Presentations
- Multisystem inflammation
- Persistent / recurrent fever
- Skin involvement
Conditions
- Interferon-mediated syndromes:
- Aicardi–Goutières syndrome
- monogenic lupus
- proteosome-associated auto-inflammatory syndrome (PRAAS)
- stimulator of interferon genes (STING)-associated vasculitis of infancy (SAVI)
- Interleukin-1 (IL-1)-mediated syndromes:
- cryopyrin-associated periodic syndrome (CAPS)
- familial Mediterranean fever (FMF)
- mevalonate kinase deficiency (MVK Def)
- pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA)
- tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS)
- Polygenic auto-inflammatory diseases:
- Behcet disease
- chronic non-infectious osteomyelitis (CNO)
- periodic fever, aphthous ulceration, pharyngitis, and adenitis syndrome (PFAPA)
- synovitis acne, pustulosis, hyperostosis, and osteitis syndrome (SAPHO)
- systemic-onset juvenile idiopathic arthritis (JIA) / Still 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
Conditions
- Amyloidosis
- Blau syndrome
- Deficiency of interleukin-1 receptor antagonist (DIRA)
- Immunoglobulin G4 (IgG4) disease
- Majeed syndrome
- Sarcoidosis
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
Epidemiology
- Difference between ethnic groups
- Male to female ratio
Pathophysiology
- Gain of function mutations
- Interlukin-1 and interferon pathways
- Role of the inflammasome in autoinflammatory disease
Pharmacological treatment of autoinflammatory diseases
- Drug interactions, safety monitoring, and side effect profiles for medications used in the treatment of autoinflammatory diseases, such as:
- biological disease-modifying antirheumatic drugs (bDMARD) that target:
- interleukin-1
- interleukin-6
- tumour necrosis factor (TNF)
- colchicine
- corticosteroids
- Janus kinase inhibitors
- non-steroidal anti-inflammatory drugs
Clinical assessment and disease scoring tools
- Diagnostic criteria
- Disease activity measures that may apply to individual diseases, such as the Autoinflammatory Diseases Activity Index (AIDAI)
- Genetic testing
- Targeted and whole exome studies, as well as other techniques
Investigations
- Biochemical analysis:
- ferritin
- liver function tests
- urea and electrolytes
- Haematological markers:
- clotting studies, including lupus anticoagulant
- complete blood count
- Inflammatory markers:
- C-reactive protein (CRP)
- erythrocyte sedimentation rate (ESR)
- ferritin
- serum amyloid A
- serum immunoglobulin G (IgG) subclasses
- Imaging, such as:
- angiography, including:
- CT
- MRI
- PET
- radionucleotide studies
- ultrasound
- x-ray
- Other investigations:
- echocardiography
- lung function testing
- Urinalysis:
- B2-microglobulin
- mevalonic aciduria
- protein and albumin – creatinine ratio
Procedures
- Biopsy of specific organs
- Rapid advancements in genetics, and their applicability to new syndromes
Outcomes and long-term monitoring
- Amyloidosis risk
- Other organ-specific outcomes:
- cardiovascular
- central nervous system (CNS)
- eyes
- joints
- kidney
- lung
- skin
