Presentations
- Alopecia
- Arthritis, inflammatory
- Cardiac presentations
- Inflammation, ocular
- Lung disease, interstitial
- Lymphadenopathy
- Nervous system manifestations:
- central (CNS)
- peripheral (PNS)
- Periungual erythema
- Raynaud phenomenon
- Serositis
- Sicca
- Skin changes, such as:
- calcinosis
- purpura
- rash
- skin thickening
- Thrombosis:
- Ulcers, mouth
Conditions
- Antiphospholipid syndrome
- Adult-onset Still disease
- Immunoglobulin G4 (IgG4)-related disease
- Inflammatory disorders:
- Mixed connective tissue disease / Overlap syndrome
- Non-inflammatory and genetic connective tissue disorders, such as:
- Polychondritis, relapsing
- Sarcoidosis
- Sjögren syndrome:
- Systemic lupus erythematosus (SLE):
- cutaneous lupus
- drug-induced lupus
- systemic
- Systemic sclerosis (SSc):
- diffuse cutaneous
- limited
-
mimics:
-
scleredema:
- Undifferentiated connective tissue disease
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigation
- consider the impact of illness and disease on patients and families, and their quality of life
Manage
- provide evidence-based management
- prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
Presentations
- Erythema nodosum
- Panniculitis
Conditions
- Lupus-like disorders, such as:
- Aicardi–Goutières syndrome
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigation
- consider the impact of illness and disease on patients and families, and their quality of life
Manage
- provide evidence-based management
- prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
- Atypical / Variable presentations
- Environmental triggers, such as infectious triggers
- Female predominance in many autoimmune connective tissue diseases (CTDs)
- Genetic and epigenetic factors and their effect on the risk of the development of autoimmune CTDs
- Occupational exposures relating to CTDs, such as silica exposure in systemic sclerosis
- Pathophysiologic processes that underpin CTDs
- Socioeconomic determinants on disease severity
- Vaccine-induced disorders
Therapeutics and management principles
- Anticoagulation in antiphospholipid syndrome (APLS) using antiplatelets and, during pregnancy, low-molecular weight heparin
- Autologous stem cell transplant
- Chimeric antigen receptor (CAR) T-cell and emerging cell therapy
- Complications, pharmacology, and toxicity of immunosuppression and pulmonary arterial hypertension management
- Induction versus maintenance therapy and immunosuppression
- Management of sicca syndrome and CTD-related comorbidities, such as:
- cardiovascular diseases
- kidney failure
- osteoporosis
- Pharmacological therapeutics, complications, and drug toxicity in therapeutics, such as appropriate malignancy screening, infection prevention and screening, and vaccination
- Raynaud phenomenon treatment selection, including method of delivery, including intravenous, oral, and topical, such as:
- calcium channel blocker
- iloprost infusion
- non-pharmacological management, such as maintaining warmth and smoking cessation
- other vasodilatory therapies, such as endothelin receptor antagonists and phosphodiesterase type 5 (PDE5) inhibitors
- topical nitrates
- Selection of drug therapy / immunosuppression based on severity of the patient’s condition, likelihood of benefit, and organ involvement, including:
- alkylating agent, such as cyclophosphamide
- B cell depletion, such as rituximab
- calcineurin inhibitor, such as:
- glucocorticoid:
- interferon blockage, such as anifrolumab
- other conventional disease-modifying antirheumatic drugs (DMARDs) / immunosuppressive drugs, such as:
- azathioprine
- hydroxychloroquine
- leflunomide
- methotrexate
- mycophenolate
- sulfasalazine
Imaging and other investigations
- Bone density monitoring and assessment
- CT
- Echocardiogram
- Lung function test
- MRI
- PET-CT
- Ultrasound, including point of care ultrasound
- X-ray
Procedures
- Aspirate – joint
- Capillaroscopy – nail fold
Laboratory studies
- Anti-histone antibodies
- Antinuclear antibodies (ANA), including pattern and titre
- Antiphospholipid serology, such as:
- beta-2 glycoprotein
- cardiolipin antibodies
- lupus anticoagulant
- Biopsy, such as:
- kidney biopsy
- lymph node:
- muscle
- nerve, sural
- skin
- Coagulation test
- Complements, such as:
- C-reactive protein (CRP)
- Double-stranded DNA (dsDNA)
- Erythrocyte sedimentation (ESR)
- Extractable nuclear antigen antibodies (ENA)
- Full blood count (FBC)
- Investigations to exclude mimics of autoimmune disease, including:
- malignancy, such as:
- metabolic conditions, such as:
- relevant infectious serologies
- Kidney function test (EUC)
- Liver function test (LFT)
- Pre-immunosuppression screening, such as:
- hepatitis:
- human immunodeficiency virus (HIV)
- latent tuberculosis or gamma-release assay, such as:
- strongyloides stercoralis
- syphilis
- varicella zoster virus
- Urine analysis, such as:
- 24-hour collection for protein quantification
- protein creatine ratio
- urinary cast
- urine dysmorphic red cells
- Disease activity scores / indexes, and their role in research and clinical practice
- Interpretation of autoimmune serology in the appropriate clinical context, including interpretation of false positive and false negative results
- Pregnancy planning in the context of CTD:
- appropriate medication during preconception, pregnancy, and the postpartum period, including breastfeeding
- disease activity and timing of conception
- high-risk obstetric clinic referral
- maternal and fetal risk of individual CTDs, including specific organ involvement
- SLE monitoring during pregnancy, including appropriate screening and monitoring for neonatal lupus
