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
- 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
Conditions – systemic autoimmune diseases
- Anti-phospholipid antibody syndromes:
- 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:
- 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)
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
