Paediatric Rheumatology - UCD

Paediatric Rheumatology Derek Deely RANP (Children’s Rheumatology) Aims & learning objectives  Overview of juvenile idiopathic arthritis  Treatment  ANP role/nursing care in patient management  Overview of other paediatric rheumatology diseases Overview of Rheumatology disorde...

Paediatric Rheumatology Derek Deely RANP (Children’s Rheumatology) Aims & learning objectives  Overview of juvenile idiopathic arthritis  Treatment  ANP role/nursing care in patient management  Overview of other paediatric rheumatology diseases Overview of Rheumatology disorders  Juvenile idiopathic arthritis (JIA)  Systemic lupus erythematosus (SLE)  Juvenile dermatomyositis (JDM)  Chronic non-bacterial osteomyelitis  Vasculidities  Uveitis  Auto-inflammatory disorders – NOMID/CINCA/FMF/TRAPS/Behcets  Hypermobility spectrum disorders  Pain Amplification/Chronic pain syndromes Rheumatology We rely heavily on…  Phlebotomy  Ophthalmology  Radiology  MDU  SDU  St. Michaels  School  Play Specialists  Hydrotherapy (HX) Rheumatology As well as...  Dermatology  Pharmacy/ACU  Haem/Onc Day unit  Immunology  OPD  Orthopedics'  Admissions  Plus many, many more  Juvenile Idiopathic Arthritis (JIA) JIA (Diagnosis of Exclusion) – Juvenile Onset before the age of 16 years – Idiopathic Unknown aetiology – Arthritis Inflammation of joint synovium; Symptoms > 6 weeks Seven Subtypes (ILAR, 2001)  JIA Incidence Worldwide incidence and prevalence of Chronic childhood arthritis are unknown. Epidemiological studies have reported a wide variance in different regions of the world with low rates in Asian populations and higher rates in those of European decent. There is an overall trend that the incidence rate is increasing but it is unclear if this is because of increased awareness of JIA or actual increase of the disease (Al-Mayouf et al., 2021).  Rheumatology JIA incidence in Ireland Incidence is approx. 1/10,000 yearly in Ireland It can begin at any age, although it is most common in younger children and while it can develop in both boys and girls, most types are more common in girls (Arthritis Ireland, 2021).  Rheumatology Aetiology of JIA Environmental factors, including infectious agents, vaccinations, antibiotics, vitamin D deficiency, stress and trauma have been proposed as risk factors. Infectious viruses (Epstein-Barr virus, Parvovirus B, Rubivirus, Hepatitis B virus) Bacteria (Salmonella spp., Shigella spp., Campylobacter spp., S. pyogenes, B. henselae, M. pneumoniae, Chlamydophila pneumonia) have been reported as causal factors provoking JIA (Zaripova et al., 2021)  JIA Oligoarticular (persistent/extended) Polyarticular RF - ve Polyarticular RF +ve Systemic onset JIA Psoriatic arthritis Enthesitis related arthritis Undifferentiated JIA ILAR Edmonton (2001)  Oligoarticular JIA Oligoarticular arthritis is arthritis which affects between 1-4 joints in the first 6 months of illness (Oligo means few) This is the most common type of arthritis If the child never has more than 4 joints affected throughout their childhood it’s called ‘Persistent Oligoarticular arthritis’ If the disease spreads to more joints after the first 6 months it is called ‘Extended-oligo JIA’ Oligoarticular arthritis is more common in girls under 5 and usually affects the knee, ankle and wrist joints (other joints can be affected)  Oligoarticular arthritis/OJIA  This group have the best chance of disease burning out but are most at risk of developing a complication of JIA called uveitis  2.Polyarticular JIA  Arthritis which affects more than 4 joints in the first 6 months (Poly = many)  About 1 in 5 children with Arthritis has PJIA  It’s the 2nd most common type and affects girls more than boys  This group is further divided into 2 groups Rheumatoid Factor (RH) positive and negative (blood test for this)  Clinical Course  Progressive joint involvement  Tends to have symmetric joint involvement  Large joints initially, small joints later RF Positive  1 in 10 will be RF +  RF + ve disease more aggressive  RF Positive:  Girls > 10yrs are more frequently RF +  Erosive with course similar to adult RA  Systemic features possible  These children can have a severe form of disease which needs active treatment to avoid joint damage Systemic onset Juvenile Idiopathic Arthritis/SOJIA  1in 10 children with Arthritis have SOJIA  It can affect the many parts of the body other than the joints including heart, lungs, skin etc.  It occurs in both girls = boys, frequently  Systemic onset JIA/SOJIA seen in under 5’s  Difficult to diagnose.  The patient may be sick for some time before diagnosis, can be confused with measles, leukaemia & meningitis  It is a diagnosis of exclusion  SOJIA Diagnosis:  Arthritis with or preceded by a fever of 2 weeks + any 1 of the following:  Rash  Adenopathy – enlarged lymph nodes  Serositis – enlarged linings of the lungs, heart, abdomen  Hepatomegaly/splenomegaly  Systemic JIA  Role of Cytokines and cells of innate immune response (IL1, IL6, TNF)  Considered an auto-inflammatory disease  Over 40% monocyclic course  Over 50% active disease into adulthood  Systemic features typically subside  Mortality risk - MAS Rheumatology Macrophage Activation Syndrome (MAS)  Cytokine “STORM”  SoJIA, SLE, CTD, drug related, infection?  High morbidity/mortality  Onset or periods of very active disease  Rapid development of unremitting fever,  Hepatosplenomegaly, Purpura, DIC, Encephalopathy.  Mortality 10-20% Psoriatic Juvenile Idiopathic Arthritis  Arthritis associated with psoriasis can occur before the child has ever had psoriasis of the skin  If a first degree relative (parent) has psoriasis this can suggest this type of Juvenile Arthritis.  It is more common in girls than boys at around 8-9 years of age  Signs of psoriasis can be seen in the fingernails and toenails ,often arthritis only effects fingers and toes but can effect other joints.   Usually affects boys over 8 but can affect girls  Swelling at the point where tendons attach to bones (enthesitis). Affects lower limbs,  Enthesitis related arthritis / ERA hips, knees, ankles, & sacroiliac joints.  3 in 4 children with ERA carry a particular marker HLA-B27 gene. A few children with ERA develop a condition called Ankylosing Spondylitis as adults. 20 How is JIA Diagnosed?  Clinical history & examination  Blood tests  MRI (Gold standard)  Ultrasound  X-rays Rheumatology Diagnosis of JIA  JIA is a diagnosis of exclusion - based on medical history and clinical examination  Infectious Screen – ASO/ASOT, Mycoplasma, EBV, CMV, Lyme, quantiferon  Must have arthritis for 6 weeks or more (TB).. before diagnosis can be made  Imaging – Plain film x-rays of affected joints  Investigations/work-up include: plus chest x-ray  Bloods – FBC, U&E, LFT’s, Inflammatory  Ultrasound markers (ESR, CRP, Ferritin, Serum  MRI (with gadolinium) - Gold Standard Amyloid), Rheumatoid factor, Autoimmune  May require systemic work-up – PFT’s, Screen (ANA, ENA, dsDNA, ANCA – now ECG/ECHO, urines, CT known as ‘CTD’).  Consequences of JIA Growth disturbances – local & generalised Limb-length discrepancies Osteopenia Functional disability: - ↑ Pain - ↓ QOL - ↑ Psychosocial issues - ↑ Unemployment  Treatment (Stoll & Cron, 2014) Treatment Aims Treatment Approach Early & aggressive NSAID ↓ Inflammation Steroids/IAI ↓ Pain Prevent/limit deformities DMARD MDT Prevent/limit erosions Biologic HSCT NSAIDs Biologics Ibuprofen Etanercept Naproxen Adalmiumab Diclofenac Tocilizumab Feldine Infliximab Nabumetone Golimumab Rituximab DMARDS Anakinra Methotrexate Secukinumab Hydroxychloriqunie Ustekinumab Azathioprine JAK Inhibitors Tofacitinib  The role of the RANP (Children’s Rheumatology) Review patients on DMARDs and/or biologic therapies frequently using a treat to target approach resulting in better disease control, prevention of joint restrictions and damage, prevention of co-morbidities, lower disease activity and increased health related quality of life. Allowing timely access to necessary procedures such as intra-articular injections (IAI) under general anaesthesia (GA) through regular review clinics ensuring patients are prioritised through clinical need. This will allow for better outcomes and a reduction in waiting times for IAI under GA. The RANP clinics will focus on the transition of adolescents and young adults with chronic rheumatic diseases as they move from paediatric to adult orientated health care settings.  SLE is a systemic multisystem autoimmune disease characterised by the presence of autoantibodies and multiorgan system involvement. Antinuclear antibodies (ANAs) are present in >90% of patients with SLE, most of whom have specific autoantibodies. The clinical presentation is very diverse ranging from mild to severe life-threatening. It is characterised by flares and remission. Epidemiology Childhood-onset SLE is a rare disease with an incidence of 0.3-0.9 per 100,000 Prevalence of 3.3-8.8 per 100,000 children. A higher frequency of cSLE is reported in Asians, African American, Hispanics and native Americans Most studies report a median age of onset of cSLE between 11-12 years; the disease is quite rare under the age of 5 years. As in adult onset SLE, approximately 80% of patients with cSLE are female. Aetiology & Pathogenesis SLE is due to a combination of genetic susceptibility and environmental factors including exposure to: Ultraviolet radiation, particular UV-B rays Viral infections; herpes, EBV Drugs & chemicals; Isoniazid, TNF inhibitors, minocycline Immunological abnormalities involving both innate and adaptive immune systems Apoptosis and abnormal cell death Clinical Features Children & adolescents with SLE frequently present with fever, fatigue, diffuse hair loss, weight loss, arthralgia, lymphadenopathy and hepatosplenomegaly in addition to specific organ involvement Mucocutaneous, musculoskeletal and kidney disease are the most common manifestations of childhood SLE. Mucocutaneous The hallmark of SLE is the malar, or butterfly rash. The rash is seen in 60 - 85% of children with SLE, is generally described as erythematous, raised, non-pruritic, and non-scarring. The rash often extends over the nasal bridge, affects the chin and ears, but spares the nasolabial folds. It is photosensitive in more than a third of patients, and exacerbation of the photosensitive rash frequently heralds the onset of a systemic flare. Therefore, sunscreen with a high sun protection factor, as well as hats and protective clothing are recommended year-round for all individuals with SLE.  Discoid rash, unlike in adult-onset SLE, is a rare manifestation of cSLE, occurring in fewer than 10% of patients. This scarring rash most frequently occurs on the forehead and scalp, and its scaly appearance may be mistaken as a tinea lesion. Children and adolescents with SLE can develop a rash of (almost) any morphology, location and distribution, often presenting a diagnostic challenge. Non-scarring hair loss is common, but not specific for SLE. The alopecia is most often noted as thinning of the temporal areas of the scalp, although rarely it is more global and severe enough to require systemic immunosuppressive therapy. Symptoms… Raynauds Phenomenon-fingers go white then blue on exposure to cold. Hair loss, which grows back after an attack is controlled. Aches and pains ,affecting joints, muscles and ligaments. Lining of lungs and heart are most frequently affected.  Depression, disturbances of normal thought process –hallucinations, unusual behaviour, migraines, seizures. Lupus Nephritis Treatment The care of a child or adolescent with SLE requires a multidisciplinary approach, and ideally involves rheumatology, dermatology, nephrology (for any patient with renal disease), psychiatry and psychology, nursing, social work, physiotherapy and occupational therapy. UVA/UVB Sun Protection Oral and intravenous corticosteroids remain the backbone of most therapeutic regimens, and are most effective for rapid disease control. More than 90% of all cSLE patients will receive corticosteroids at some point in their disease course The dose and duration of corticosteroid depends on the active manifestation being treated. The anti-malarial, hydroxychloroquine (plaquenil), is a staple for the treatment of mild symptoms particularly rash and arthritis, and for disease maintenance therapy. Non-steroidal anti-inflammatory drugs (NSAIDs) are prescribed primarily for musculoskeletal symptoms, and may also be used for serositis.  Methotrexate is predominantly prescribed for persistent arthritis in the absence of other systemic features Azathioprine (imuran) is also effective for arthritis as well as vasculitic rash, cytopenias or serositis. Mycophenolate mofetil (cellcept) is frequently used for the induction of remission in lupus nephritis, and for the maintenance of other significant organ manifestations.  Cyclophosphamide (cytoxan), is used for the most severe and life threatening symptoms because of its risk for toxicities including infertility, infection and long-term risk of cancer. It is prescribed for severe neuropsychiatric lupus syndromes (psychosis, acute confusional state) and in some cases for renal disease Rituximab (rituxan), a monoclonal antibody that binds and kills active B cells is effective for the treatment of cytopenias, Long term outlook With longer survival there has been an increase in long term co- morbidities including: Premature athersosclerosis and cardiovascular disease Dialysis/renal transplant Osteoporosis leading to increased bone fragility and fracture risk Infection Malignancy, particularly lymphoma Juvenile Dermatomyositis (JDM) Juvenile dermatomyositis is an inflammatory disease of the muscle (myositis), skin and blood vessels that affects about 3 in 1 million children each year. The cause is unknown. The symptoms of JDM include muscle weakness and skin rash. Patients with JDM develop weakness in the large muscles around the neck, shoulders and hips. This causes difficulty in climbing stairs, getting into cars, getting up from a chair or off the floor, or brushing hair. Patients with JDM have varying symptoms. They range from minimal muscle weakness, including falling when running and having to turn over to get out of bed, to not being able to swallow and changes in the voice. Patients can also have skin rashes that range from mild redness to severe ulcers. Hypermobility/BHS/EDS/HMSD Joint hypermobility means that some or all of the joints have an unusually large range of movement. People with hypermobility are particularly supple and able to move their limbs into positions that other people find impossible. Many people with hypermobile joints do not have any problems and do not need treatment. However, joint hypermobility can sometimes cause unpleasant symptoms, such as: joint pains dislocated joints - when the joint comes out if its correct position soft tissue injuries, such as tenosynovitis (inflammation of the protective sheath around a tendon) If hypermobility causes these types of symptoms it is often called joint hypermobility syndrome. Chronic pain Pain lasting longer than 3-6 months Called fibromyalgia in adults – not used in children/young people as symptoms can resolve Approach is MDT such as intensive hydrotherapy and physiotherapy, occupational therapy and psychology – analgesics such as morphine usually have no effect Transition and Young Adult Services What is adolescence? A variable period between childhood and adulthood characterised by rapid development and change in the psychological, social and biological domains. Should not be limited by an age criterion It’s “a stage, not an age” Definitions of adolescence: World Health Organisation 10-19 years United Nations (Youth) 15-24 years American Academy of Pediatrics 14-19 years UK National Service Framework for Children; Young People & Maternity Services Up to 19 years European union (Youth) 15-25 years What is a normal adolescent? Healthiest period in one’s life Period of immense change Life-changing events and ‘watersheds’ Normal development in adolescent brain: Pre-fontal cortex not fully developed until early 20s’ - ‘Executive suite’ - Calibration risk/reward - Problem solving - Thinking ahead - Self-evaluation - Long-term planning - Regulation of emotion The teenage brain More impulsive Readily swayed by their peers Less likely to consider the consequences of their actions Adolescence and chronic illness Emergence of chronic illness during adolescence may have a “devastating effect” May have a negative impact on nearly all of the four main domains: 1. Attainment of physical maturity 2. Development of autonomy and separation from parents 3. Sexual identity and the formation of relationships 4. Preparing for a productive place in society Why chronic illness is particularly untimely during adolescence… Interference of disease with pubertal/physical development Illness or drug-dependent alterations of appearance at a time of increased fear of rejection Being different from friends at a time of maximum desire for conformity Increased dependence on parents at a time of expected stepwise separation Being obliged to follow a rigid therapeutic discipline at a time of impulsiveness Being dependent on adult counsellors at a time of heightened scepticism towards the adult world The impact of chronic illness on young people… Chronic illness associated with higher school absence and lower educational attainment. But, widespread evidence that children with a chronic illness are at increased risk of emotional and behavioural problems. Chronic illness also associated with higher levels of bullying. In rheumatology… It was once believed the JIA was exclusively a disease in which children were only affected and “burnt-out” prior to adulthood (Hazel et al., 2010). 25% of JIA patients first present during teenage years. 40-70% of patients with JIA will continue to have ongoing active disease into adulthood (McHale & Killeen, 2011). Transition in Healthcare Transition in healthcare… A young person centred process that addresses the medical, psychosocial and vocational issues during the move from child centred to adult orientated healthcare settings Multi-faceted Active process Aims of Transition Provide co-ordinated, uninterrupted healthcare Age appropriate Developmentally appropriate Comprehensive Flexible Promotion of skills in communication, decision-making, assertiveness and self-care Enhance self-control Display independent health behaviours: self-management. What does the research say? Transition is poorly documented and there are unclear or non-existent processes with confusion over roles and responsibilities from staff & patients/carers Patients feel they are passive recipients and accept complications as inevitable Measuring change and identifying relevant transition metrics is challenging Challenges in transition are common across all teams and not specific to clinical areas Teams are enthusiastic about making improvements – but initially lack insight into what changes are required Royal College of Paediatric & Child Health (2014) What does the research say? Successful transition is often associated with specialist areas Structured process Having consistent staff members who know about the conditions and young person’s history Good information about what to expect Good communication between paediatric and adult services Young Adolescents with Rheumatic Diseases Clinic (YARD) Objectives: For adolescents & young people: To provide health care that is uninterrupted, coordinated, developmentally and psychologically appropriate to adolescents and young adults with rheumatic diseases in Ireland. Ensure a planned and seamless transition for adolescents and young adults into adult health care settings. Promote self-management and self-advocacy in order to become independent health users. For parents & carers: To support and assist with the gradual reduction of parental influence by allowing the young person to become more independent in their decisions and choices. For health care professionals: Education of health care professionals on a local and national level about the special health related care needs of adolescents and young adults and the need for transition services in Ireland. Networking with adult colleagues, identification of adult clinicians regionally to co-ordinate future care. Transition topics Tell me about your disease? When diagnosed? What type? How does it affect you? Medications? What do the meds do? Self-medicating? Adherence! What would you do if having a flare? Repeat prescriptions? Pain control? Vaccinations? Goal setting – making appointments, calling the CNS, getting bloods done…  Transition care plan: Discussed Reviewed Accomplished Transition Tick Date Tick Date Tick Date Introduction to clinic & explanation of transition process Introduced to the team Understands the meaning of 'transition' Understands the differences between paediatric and adult health care Know what may happen to condition in adult life Any other comments:  Discussed Reviewed Accomplished Medication: specific disease and medication related factors Tick Date Tick Date Tick Date Knows medication names Knows medication doses Knows meds regime and administers independently Understands what medications are for and side effects Managing own repeat prescriptions/GP appointments Any other comments:  Discussed Reviewed Accomplished General Health: health promotion and secondary prevention Tick Date Tick Date Tick Date Understands importance of exercise Understands need for healthy eating Aware how condition can affect development i.e. Puberty Understands effects of medication on sexual development i.e. Promotion of sexual health Understands the implications of disease/drug therapy on future child- bearing i.e. Medication implications for pregnancy Knows how to access reliable/accurate info. re sexual health Aware of risks associated with alcohol and drugs i.e. general health and specific disease and medication related factors: i.e. prescription, non prescription,,recreational drugs Mental health - affect / interaction Can access GP independently Knows who to talk to when stressed / at difficult times Rheumatology Health promotion: Making every contact count: Disease management NSAID’s – how to use for a flare and appropriate weaning Health Service Non-pharmacological pain management Executive(2022) Methotrexate & biologics re-education – immunosuppressant, vaccines, blood testing, infections, folic acid, sun sensitivity, TB, lymphoma. Adherence to medications and PT/OT Regular uveitis screening Monitoring – tight control Diet, exercise, sexual health, alcohol, drugs, travel, school. Transitioning to Adult services. Rheumatology Bio-psychosocial model of care Tertiary care Multidisciplinary Team Primary care Team Rheumatology Consultant Rheumatology RANP/CNS Paediatrician Rheumatology Physio/Occupational GP Therapy Psychology (Bio-psychosocial model Local of care)(Stinson et al., 2016) Physiotherapy/Occupational Ophthalmology (Regular Therapy Screening)(Angeles-Han et al., 2019) Adult Rheumatology Re: Transition Adult Maxillofacial team References Consolaro, A., Giancane, G., Schiappapietra, B., Davi, S., Calandra, S., Lanni, S. and Ravelli, A. (2016) ‘Clinical outcome measures in juvenile idiopathic arthritis’, Pediatric Rheumatology, 3(8), pp. 1-8. Davies, K., Cleary, G., Foster, H., Hutchinson, E. and Baildam, E. (2010) ‘BSPAR Standards of Care for children and young people with juvenile idiopathic arthritis, Rheumatology, 49(&), pp. 1406-1408. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis, second revision, Edmenton 2001 (2004) The Journal of Rheumatology, 31(2), pp. 390-392. Muller, L., Humphries, P and Rosendahl, K. (2015) ‘The joints in juvenile idiopathic arthritis, Insights into Imaging, 6(3), pp. 275-284. Petty, R., Laxer, R., Lindsey, C. and Wedderburn, L. (2015) Textbook of Paediatric Rheumatology. 7th Edition. Philadelphia: Saunders. Spurr, S., Bally, J., Ogenchuk, M. and Walker, K. D. (2012) ‘A framework for exploring adolescent wellness’, Pediatric Nursing, 38(6), pp. 320-326. Stoll, M. and Cron, R. (2014) ‘Treatment of juvenile idiopathic arthritis: a revolution in care’, Pediatric Rheumatology, 12(13), pp. 1-10. Thank you! Derek Deely [email protected]