Curriculum standards
Knowledge guides
LG15: Autoimmune and autoinflammatory 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
Presentations may not be specific to a particular organ or system, so undifferentiated illness should be assessed for immune pathology
Conditions – organ-specific or organ-limited autoimmune diseases (as part of multidisciplinary team)
- Cutaneous disorders:
- autoimmune bullous skin disorders:
- epidermolysis bullosa acquisita
- linear immunoglobulin A dermatosis
- pemphigoid:
- bullous
- cicatricial
- gestationis
- pemphigus:
- foliaceus
- paraneoplastic
- vulgaris
- autoimmune panniculitis
- dermatitis herpetiformis
- lupus
- primary Raynaud’s phenomenon
- vitiligo
- autoimmune bullous skin disorders:
- Neuroimmunological disorders:
- autoimmune encephalitis associated with neuronal surface autoantibodies:
- anti-NMDA receptor encephalitis
- leucine-rich glioma-inactivated 1 antibody (LGI1-Ab)
- myelin oligodendrocyte glycoprotein antibody disease (MOGAD) / myelin oligodendrocyte glycoprotein antibody-associated encephalomyelitis (MOG-EM)
- neuromyelitis optica spectrum disorders (NMOSD)
- optic neuritis
- autoimmune encephalitis associated with neuronal surface autoantibodies:
Conditions – systemic autoimmune diseases
- Anti-phospholipid antibody syndromes:
- primary
- secondary
- Autoimmune inflammatory myositis:
- anti-synthetase syndrome
- dermatomyositis
- necrotising autoimmune myositis:
- anti-signal recognition particle-associated myositis
- hydroxymethylglutaryl-CoA reductase antibody-associated
- non-specific / overlap myositis
- polymyositis
- Connective tissue diseases:
- mixed
- undifferentiated and overlap
- Lupus erythematosus, including:
- neonatal lupus syndrome
- Sclerosis:
- diffuse cutaneous variants
- limited variants, including:
- calcinosis
- esophageal dysfunction
- Raynaud’s phenomenon
- sclerodactyly
- telangiectasias (CREST)
- Sjögren syndrome
- Vasculitis:
- large vessel:
- giant cell arteritis (GCA)
- Kawasaki syndrome
- Takayasu arteritis
- medium vessel:
- polyarteritis nodosa (PAN)
- primary central nervous system vasculitis
- small vessel:
- cryoglobulinaemic vasculitis
- eosinophillic granulomatosis with polyangiitis (EGPA)
- Goodpasture (anti-GBM) syndrome
- granulomatosis with polyangiitis (GPA)
- Henoch–Schönlein purpura
- leukocytoclastic and lymphocytic vasculitis confined to the skin
- microscopic polyangiitis (MPA)
- large vessel:
Conditions – systemic or organ-limited inflammatory / autoinflammatory disorders
- Acute febrile neutrophilic dermatoses (Sweet syndrome)
- Beçhet disease
- Corneal melt
- Erythema nodosum
- Eye disorders
- Immunoglobulin G4-related sclerosing disease
- Monogenic autoinflammatory disorders:
- Aicardi–Goutières syndrome
- chronic infantile neurological, cutaneous and articular syndrome / neonatal onset multisystem inflammatory disease syndrome
- chronic recurrent multifocal osteomyelitis
- cyclical neutropenia
- familial Mediterranean fever
- hyper-immunoglobulin D syndrome
- monogenic familial chillblain lupus
- Muckle–Wells syndrome
- non-infectious uveitis, including retinal vasculitis with or without systemic autoimmune disease
- periodic fever with aphthous stomatitis, pharyngitis, and adenitis syndrome
- related interferonopathies
- tumour necrosis alpha receptor associated periodic syndrome (TRAPS)
- Myopericarditis / Pericarditis
- Polymyalgia rheumatica
- Pyoderma granulomatosis
- Sarcoidosis
- Still disease
PCH
Conditions listed above are rare in paediatrics
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
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
Conditions
- Rare syndromes associated with monoclonal or oligoclonal somatic mutation disorders with inflammatory manifestations:
- Castleman disease / POEMS (polyneuropathy, organomegaly, endocrinopathy, myeloma protein, and skin changes) syndrome
- Gleich syndrome
- hypereosinophillic syndrome (HES)
- idiopathic capillary leak syndrome (Clarkson disease)
- Schnitzler syndrome
- scleromyxedema
- VEXAS (vacuoles, E1 ubiquitin conjugating enzyme, X-chromosome, autoinflammatory, somatic) syndrome
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
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
- Pathogenic mechanisms underlying autoimmune diseases and features
- Pathophysiology, including the cell biology and molecular basis of autoimmune diseases
Immune-based therapies
- Immunomodulatory and immunosuppressive drugs, including:
- azathioprine
- calcineurin inhibitors
- corticosteroids:
- induction regimens
- maintenance and weaning
- management of adverse effects
- cyclophosphamide
- Janus kinase (JAK) inhibitors
- leflunomide
- methotrexate
- mycophenolate
- Intravenous (IV) and subcutaneous immunoglobulin in replacement and immunomodulatory use
- Plasmapheresis
- Spectrum, including age-related issues
- Therapeutic monoclonal antibodies, cytokines, soluble receptors, and other biological agents used for the modulation of immune and inflammatory responses, such as:
- anti-CD20 monoclonal antibodies
- complement inhibitors
- tumour necrosis factor-alpha / interleukin-1 antagonists
Investigations
- Antibodies associated with organ-specific autoimmune diseases, such as:
- antiparietal cell antibodies
- coeliac antibodies
- Antineutrophil cytoplasmic antibodies (ANCA)
- Antinuclear antibodies (ANA)
- Anti-citrullinated protein antibodies
- Anti-double-stranded deoxyribonucleic acid (dsDNA)
- Anti-phospholipid antibodies
- Cerebrospinal fluid (CSF) and serum antibodies in:
- autoimmune encephalitis
- myelin oligodendrocyte glycoprotein antibody disease (MOGAD)
- neuromyelitis optica spectrum disorder (NMOSD)
- C-reactive protein (CRP)
- Cryoglobulins
- Erythrocyte sedimentation rate (ESR)
- Extractable nuclear antigen antibodies (ENA)
- Lung volumes and diffusing lung capacity output (DLCO)
- Myositis-associated / Myositis-specific antibodies
- Rheumatoid factor
- Schirmer test
- Serum:
- angiotensin-converting enzyme (ACE)
- complement
- immunoglobulins and immunoglobulin G subclasses
- Uncomplicated skin biopsies
- Urinary sediment
- Differentiate between diagnostic investigations and disease monitoring investigations
- Long-term clinical management
- Prevention of disease related to morbidity, such as cardiovascular disease, and relevant lifestyle modification
- Recognising disease remission
- Transitional care