the treatment of these problems.

Current management of patients with OI, a condition mainly characterized by a variable degree of bone fragility with recurrent bone fractures, relies on a multidisciplinary approach with rehabilitation, orthopedic surgery, and consideration of bisphosphonates treatment. The Ehlers-Danlos syndromes comprise a very heterogeneous group of heritable connective tissue disorders, primarily characterized by joint hyperlaxity, skin hyperextensibility and soft connective tissue fragility. Joint hyperlaxity, which may be localized or generalized, predisposes to joint instability and recurrent dislocations. Other complaints include reduced muscle strength and proprioception, kinesiophobia and limitations in performing daily activities. Management of these problems should focus on physical therapy and assistive devices, such as braces and ringsplints, and in general, orthopedic surgery should be delayed in favor of these treatment modalities. Chronic widespread pain is a common and challenging problem for these patients, and can be both physically and psychosocially disabling. It often requires a multidisciplinary approach, including physical therapy, pain medication and cognitive behavioral therapy, tailored to the individual's need.

Disclosure of Interest None declared

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