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
What should be excluded in elderly patients with dermatomyositis?
Malignancy
What is the treatment of myositis or dermatomyositis?
High dose systemic steroids
Immune suppression - azathioprine, cyclophosphamide, mycophenolate mofetil
IVIG
What is pseudogout?
Joint inflammation caused by deposition of calcium pyrophosphate dihydrate crystals
Attacks of pseudogout can be precipitated by….
Dehydration
Intercurrent illness
Dysregulation of calcium-phosphate homeostasis
Surgery or trauma
How does pseudogout present?
Acute monoarticular/oligoarticular arthritis
Typically knees or wrists
Similar but milder than gout
There may be fever
How does Chronic CPP arthritis present?
Destructive changes more severe than OA
Neuropathic joint
How is pseudogout present?
X-Ray - linear opacification of articular cartilage
Joint aspiration - purulent, neutrophils, crystals.
What are the characteristics of joint crystals in pseudogout?
Intracellular and extracellular weakly positive birefringent rhomboid crystals.
How is pseudogout managed?
Symptomatic - ice packs, rest, therapeutic aspiration, NSAIDs, colchicine
What percentage of psoriasis patients develop a seronegative spondyloarthropathy?
5-25%
Apart from an inflammatory arthritis, how does psoriatic arthritis present?
Dactylitis Enthesitis Nail changes Anterior uveitis Sacroilitis Aortitis
What are the different types of psoriatic arthritis?
- Symmetrical polyarthritis rheumatoid pattern (DIPs>MCPs)
- Oligoarthritis
- Lone DIP disease
- Arthritis mutilans
- Spondylitic pattern and sacroilitis
How is psoriatic arthritis diagnosed?
Increased ESR/CRP
HLA-B27 and IgA
Joint aspiration shows neutrophils
X-Ray for erosions
How is psoriatic arthritis managed?
Methotrexate address both skin and joint disease
2nd line: sulfasalazine, leflunomide
Why should hydroxychloroquine be avoided in psoriatic arthritis?
May cause an exfoliative dermatitis
What biologics should be considered in psoriatic arthritis?
TNF inhibitors
After inadequate response to one DMARD, or patients with axial disease
What are the subgroups of reactive arthritis?
Post-enteric - campylobacter, salmonella, shigella, yersinia
Post-venereal - HIV or chlamydia
How long after infection does reactive arthritis develop?
Minimum of 1 and maximum of 6 weeks
What is the typical arthritis in reactive arthritis?
Asymmetrical, predominantly lower extremity oligoarthritis
What are the other symptoms of reactive arthritis?
Malaise and fever Reiter's syndrome Nail changes Mouth ulcers Erythema nodosum/circinate balanitis
What is seen on bloods in reactive arthritis?
High CRP and ESR
HLA-B27 pos, RF and ANA neg
Normochromic normocytic anaemia, leucocytosis and thrombocytosis
What does joint aspiration show in reactive arthritis?
Polymorphonuclear leukocytes
What are important investigations in reactive arthritis?
Culture of stools, throat, and urogenital tract samples
What is the management of reactive arthritis?
Corticosteroids (IA or PO)
Abx
Limited use for sulfasalazine
What is the pathophysiology of systemic sclerosis?
Increased fibroblast activity resulting in the abnormal growth of connective tissue and collagen, causing vascular damage and fibrosis
What are the types of scleroderma?
Limited cutaneous systemic sclerosis
Diffuse cutaneous systemic sclerosis
Overlap systemic sclerosis
Systemic sclerosis sine scleroderma
What is the difference between limited and diffuse cutaneous systemic sclerosis?
Limited - skin affected only on face, forearms, and lower leg. Milder disease and slow progression.
Diffuse - skin also involves upper arms, thighs, or trunk. Rapid progression and high mortality
Both have symptoms included in CREST acronym
What does CREST stand for?
Calcinosis Raynaud's Esophageal dysmotility Sclerodactyly Telangiectasia
What are five signs of scleroderma?
Sclerodactyly Fingertip pitting and ulceration Calcinosis Microstomia Telangiectasia Joint pain
What are the pulmonary features of scleroderma?
80% pulmonary fibrosis
Pulmonary arterial hypertension is the leading cause of death
What are the GI features of scleroderma?
GORD
Watermelon stomach and GI bleed from gastric antral vascular ectasia
Reduced small bowel motility
What autoantibodies are associated with scleroderma?
Anti-topoisomerase 1 - diffuse
Anti-centromere - limited
Anti-RNA polymerase
ANA
What is the main management of scleroderma?
Immunotherapy - MTX, MMF, CYC
How is the following managed in scleroderma?
1) Raynaud’s
2) Pulmonary fibrosis
3) PAH
4) Renal crisis
5) Contractures/calcinosis
1) Nifedipine
2) CYC or MMF infusion
3) Bosentan, ambrisentan, sildenafil
4) ACEIs plus dialysis
5) Surgical procedures, aluminium hydroxide
What is scleroderma associated with?
Breast, lung, and haematological malignancies
Sjogrens syndrome
What are five risk factors for septic arthritis?
Increasing age Diabetes mellitus Prior joint damage e.g. RA Joint surgery Immunodeficiency
What are the features of gonococcal septic arthritis?
Fever
Arthralgia
Multiple skin lesions
Tenosynovitis
What are the symptoms of septic arthritis?
Single swollen, red, hot joint
Severe pain on active or passive movement
Fever and rigors
How is septic arthritis diagnosed?
Blood cultures
Increased CRP and WCC
Synovial fluid: leukocytes, gram staining and culture, polarising microscopy
-X-ray: osteomyelitis, fat pad displacement, swelling of capsule and soft tissue, joint space widening due to effusion
What is the treatment of septic arthritis?
Surgical drainage
High dose IV abx that cover s.aureus and strep A
What is Sjogren’s syndrome?
Chronic lymphocytic infiltration of exocrine glands
What are two risk factors for Sjogren’s syndrome?
HLA B8 or DR3
Vitamin D deficiency
How does Sjogren’s syndrome present?
Xerophthalmia Xerostemia Recurrent bilateral parotitis Dry cough and dysphagia Fatigue
How is Sjogren’s syndrome diagnosed?
RF and ANA, anti-Ro and anti-La
Schirmer test <5mm (normal - 15mm)
How is Sjogren’s syndrome managed?
Artificial tears and saliva replacement
Avoid anti-cholinergics
Pilocarpine tablets
What are the two main aspects of pathophysiology of vasculitis?
Vessel wall destruction leading to aneurysm or rupture
Stenosis leading to tissue ischaemia and necrosis
Name the large and medium vessel vasculitides?
Large: GCA, Takayasu’s
Medium: PAN, Kawasaki
Name the ANCA-associated vasculitides.
Granulomatosis with polyangiitis
Eosinophilic granulomatosis with polyangiitis
Microscopic polyangiitis
Apart from those associated with ANCA, name three other small vessel vasculitides.
Cryoglobulinaemic vasculitis
Henoch-Schonlein Purpura (IgA vasculitis)
Hypocomplementaemic urticarial vasculitis
What are the two forms of ANCA and which conditions are they found in?
Cytoplasmic (c-ANCA) - GPA
Perinuclear (p-ANCA) - MPA and EGPA
Name five presentations of a large vessel vasculitis.
Arm claudication Diminished pulses Jaw claudication Aortic arch aneurysm Visual loss
Which arteries does Takayasu arteritis affect?
Aorta and great vessels
How can Takayasu arteritis present?
Systemic upset including arthralgia and myalgia
Arm claudication and loss of pulses
Hypertension from renal artery stenosis
Stroke and visual change
How is Takayasu arteritis diagnosed?
F-FDG PET-CT scan
How is Takayasu arteritis and PAN managed?
PO prednisolone
MTX/AZA/MMF if steroid resistant
What is polyarteritis nodosa?
Necrotizing vasculitis of medium sized arteries
What is a risk factor for PAN?
Hepatitis B
How does PAN present?
Systemic upset Vasculitis rash and livedo reticularis, bullous and vesicular lesions GI haemorrhage Mononeuritis multiplex Kidney and pancreas
What is GPA?
Necrotizing granulomatous inflammation usually involving the upper and lower respiratory tract.
How does GPA present?
Sinusitis, epistaxis, crusts, septal perforation, saddle nose, gingivitis Haemoptysis Glomerulonephritis and haematuria Vasculitic skin change MNM
How is GPA diagnosed?
Lung/nose biopsy
c-ANCA, CRP, ESR
CXR and high resolution CT
What is the treatment of GPA?
CYC
AZA maintenance
RTX relapse
What is the triad of features of Still’s disease?
Persistent high spiking fevers
Joint pain
Salmon coloured bumpy rash
