A rare association: Ankylosing spondylitis and a genetic disease

Abstract

Ankylosing spondylitis (AS) is a chronic systemic inflammatory disease that affects the axial skeleton and sometimes the peripheral joints, leading to the development of bone bridges and ankyloses with impaired joint mobility and quality of life. The HLA B27 antigen, which occurs in approximately 97% of patients, is an important risk factor and also a diagnostic element to consider. The typical onset of the disease is in the 3rd-4th decade of life; juvenile onset of AS under 16 years is associated with the predominant involvement of peripheral joints and multiple complications (coxitis, acute anterior uveitis) which influence the evolution of the disease under treatment being related with a negative prognosis. Noonan syndrome is a genetic disease with dominant autosomal transmission characterized by a small stature and other phenotypic features associated with congenital heart defects, especially pulmonary stenosis and atrial septal defect. Multiple genes within the RAS subfamily involved in various cellular signaling pathways such as signal transmission via mitogen-activated protein kinases are responsible for the occurrence of the disorder. Different hematological diseases such as myeloproliferative syndrome and neoplastic disease, particularly affecting the lung, may be correlated with Noonan syndrome. We present the case of a young patient with juvenile onset AS and Crohn’s disease who has Noonan syndrome with operated pulmonary stenosis and septal atrial defect, the association of these diseases bringing together cumulative complications that required multiple therapies and surgical interventions with strict monitoring.