Hereditary CTD
What is the scoring system for measuring hypermobility?
Beighton scale
What deformities are common in rheumatoid arthritis?
Swan neck deformity, ulnar deviation of the fingers at MCP joints, Boutonnière deformity
Which DMARDs can be used in pregnancy?
hydroxychloroquine and sulfasalazine
How are ANA test results reported?
Two parts
1. Titer of the antibodies
2. staining pattern produced
PMR, giant cell arteritis- tx is high dose steroids
What are hallmark symptoms of epidermolysis bullosa? What are common complications?
Blisters, erosions, non healing ulceration, scarring following minor trauma
Infection and sepsis, skin cancer, malnutrition, anemia
What is the classic presentation triad in lupus? What medications should be started if any disease activity is present?
fever, arthritis, rash
Hydroxychloroquine, NSAID, corticosteroids. Consider azathioprine for aggressive disease
What should be given with the first line treatment for RA to decrease risk of myelosuppression and hepatotoxicity?
Which lab is positive in spondyloarthritides, especially ankylosing spondylitis?
HLA-B27
A 30 yom presents with lower back pain and stiffness. He reports NSAIDs are very helpful, but only temporarily. What tests will you perform for suspected ankylosing spondylitis? What would you expect to see on X-ray?
occiput to wall test, schober test, labs including HLA-B27
bamboo spine on XR
What is the inheritance pattern of osteogenesis imperfecta? What are key clinical manifestations?
autosomal dominant;
short stature, bone deformities, recurrent fractures, low-impact fractures with minimal trauma
blue-ish gray sclera, dentinogenesis imperfecta
What is the CREST acronym for limited cutaneous scleroderma? What autoantibody will be present?
Calcinosis, Raynaud's, Esophageal dysfunction, Sclerodactyly, Telangiectasias
Anticentromere
What are the side effects of hydroxychloroquine?
ocular (retinal) toxicity, QT prolongation
Which three antibodies may be positive in scleroderma?
anti-scl-70, anti-centromere- anti-RNA plolymerase III
Your patient presents with nodules on their fingers near the DIP and PIP joints. What are your differentials? What causes each?
What are some clinical manifestations of Marfan's syndrome other than skeletal findings?
mitral valve prolapse, ectopia lentis, pulmonary disease, aortic disease
What skin findings can be seen in dermatomyositis? Describe them
Gottron papules- symmetric, violaceous papules over bony prominences of hands
Heliotrope eruption- periorbital rash
Photodistributed poikiloderma/shawl sign- rash/hyperpigmentation on chest/back, neck
What is the MOA of Abatacept (Orencia)? what are the side effects?
inhibits T cell activation by binding to receptors on APCs. Side effects include headache, infections, infusion reactions
What two auto-antibodies are highly specific in Lupus? Which may be positive in drug induced lupus?
anti-double stranded DNA, anti-smith; anti-histone
Your patient has known systemic sclerosis and presents with urinary frequency, flank pain, and headaches. What are you concerned for? What is the treatment?
Scleroderma renal crisis- start ACE-I at first suspicion
What is the primary cause of morbidity and mortality in Marfan's syndrome? What medication classes should be avoided due to their increased risk of this complication?
aortic disease; CCBs, fluoroquinolones
What lab will be abnormal in Mixed Connective Tissue Disease? What is a very common comorbidity?
What is a targeted synthetic DMARD? What is its MOA?
Tofacitinib (Xeljanz)- Kinase inhibitors preventing specific kinases from signaling cytokine inflammatory activity
C3; C4
Mandy presents with complaint of being tall and long limbed. She is concerned for Marfan syndrome and aortic issues. What gene is mutated? What screening exam should you perform?
fibrillin 1 gene (FBN1); perform screening CT or MRI