1. Good Morning ! October 3 rd, 2011

2.  An overlap syndrome associated with anti-U1-RNP (ribonucleic protein) antibodies with features of SLE, scleroderma, and polymyositis  In early stages, cannot be differentiated from the other connective tissue diseases (SLE, Scl, PM, DM, RA, and Sjogren’s)

4.  Early symptoms › Easy fatigability › Poorly defined myalgias › Arthralgias › Raynaud phenomenon

5.  For patients with high RNP antibodies: › Seldom develop glomerulonephritis, cerebritis, psychosis, or seizures › Nearly always have development of Raynaud phenomenon › More likely to develop pulmonary hypertension › More likely to be RF positive (in 70%) and develop erosive arthritis

6.  4 features that suggest MCTD rather than another disorder: › Raynaud and swollen hands › Absence of renal and CNS disease › More severe arthritis › PHTN › RNP antibodies  More common in women (16:1)  Present in 2 nd or 3 rd decade

7.  Skin manifestations › Discoid plaques and malar rash  Fever of unknown origin  Arthritis is severe

8.  Myositis and myalgia  Cardiac disease › RVH › Right atrial enlargement › Conduction defects › Pericarditis (10 to 30%)

9.  Pulmonary involvement (75%) › Effusions › PHTN  Screen for with echo › Interstitial lung disease (30 to 50%)  See septal thickening, ground-glass opacities, nonseptal linear opacities, and lower lobe predominance on CT scan › Infections › Vasculitis

11.  Absence of severe renal disease › High titers of RNP antibodies may be protective  GI involvement in 60 to 80% › Hypomotility › Serositis › Mesenteric vasculitis › Pancreatitis  CNS › Trigeminal neuropathy › Headaches

12.  Low grade anemia  Leukopenia  Hypergammaglobulinemia  RF positive  Anti-cyclic citrullinated peptide (CCP) antibodies  + ANA  RNP antibodies

13.  Thought to be incurable  Some features are responsive to glucocorticoids  Antimalrials or methotrexate should be used in patients requiring repeated or ongoing steroids  Treat specific features (NSAIDS for arthritis, etc.)

14.  Mortality is 16 to 18% at 10 to 12 years  Major cause of death is progressive pulmonary hypertension