Curriculum standards
Knowledge guides
LG16: Connective tissue disease
Key presentations and conditions
Advanced Trainees will have a comprehensive depth of knowledge of these presentations and conditions.
Less common or more complex presentations and conditions
Advanced Trainees will understand these presentations and conditions.
Advanced Trainees will understand the resources that should be used to help manage patients with these presentations and conditions.
Epidemiology, pathophysiology, and clinical sciences
Advanced Trainees will have a comprehensive depth of knowledge of the principles of the foundational sciences.
Investigations, procedures, and clinical assessment tools
Advanced Trainees will know the scientific foundation of each investigation and procedure, including relevant anatomy and physiology. They will be able to interpret the reported results of each investigation or procedure.
Advanced Trainees will know how to explain the investigation or procedure to patients, families, and carers, and be able to explain procedural risk and obtain informed consent where applicable.
Important specific issues
Advanced Trainees will identify important specialty-specific issues and the impact of these on diagnosis and management and integrate these into care.
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:
- ocular
- vascular
- Ulcers, mouth
Conditions
- Antiphospholipid syndrome
- Adult-onset Still disease
- Immunoglobulin G4 (IgG4)-related disease
- Inflammatory disorders:
- auricular
- ocular
- Mixed connective tissue disease / Overlap syndrome
- Non-inflammatory and genetic connective tissue disorders, such as:
- Ehlers–Danlos syndrome
- Polychondritis, relapsing
- Sarcoidosis
- Sjögren syndrome:
- primary
- secondary
- Systemic lupus erythematosus (SLE):
- cutaneous lupus
- drug-induced lupus
- systemic
- Systemic sclerosis (SSc):
- diffuse cutaneous
- limited
-
mimics:
- eosinophilic fasciitis
-
scleredema:
- scleromyxedema
- 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:
- cyclosporin
- tacrolimus
- glucocorticoid:
- intravenous
- oral
- 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:
- core
- excisional
- muscle
- nerve, sural
- skin
- Coagulation test
- Complements, such as:
- C3
- C4
- 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:
- protein electrophoresis
- metabolic conditions, such as:
- thyroid function tests
- relevant infectious serologies
- malignancy, such as:
- Kidney function test (EUC)
- Liver function test (LFT)
- Pre-immunosuppression screening, such as:
- hepatitis:
- B
- C
- human immunodeficiency virus (HIV)
- latent tuberculosis or gamma-release assay, such as:
- QuantiFERON Gold
- strongyloides stercoralis
- syphilis
- varicella zoster virus
- hepatitis:
- 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