Rheumatology 2 Flashcards
What is ankylosing spondylitis?
Seronegative spondyloarthropathy
Chronic autoimmune inflammatory disease of the axial skeleton
What is the typical onset for AS?
20s-30s
Give four risk factors for AS?
HLA-B27 positivity
Male gender
FH of AS or psoriasis
Recent GU infection
Give three aspects of the pathogenesis of AS.
Lymphocyte and plasma cell infiltration
Local bone erosion and enthesitis
Syndesmophytes and bamboo spine
What is the typical presentation of AS?
Pain before the age of 35 (lower back, buttocks, anterior chest)Morning stiffness relieved by exercise
Can wake patient from night
Asymptomatic between episodes
What is the characteristic of peripheral joint involvement in AS?
Asymmetrical
Give three signs of AS.
Question mark posture - thoracic kyphosis with retention of lumbar lordosis
reduced chest expansion
Paraspinal muscle wasting
Schober’s test<5cm
What are the 4As of other manifestations of AS?
Achilles tendonopathy Anterior uveitis Apical lung fibrosis Aortic regurgitation Atlanto-axial subluxation
What is the initial investigation in AS and what is found?
X-Ray
Sacroilitis, sclerosis and fusion
Why is MRI used in AS?
Shows sacroiliitis and enthesitis better
What medications are used in AS?
Adalimumab SC
Certolizumab pegol SC
Etanercept SC
Infliximab IV
What is the name of the heterogenous group of heritable connective tissue disorders?
Ehlers-Danlos Syndrome
How many subtypes of EDS are there?
13
What are the most important types of EDS?
- Classical
- Classical-like
- Cardiac-valvular
- Vascular
- Hypermobile (50%)
- Kyphoscoliotic
What are the skin symptoms of EDS?
Increased skin elasticity and fragility
Easy bruising
Widening scars
Skin splitting on forehead, knees, and elbows
What are the join symptoms of EDS?
Laxity and hypermobility
Spontaneous dislocations and subluxations - shoulder, knee, TMJ
Pes planus
Give some other symptoms of the various types of EDS.
Cardio - dizziness, palpitations, dysautonomia
MSK - herniation, hypotonia, kyphoscoliosis
Other - uterocervical prolapse, fatiguability
How is EDS diagnosed?
Hypermobile type - clinical
Other types - molecular genetic testing
What is the management of EDS?
Physiotherapy
Pain management and CBT
Certain forms use celiprolol.
What is celiprolol?
Beta-1 adrenoreceptor antagonist
Prevents arterial dissections and ruptures
What is the mutation in Marfan’s syndrome?
Fibrillin 1 gene
Found on chromosome 15q21
2/3 familial transmission, 1/3 sporadic mutations associated with advanced paternal age
What are signs of Marfan’s syndrome?
Dolichostenomelia (long arms and legs compared to trunk)
Tall and thin
Arachnodactyly
Thoracolumbar and sacral striae
What are patients with Marfan’s at risk of?
Pleural rupture and pneumothorax
Cardio - AAA/dissection/aortic or mitral valve problems
Eyes - Lens dislocation, closed angle glaucoma
Hypermobility and arthralgia
How are Marfan’s patients monitored?
Annual echo
Cardiac MRI/CT every 5 years
Apart from managing the complications, how are Marfan’s patients treated?
Prophylactic beta-blockers
What is the name of the inflammatory condition characterized by severe bilateral pain and morning stiffness of the shoulder, neck, and pelvic girdle?
Polymyalgia rheumatica
What is the main risk factor for PMR?
Giant cell arteritis
What is the prodrome of PMR?
Flu-like
Sudden, over 1-2 weeks
What is the diagnostic criteria for PMR?
1) Age over 50
2) Symptoms > 2 weeks
3) Bilateral shoulder and/or pelvic girdle aching WITHOUT WEAKNESS
4) Morning stiffness > 45m
5) Raised ESR/CRP
What bloods are required in diagnosis of PMR and exclusion of other conditions?
ESR, CRP, viscosity FBC, UEs, LFTs, TFTs, Bone profile Protein electrophoresis Creatinine kinase RF ANA and anti-CCP
What other investigations are required in PMR?
Urinalysis and Bence Jones
CXR
USS shoulders/hips
What is the treatment of PMR?
PMR is extremely sensitive to steroids.
Steroid regimen - PO prednisolone gradually decreasing over 1-2 years
What should be done if a PMR patient is high risk for fragility fractures?
Perform DEXA
Give bisphosphonates with calcium and Vit D supplements
What is myositis?
CTD involving inflammation of striatal muscle
What are the types of polymyositis?
Dermatomyositis
Polymyositis
Necrotizing autoimmune myopathy
Sporadic inclusion body myositis
What are the main symptoms of myositis?
Diffuse proximal weakness
Fatigue and myalgia
Distal muscles spared until late in disease
How does diffuse proximal weakness present?
Difficulty rising from chair
Climbing steps
Lifting objects
Combing hair
What can myositis progress to?
Pharyngeal weakness - dysphagia
Laryngeal weakness - dysphonia
Respiratory failure and lung fibrosis
What are the signs of dermatomyositis, excluding the muscle symptoms?
Heliotrope discolouration of eyelids and periorbital oedema
Gottron’s papules
Ulcerative vasculitis
Photosensitive macular rash in shawl pattern
Scales and shininess
What do lab tests show in myositis?
Elevated CK, aldolase, LDH
PM: anti-Jo1
DM: ANA, anti-Mi2
How is myositis diagnosed?
EMG - spontaneous fibrillation potentials at rest
Muscle biopsy - fibre necrosis and inflammatory infiltrate
MRI - inflammation