Sjogren syndrome

Sjögren syndrome is an autoimmune disorder characterized by the immune system attacking glands that produce tears and saliva, leading to hallmark symptoms of dry mouth (xerostomia) and dry eyes (keratoconjunctivitis sicca). It is associated with rheumatic disorders such as rheumatoid arthritis and systemic lupus erythematosus. The condition has an autosomal recessive inheritance pattern, meaning that both copies of the gene in each cell have mutations. Although no specific genes have been identified, the clinical features can significantly impact quality of life, affecting not only the salivary and lacrimal glands but potentially other organs such as the kidneys and lungs.

The primary clinical features of Sjögren syndrome include dry eyes (80-99% prevalence) and dry mouth (80-99%). Other common symptoms include positivity for specific antibodies (Anti-La/SS-B and Anti-Ro/SS-A, both 30-79%), skin rash, and arthralgia. Additionally, patients may experience tubulointerstitial nephritis and elevated levels of circulating C-reactive protein and globulin. These symptoms can vary in severity and may affect multiple body systems.

The documentation surrounding Sjögren syndrome is limited due to its relatively low prevalence, affecting 1-5 in 10,000 individuals. This rarity restricts the scope of systematic clinical studies, making it challenging to gather comprehensive data. Furthermore, the genetic basis of the condition remains unidentified, complicating the understanding of its pathophysiology and management.

Currently, there are 40 active clinical trials focused on Sjögren syndrome, exploring various aspects of the condition and potential treatments. While there are no orphan drug designations, these trials represent a significant opportunity for patients to participate in research that may lead to new therapeutic options. You can find more information about ongoing studies at ClinicalTrials.gov using the following link: https://clinicaltrials.gov/search?cond=Sjogren%20syndrome.