Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders

Abstract

Abstract Hereditary connective tissue disorders include more than 200 conditions affecting different organs and tissues, compromising the biological role of the extracellular matrix through interference in the synthesis, development, or secretion of collagen and/or its associated proteins. The clinical phenotype includes multiple signs and symptoms, usually nonspecific but of interest to rheumatologists because of musculoskeletal involvement. The patient´s journey to diagnosis is long, and physicians should include these disorders in their differential diagnoses of diseases with systemic involvement. In this review, insights for the diagnosis and treatment of osteogenesis imperfecta, hypermobility spectrum disorder/Ehlers–Danlos syndrome, Marfan, Loeys–Dietz, and Stickler syndromes are presented.

Keywords

• Collagen
• Extracellular matrix
• Connective tissue disease
• Osteogenesis imperfecta
• Ehlers–Danlos syndrome
• Marfan syndrome