Identification of a new disease cluster of pemphigus vulgaris with autoimmune thyroid disease, rheumatoid arthritis and type I diabetes3. (15th February 2015)

• Record Type: Journal Article
• Authors: Parameswaran, A.; Attwood, K.; Sato, R.; Seiffert‐Sinha, K.; Sinha, A.A.
• Is Part Of: British journal of dermatology. Volume 172:Number 3(2015:Mar.)
• Page Start: 729
• Page End: 738
• Publication Date: 2015-02-15
• Subjects: Dermatology -- Periodicals; Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/bjd.13433
• Languages: English
• ISSNs: 0007-0963

Abstract

Summary: Background: Pemphigus vulgaris (PV) is a potentially fatal autoimmune blistering skin disease. It is known that individuals with autoimmune diseases such as PV, as well as their family members, are at increased risk of developing other autoimmune diseases. However, it is unknown whether there are specific autoimmune diseases that cluster with PV. Objectives: To investigate the frequency of coexisting autoimmune diseases in patients with PV and their relatives, to determine the prevalence of specific autoimmune diseases in patients with PV vs. the general population and to identify statistically significant clinical clusters linking PV with other autoimmune disorders. Methods: We performed a cross‐sectional study and meta‐analysis of patient data from our own patient database ( n = 230), an anonymous online survey conducted by our laboratory ( n = 171) and the International Pemphigus & Pemphigoid Foundation registry ( n = 393). Results: We found that the prevalences of autoimmune thyroid disease (AITD), rheumatoid arthritis and type 1 diabetes were significantly increased in patients with PV compared with the general population. These diseases were also among the most frequent in family members of patients with PV, in addition to systemic lupus erythematosus (SLE). Descriptive cluster analysis using basic principle components methods revealed that PV forms a distinct cluster with AITD, rheumatoid arthritis and type 1 diabetes, and another cluster with SLE, AITD and rheumatoid arthritis. Conclusions: PV belongs to an established autoimmune disease cluster that includes AITD, rheumatoid arthritis and type 1 diabetes. Our data suggest the possibility of common genetic elements across clinically distinct diseases that might underlie autoimmune susceptibility. Abstract : What's already known about this topic? Patients with pemphigus vulgaris (PV) and their relatives are more likely to develop concomitant autoimmune diseases. PV has been associated with a large number of autoimmune diseases in the literature. There is no consensus as to whether PV forms specific disease clusters with other autoimmune diseases. What does this study add? The prevalence of autoimmune thyroid disease (AITD), rheumatoid arthritis (RA) and type 1 diabetes is significantly increased in patients with PV. Cluster analysis of comorbid autoimmune diseases within patients with PV and family members reveals that PV forms a distinct cluster with AITD, RA and type 1 diabetes. Awareness of these disease associations may identify individuals at risk and may inform the search for common risk genes.