APPROACH TO THE RHEUMATOLOGICAL PATIENT. Catalina Orozco, MD Rheumatology Associates September 23 rd 2013
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1 APPROACH TO THE RHEUMATOLOGICAL PATIENT Catalina Orozco, MD Rheumatology Associates September 23 rd 2013
2 OUTLINE Introduction Approach to the patient with a musculoskeletal complaint Approach to the patient with a connective tissue disease Approach to the patient with vasculitis Take home messages
3 INTRODUCTION More than 100 rheumatic conditions Overlap in clinical presentations Initial presentation may not lead to a precise diagnosis in up to 50% of cases Over time most patients will have characteristic features of a disease
4 INTRODUCTION Relative Prevalence of Rheumatic Diseases 10% 5% 3% 2% 30% 50% Non articular disorders Osteoarthritis Rheumatoid arthritis Gout Connective tissue diseases Other
5 INTRODUCTION COMPLETE HISTORY COMPLETE PHYSICAL EXAM LABORATORIES IMAGING AND OTHER STUDIES
6 INTRODUCTION A DIAGNOSIS CAN BE MADE BASED ON HISTORY AND PHYSICAL EXAM FINDINGS 80-90% OF THE TIME
7 INTRODUCTION DIAGNOSTIC APPROACH History: Establish the demographics of the patient: Age Gender Ethnicity Family History Characterize joint pain and ask about associated features Characterize back pain: Inflammatory vs. Non inflammatory Constitutional symptoms
8 INTRODUCTION DIAGNOSTIC APPROACH History: Organ specific symptoms Eye: Pain, redness, dryness, vision changes Heart: Chest pain, palpitations, orthopnea, PND Lungs: Dyspnea, cough Kidneys: Hematuria, edema GI: GERD, dysphagia, GIB, bowel habit changes Skin: Ulcer, photosensitivity, rashes, alopecia, nail abnlity Neuro: CNS changes, neuropathy, CN abnormalities ID: recent infections
9 INTRODUCTION DIAGNOSTIC APPROACH Physical Exam: Head to toe evaluation Eye redness Mouth dryness/ulcers Rales, effusions, murmurs, rubs Hepatosplenomegaly LAD Motor strength, sensation, DTR s
10 INTRODUCTION DIAGNOSTIC APPROACH Physical Exam: Head to toe evaluation Rashes, telangiectasis, nail changes, pigmentation changes Peripheral pulses, bruits Back exam Joint exam
11 INTRODUCTION DIAGNOSTIC APPROACH Laboratories: Results must be interpreted in light of the clinical findings Three areas of interest: Blood, Urine, Synovial fluid
12 INTRODUCTION DIAGNOSTIC APPROACH Blood: CBC: Anemia, leukopenia, thromobocytopenia Chemistries: renal insufficiency, elevated LFT s, uric acid ESR/CRP: non specific Autoantibodies: RF, ANA, ENA, dsdna, ANCA HLA B-27, HLA B-51 ASO Ferritin Lyme titer
13 INTRODUCTION DIAGNOSTIC APPROACH Urine: Proteinuria Hematuria Active sediment
14 INTRODUCTION DIAGNOSTIC APPROACH Synovial fluid: Cell count Gram stain and culture Crystal analysis
15
16 CASE 1 CC: Arthralgia in hands and feet HPI: 50 yo WW presents with 6 weeks of arthralgia in hands and feet. Swelling over MCP s, PIP s. Has tried naproxen with partial relief ROS, PMH, PSH, Social HX: Negative FH: mother with rheumatoid arthritis PE: Tenderness & synovitis of wrists, R MCP 2-4 and B PIP 3 Labs: CRP: 1.3 mg/dl, RF -, CCP 25 (nl < 20 u/ml), normal Xray
17 MUSCULOSKELETAL COMPLAINT EVALUATION OF PATIENTS WITH MUSCULOSKELETAL COMPLAINTS Goals Accurate diagnosis Timely provision of therapy Avoidance of unnecessary diagnostic testing Approach Anatomic localization (articular vs. non-articular) Nature of pathologic process (inflammatory vs. non-inflammatory) Extent of involvement (monoarticular, polyarticular, focal, diffuse) Determination of chronology (acute vs. chronic) Consider the most common disorders first Formulation of a differential diagnosis Harrison's Principles of Internal Medicine - 17th Ed. (2008)
18 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH Articular Vs. Non Articular: Articular structures
19 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH Articular Vs. Non articular: Non articular structures
20 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH History and physical exam pearls: Articular: Pain is diffuse and deep Pain with active and passive range of motion Swelling Crepitation, locking, instability or deformity
21 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH History and physical exam pearls: Non articular: Pain with active but not passive ROM Tenderness in adjacent structures Other physical findings in remote areas
22 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH Monoarticular Vs. Polyarticular Monoarticular: 1 joint involved Oligoarticular: 2-4 joints involved Polyarticular: >4 joints involved
23 MUSCULOSKELETAL COMPLAINT Monoarticular Polyarticular Infection, crystal disease RA, psoriatic arthritis
24 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH Inflammatory Vs. Non inflammatory Rheumatoid arthritis Osteoarthritis
25 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH History and Physical exam Pearls: Inflammatory: Erythema Warmth Pain Swelling Tenosynovitis Stiffness after prolonged rest Fatigue
26 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH History and Physical exam Pearls: Non Inflammatory: Pain without swelling Gel phenomenon Pain is aggravated with activity
27 MUSCULOSKELETAL COMPLAINT Inflammatory arthritis
28 MUSCULOSKELETAL COMPLAINT Inflammatory arthritis
29 MUSCULOSKELETAL COMPLAINT Inflammatory arthritis
30 MUSCULOSKELETAL COMPLAINT Non Inflammatory arthritis
31 MUSCULOSKELETAL COMPLAINT Systemic Vs. Localized RA, SLE Osteoarthritis
32 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH Persistent Vs. Episodic Gout Pseudogout Disease activity Rheumatoid arthritis Ankylosing spondylitis Time (weeks)
33 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH Acute Vs. Insidious onset Disease activity Acute gout Gonococcal arthritis Rheumatoid arthritis Osteoarthritis Time (weeks)
34 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH Physical exam: Look for clues in other organs that may lead to a diagnosis
35 MUSCULOSKELETAL COMPLAINT Rheumatoid arthritis
36 MUSCULOSKELETAL COMPLAINT Psoriasis
37 MUSCULOSKELETAL COMPLAINT Gonoccocal arthritis
38 MUSCULOSKELETAL COMPLAINT Ankylosing Spondylitis
39 MUSCULOSKELETAL COMPLAINT Gout
40 MUSCULOSKELETAL COMPLAINT Sarcoidosis IBD related arthritis
41 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH Laboratories: CBC: Anemia, thrombocytosis Neutropenia, thrombocytopenia Hemolysis, thrombocytopenia Inflammation Felty s syndrome SLE Elevated ESR, CRP inflammation CCP antibodies: Positive in 40% of RF negative RA, CCP is far more specific for RA than RF is, but a negative result does not exclude the diagnosis of RA Van Venrooij WJ, Autoimmun Rev 2006; 6(1):37-41
42 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH Laboratories:
43 MUSCULOSKELETAL COMPLAINT DIAGNOSTIC APPROACH Synovial fluid analysis Condition Appearance WBC count PMN% Other Normal Clear/straw < 200 < 25% Trauma Clear/bloody < 2000 < 25% OA Clear/slightly cloudy < 2000 < 25% Occasional cartilage fragments Infection Cloudy/purulent > > 80% Organisms on gram stain RA Gout Pseudogout Cloudy/light yellow Cloudy/white or yellow Cloudy/white or yellow < % Occasional cholesterol crystals > % MSU crystals > % CPPD crystals
44 MUSCULOSKELETAL COMPLAINT Monosodium urate crystal
45 MUSCULOSKELETAL COMPLAINT Calcium pyrophosphate crystal
46
47 CASE 2 CC: Arthralgia and muscle weakness HPI: 46 yo AAW who presents with 6 months of arthralgia in shoulders, hands, knees and feet. Swelling wrists, and PIP s. She also has difficulty getting up from a chair, and combing her hair. ROS: Easy bruisability, Raynaud s phenomenon, hair loss PMH, PSH, social history and family history: NC PE: Diffuse hair loss, TJC 26, SJC 9. Weakness in proximal arms, legs and neck flexors Labs: Leukopenia, elevated AST, CPK 1000, aldolase 12, UA: nl, ANA 1:640, RNP pos, C3 120, C4 8
48 CONNECTIVE TISSUE DISEASE Diagnostic approach: History pearls: Multisystem organ involvement is common Constitutional: Fatigue, fever, weight loss Eyes: Sicca, redness, pain ENT: Sicca, oral/nasal ulcers, dysphagia, sore throat Heart: Chest pain, orthopnea, PND Lungs: Pleuritic pain, dyspnea, cough Abdomen: GERD, bowel changes, GIB Joints: Pain, swelling, stiffness
49 CONNECTIVE TISSUE DISEASE Diagnostic approach: History pearls: Skin: Photosensitivity, hair loss, rashes, Raynaud s, nail changes Neurological: Neuropathy, muscle weakness, mental status changes, headache, seizures Psychiatric: Depression, psychosis GU: genital ulcers
50 CONNECTIVE TISSUE DISEASE Diagnostic approach: Physical exam pearls: Head to toe examination
51 CONNECTIVE TISSUE DISEASE Relapsing polychondritis, granulomatosis with polyangiitis
52 CONNECTIVE TISSUE DISEASE SLE
53 CONNECTIVE TISSUE DISEASE SLE, Behcet s disease
54 CONNECTIVE TISSUE DISEASE Systemic sclerosis
55 CONNECTIVE TISSUE DISEASE SLE
56 CONNECTIVE TISSUE DISEASE Systemic sclerosis
57 CONNECTIVE TISSUE DISEASE Systemic sclerosis, dermatomyositis
58 CONNECTIVE TISSUE DISEASE Systemic sclerosis, SLE
59 CONNECTIVE TISSUE DISEASE Dermatomyositis
60 CONNECTIVE TISSUE DISEASE Dermatomyositis
61 CONNECTIVE TISSUE DISEASE SLE
62 CONNECTIVE TISSUE DISEASE Chronic cutaneous lupus
63 CONNECTIVE TISSUE DISEASE SLE, antiphospholipid syndrome, Sjogren syndrome
64 CONNECTIVE TISSUE DISEASE Goldblatt F. Lancet 2013; 382:
65 CONNECTIVE TISSUE DISEASE Diagnostic approach: Laboratories: CBC: Hemolysis, thrombocytopenia, leukopenia, lymphopenia CMP: Renal insufficiency, elevated LFT s, hypokalemia Urinalysis: Hematuria, proteinuria, active sediment, inability to acidify the urine
66 CONNECTIVE TISSUE DISEASE Diagnostic approach: Laboratories: ANA: Antibodies against nuclear specificities (e.g. DNA, snrnp) ANA can be seen in the normal population: 1:40: 20-30% 1:80: 10-12% 1:160: 5% 1:320: 3% Kelley s Rheumatology Textbook- 8th Ed. (2009)
67 CONNECTIVE TISSUE DISEASE Causes of Positive ANA % Causes of positive ANA % SLE ~99 DLE 5-25 Systemic sclerosis 97 Fibromyalgia PM/DM Rheumatoid Arthritis Sjogren syndrome Relatives of patients with autoimmune diseases Drug induced lupus 100 MS MCTD 100 ITP Autoimmune hepatitis 100 Thyroid disease Juvenile arthritis Breast implants APS Infectious disease Varies Raynaud s phenomenon Malignancies Varies Adapted from Kavanaugh, A. Arch Pathol Lab Med 2000, 124:71-81)
68 CONNECTIVE TISSUE DISEASE Diagnostic approach: Laboratories:
69 CONNECTIVE TISSUE DISEASE Diagnostic approach: Laboratories: In clinical use, ANA is insufficient to establish or refute a diagnoses ANA results add weight to diagnoses that throughout the evaluation should rely heavily on other clinical information
70 CONNECTIVE TISSUE DISEASE Diagnostic approach: Imaging studies: Systemic sclerosis
71 CONNECTIVE TISSUE DISEASE Diagnostic approach: Imaging studies: Systemic sclerosis
72 CONNECTIVE TISSUE DISEASE Diagnostic approach: Imaging studies: SLE
73
74 CASE 3 CC: Cough and dyspnea HPI: 50 yo WM who presents with 2 months of worsening cough, productive of yellow sputum, intermittent fever, DOE at 50 ft, sinus pressure and arthralgia. ROS: Loss of hearing PMH: Scleritis 1990, pneumonia 2012 PSH, social history and family history: NC PE: Tenderness of paranasal sinuses, rhonchi in B lung fields Labs: Normocytic anemia, creatinine 1.4 mg/dl, CRP 3 mg/dl, ESR 50 mm/hr, ANA -, ANCA +, PR 3 +, UA: blood +, 20 RBC CXR: bilateral alveolar infiltrates and cavitary lesion on the left lower lobe
75 Jennette, JC. Arthritis & Rheumatism ;1: 1-11
76 APPROACH TO VASCULITIS Diagnostic approach: History pearls: Constitutional symptoms are common Hearing loss, eye pain, redness Upper respiratory symptoms: sinusitis, purulent drainage, epistaxis, nasal ulceration, stridor Lower respiratory symptoms: dyspnea, cough, hemoptysis, asthma
77 APPROACH TO VASCULITIS Diagnostic approach: History and Physical exam pearls: Neuropathic symptoms, muscle weakness History of hepatitis B or C, HIV, other viruses Skin rashes, ulcers, nodules or vesicles Abdominal pain, GIB
78 APPROACH TO VASCULITIS Diagnostic approach: Physical exam pearls: GPA Relapsing polychondritis
79 APPROACH TO VASCULITIS Diagnostic approach: Physical exam pearls: GPA
80 APPROACH TO VASCULITIS Diagnostic approach: Physical exam pearls: Eosinophilic granulomatosis with polyangiitis
81 APPROACH TO VASCULITIS Diagnostic approach: Physical exam pearls: Polyarteritis nodosa
82 APPROACH TO VASCULITIS Diagnostic approach: Physical exam pearls: Henoch-Schonlein purpura
83 APPROACH TO VASCULITIS Goldblatt F. Lancet 2013; 382:
84 APPROACH TO VASCULITIS Diagnostic approach: Labs: CBC: Anemia Elevated ESR/CRP CMP: Renal insufficiency, hypoalbuminemia Immunological: ANA, ANCA, cryoglobulins, RF, complements Other: Hepatitis serologies Urinalysis: Hematuria, proteinuria, cellular casts
85 APPROACH TO VASCULITIS Diagnostic approach: Imaging: GPA
86 APPROACH TO VASCULITIS Diagnostic approach: Imaging: Polyarteritis nodosa
87 APPROACH TO VASCULITIS Diagnostic approach: Imaging: Goodpasture s syndrome GPA Microscopic polyangiitis
88 APPROACH TO VASCULITIS Diagnostic approach: Imaging: GPA
89 TAKE HOME MESSAGES A full history and physical exam can lead to a diagnosis 80-90% of the time In patients with a musculoskeletal symptom characterize the pain: Is it articular?, how many joints are involved?, is it inflammatory?, is it a systemic process?, What is the duration of symptoms? ANAs can be positive in multiple conditions and even in the normal population. Think of the pre-test probability for a connective tissue disease before ordering it
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