Clinical Genetics in Rheumatology

  • Ruth Fernandez-RuizEmail author
  • Petros Efthimiou


Genetic testing has become an important tool in diagnosing monogenic disorders, particularly after the widespread availability of next-generation sequencing technologies in commercial laboratories. In rheumatology, hereditary diseases often present early in childhood, but adult-onset genetic disorders are also seen. The monogenic autoinflammatory syndromes (MAIS) and heritable disorders of connective tissue (HDCT) are two heterogeneous groups of conditions that are seen in rheumatology practice and largely depend on genetic testing for an accurate diagnosis. MAIS are a group of diseases characterized by recurrent and spontaneous episodes of inflammation, including fever, arthritis, and serositis, with long-term serious complications such as AA amyloidosis if untreated. HDCT are a heterogeneous group of diseases characterized by defects in several extracellular matrix elements, producing clinically obvious changes in the skeleton, skin, ligaments, tendons, and other soft tissues. This chapter presents an overview of terminology in clinical genetics, the regulations and advantages of genetic testing in rheumatology, and a review of the most common MAIS and HDCT.


Autoinflammatory syndrome Genetic testing Connective tissue Ehlers-Danlos syndrome Marfan syndrome Osteogenesis imperfecta 


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Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Division of Rheumatology, Department of MedicineNYU Langone HealthNew YorkUSA

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