Kinder CIS part 3 Flashcards
Mixed Connective Tissue Disease
Overlap syndrome with clinical features of SLE, Scleroderma, and Polymyositis *** + Anti-U1-RNP 80% are women Peak ages teens to twenties 50% Hand edema and synovitis 33% Myositis 50% Decreased esophageal motility 50% fibrosing alveolitis 20% Pulmonary Hypertension
Mixed Connective Tissue Disease skin manifestations and some other
- diffuse swelling of the hands classicallly described
Skin manifestations - Sclerodactyly - Scleroderma - Calcinosis - Telangiectasias - Photosensitivty - Malar rash - Gottron rash 60% Pleruopericarditis 50% Sicca symptoms 25% Trigeminal neuralgia 25% Kidney involvement (membranous nephropathy)
Mixed Connective Tissue Disease symptoms
Raynaud phenomenon
* Diffuse swelling of the hands
Lupus or dermatomyositis like rashes
Diffuse systemic sclerosis-like skin changes and ischemic necrosis and ulceration of the fingertips
Polyarthralgias
Arthritis in 75%
Sometimes erosive arthritis and deformities
Proximal muscle weakness
Membranous nephropathy in 25% of patients – typically mild
Interstitial Lung Disease
Pulmonary Hypertension is a major cause of death
Heart failure
Sjögren syndrome
Mixed Connective Tissue Disease Labs
Elevated ANA in a speckled pattern
Elevated Anti-U1 RNP
Anti-Sm and anti-DS DNA are negative
RF and ESR may be elevated
Mixed Connective Tissue Disease Prognosis
10-year survival is 80%
Symptoms of scleroderma and polymyositis have worse prognosis
Causes of death include pulmonary hypertension, renal failure, MI, colonic perforation, disseminated infection, and cerebral hemorrhage
Mixed Connective Tissue Disease treatment
Based on the specific organ system involvement
Relapsing Polychondritis
Immune mediated condition
Auricular chondritis
Inflammation of other cartilaginous areas
- Nose, joints, trachea, ribcage, and airways
- Proteoglycan rich areas such as eyes and heart valves
Associations
- Systemic vasculitis
- Connective tissue disease
- Myelodysplastic syndrome
Relapsing Polychondritis dx and associations
30% associated with other diseases
- Systemic vasculitis – Wegener granulomatosis
- Connective Tissue Disease – RA or SLE
- Myelodysplastic Syndrome
Diagnosis
- Cartilaginous inflammation in typical Areas
- – Auricular, nasal bridge, costochondral joints
relapsing polychondritis clinical findings- ear and nose
Ear::
Inflammation and pain that spares the earlobe
Cartilaginous areas are erythematous and tender
Swelling of external canal can cause conductive earing loss
Sensorineural hearing loss of unknown cause
Nose: Tenderness of the nasal bridge Epistaxis Saddle-nose deformity Nasal septal perforation
relapsing polychondritis clinical findings-trachea, bronghi, airways, eyes
Trachea:
Subglottic stenosis
Tenderness to palpation of the anterior cervical trachea, thyroid cartilage, and larynx
Bronchi and Airways:
May mimic asthma
Mucociliary dysfunction leads to infections
Eyes:
Scleritis – pain and photophobia
Episcleritis and Conjunctivitis
relapsing polychondritis clinical findings- heart, joints, skin
Heart:
Aortic and Mitral Regurgitation
Cardiac conduction abnormalities
Joints:
Intermittent, migratory oligoarthritis
Occasionally symmetric polyarticular
Skin:
Aphthous ulcers, nodules, purpura, papules, and sterile pustules
MAGIC syndrome
Mouth and genital ulcers with inflamed cartilage
relapsing polychondritis clinical findings-kidney and labs
Kidney
- Pauci-immune glomerulonephritis
Laboratory
- No specific findings
- Mild normochromic, normocytic anemia
- Cytopenias
- – Myelodysplasia
- ANA and RF are negative
- Complement normal
- ANCA +
- – Wegener granulomatosis
relapsing polychondritis - Testing
CT
- valuation of airways
Fiberoptic layngoscopy
Pulmonary Function Testing
- Determine extrathoracic verses intrathoracic obstruction
Biopsy
- Cautiously, can lead to complete airway obstruction
relapsing polychondritis - Differential Diagnosis
Aural Chondritis- Infection
Nasal inflammation with Saddle Nose deformity: Wegener granulomatosis Crohn disease Syphilis Leprosy Lymphoma Leishmaniasis
relapsing polychondritis - Complications
Cauliflower ear
Saddle-nose deformities
Extrathoracic airway obstruction can lead to tracheostomy
Postobstructive infections
Cardiac valvular regurgitation can lead to valve replacement
relapsing polychondritis - Treatment
Glucorticoids are treatment of choice for reduction of cartilagenous inflammation
Others
- Dapsone, colchicine, and NSAID to limit glucocorticoid use
Methotrexate – most common glucocorticoid sparing agent
Cyclophosphamide for glomerulonephritis
Airway disease
- Direct steroid injection
- Mechanical interventions
- Stenting
Spondylarthritis types
Ankylosing spondylitis
Psoriatic arthritis
The arthritis of inflammatory bowel disease
Reactive Arthritis
Entheses – tendons, fascia, and ligaments insert into bone
- Heel pain – achilles tendon
- Foot pain – plantar aponeurosis
- Digit – flexor or extensor tendons - dactylitis or sausage digit
Ankylosing Spondylitis
Inflammatory back pain in young adults Radiographic evidence of sacroiliitis Reduced spinal mobility, especially lumbar flexion Anterior uveitis HLA-B27 increased relative risk Positive family history
Ankylosing Spondylitis and HLA B-27
85% of patients have HLA-B27
HLA-B27 present in 8-10% of white Americans with 0.1-0.2% having the disease
Child of an HLA B-27 positive parent with spondylitis has about a 10% chance of developing disease
Ankylosing Spondylitis Typical presentation
Young male 3:1
Pain/stiffness in buttocks, low back, and chest wall
Worse with rest and better with exercise
Reduced spinal mobility
Family History of ankylosing spondylitis
Oligoarticular/monoarticular large joint involvement (Hips and Shoulders)
History of eye pain, redness, blurry vision – anterior uveitis
tests for ankylosing spondylitis
Schober Test, Chest expansion, Occiput-to-wall measurement
Ankylosing Spondylitis- other symptoms re: arthritis and enthesitis and eyes
Peripheral Arthritis
Hips and Shoulders in 50% of patients
Enthesitis
- Leads to spinal fusion and ankylosis
- Costosternal joints – chest wall pain
- Achilles tendon insertion
- Plantar aponeurosis
Anterior uveitis in 30% of patients
- Abrupt onset, intense pain, and photophobia
Ankylosing Spondylitis cardiac and neurologic symptoms
Cardiac:
Less than 5% of patients
1st degree AV block
Higher degree blocks can require pacemaker
Aortic regurgitation due to inflammatory thickening of the aortic valve and root
Valve replacement may be required within 1-2 years of onset of murmur
Neurologic:
Cauda equina syndrome – rare
Atlantoaxial subluxation
Ankylosing Spondylitis renal and lung stuff
Renal:
Secondary renal amyloidosis
After many decades of persistent inflammatory disease
Proteinuria and nephrotic syndrome
Lung:
Apical pulmonary fibrosis
Rare and of no clinical consequence
Restrictive pattern on PFT due to costovertebral joint involvement and ankylosis of the thoracic spine
Ankylosing Spondylitis labs
ESR and CRP elevated in 50% of patients and more associated with peripheral disease
RF negative
ANA negative
Serum complement levels normal