Juvenile idiopathic arthritis (JIA)
This is a group of different types of arthritis, listed below.
This illness affects 1 in 100,000 children. Arthritis may be mild or chronic and organs can be involved. A patient can have fevers and a salmon pink rash. Patients are often treated with NSAIDs, but other medication, such as methotrexate are also used. Rehabilitation, including physiotherapy and occupational therapy, are essential. Fifty percent of patients enter remission in the first few years with or without permanent joint damage. If the disease is long-lasting, there is a risk of progressive joint destruction. Growth failure and osteoporosis occur in many patients and secondary amyloidosis in some patients.
This illness affects 1 in 25,000 children. Arthritis is found in five or more joints at onset and affects both large and small joint. Up to 50% of patients have some risk of chronic anterior uveitis. NSAID therapy and joint injections with corticosteroids are required in most patients and methotrexate and etanercept may also be needed. Physiotherapy and occupational therapy is mandatory and podiatry may be important. Fifty percent of patients go into remission between two and ten years after onset. The remainder continue with disease activity into adult years, with variable severity.
~Polyarticular onset: rheumatoid factor positive JIA
This illness affects 1 in 100,000 children. This disease usually manifests in children over eight years old and is more common in females. Associated with the presence of nodules, vasculitis and severe progressive, destructive disease in many if untreated. Symmetrical polyarthritis typically involves fingers, wrists, knees and feet in early years, progressing to most joints later. The treatment is similar to rheumatoid factor negative polyarthritis above, but earlier intervention with disease-modifying anti-rheumatic drugs (DMARDs) is necessary. Steroids are required in a number of patients, especially with vasculitis. Physiotherapy is mandatory to maintain joint function. The disease may remit in later teenage years, but it remains active in many. It is likely to be destructive unless treated early. In some patients, progression occurs despite treatment.
This is the commonest type of JIA occurring in 1 in 15,000 children. It is most common in females and has an onset between one and five years of age, with a peak age of onset at three years. The disease involves four or fewer joints and patients are frequently ANA positive. This brings an increased risk of developing anterior uveitis. The arthritis is usually asymmetric and affects the large joints and lower limbs, including knees and ankles. In up to 25% of cases the disease may extend to multiple joints after the first six months and pursue a course identical to Polyarticular JIA (this is referred to as extended oligoarthritis with a greater of joint destruction leading to loss of function). The arthritis is treated with NSAIDs, intermittent joint aspiration, corticosteroid injection and, methotrexate. The arthritis can lead to significant bony overgrowth in the affected joints causing, for example, leg length discrepancies and angular deformity, which may require surgery to correct, if not treated early. The vast majority of patients go into remission in late childhood, but the disease can persist, or recur, in adult life.
Formerly known as juvenile onset spondyloarthropathy, or juvenile ankylosing spondylitis. This disease usually occurs in males older than eight yours old and affects 1 in 100,000 children. It predominantly manifests as a lower limb, large joint, asymmetric arthritis. An acute painful anterior uveitis occurs. Enthesitis is typical and often very painful. Spinal and sacroiliac involvement is uncommon in childhood, but may occur in the teenage years, or adult life in some patients. The arthritis may progress to become very destructive. A family history is common. This is treated in the same way as oligoarticular arthritis, with the additional consideration that anti-TNF therapy is particularly beneficial for spinal and sacral–iliac inflammation. Physiotherapy and occupational therapy input are critical. In many patients the disease persists, or recurs intermittently into adult years. In some, remission occurs in late childhood.
This affects fewer than 1 in 100,000 children. Arthritis associated with psoriasis can closely mimic oligoarticular or polyarticular JIA. Dactylitis is characteristic. Nail pitting and the characteristic psoriatic rash (or a family history of this) are typical, although they may occur many years after the onset of arthritis and only be prominent in first-degree relatives. Joint destruction may occur in some patients. Some children get anterior uveitis. Psoriatic arthritis is treated in the same way as oligoarticular arthritis. Remission may occur in late childhood, but the disease persists in some patients.
***Arthritis associated with other chronic diseases
Inflammatory bowel disease is accompanied by arthritis in 10–20% of IBD patients with ulcerative colitis or Crohn's disease. Cystic fibrosis is accompanied by arthritis in 5 and 10% of patients. Immunodeficiency may occur, in fact, both humoral and cellular deficiency syndromes may be associated with inflammatory arthritis. Other associated syndromes include Down and Turner syndromes and velocardiofacial (22q deletion).
This illness affects fewer than 1 in 200,000 children per year. It may occur as a progressive form with widespread skin and internal organ involvement, or in a limited form with oesophageal involvement and skin changes limited to more distal extremities. Skin changes are typical on the face and limbs and joint contractures, are common. Involvement of the kidneys and lungs may be life-threatening. Treatment consists of local skin softening treatments and systemic treatment with steroids and immunosuppressives, although the disease may be unresponsive in some patients. Boseutan and ACE inhibitors, for cardiopulmonary and renal disease respectively, have improved the prognosis. Mortality is 5–10% during childhood, but this is improved with early treatment of complications.
This illness affects fewer than 1 in 200,000 children per year. It appears as linear scleroderma, usually affecting one or more limbs, or the face (en coup de sabre), or trunk. Morphoea appears as round, or oval, patches of indurated, hyper-, or hypo-pigmented skin. The en coup de sabre lesion may be associated with uveitis and cerebral involvement (seizures). Patients may also have contractures of joints. More severe symptoms include thickening of superficial skin, loss of subcutaneous tissue, deformity of long bones, and failure of limb growth. No definite therapy is successful, but steroids and methotrexate may lead to considerable improvement. Physiotherapy is essential to improve function. This disease is often active for five to six years, but can be unrelenting.
Fewer than 1 in 200,000 children per year are affected by Juvenile Dermatomyositis. This disease has an onset between four and ten years of age. Diagnosis is based on clinical features, muscle enzyme elevation, abnormal electromyogram (EMG), magnetic resonance imaging (MRI) findings and characteristic muscle biopsy appearances. Progressive proximal weakness of hip, shoulder, trunk and neck muscles, associated with painful, tender, or swollen muscles and subcutaneous tissue, is typical. Most children have an erythematous, scaly rash affecting the eyelids, which may look ‘bluish’ (heliotrope) and be associated with periorbital oedema. The skin on fingers, elbows and knees is typically involved showing Gottrons papules. Palatal and oesophageal involvement causes dysphagia and dysphonia. Gut involvement and other organ involvement may occur. Respiratory muscle weakness occurs rarely, but may cause respiratory failure. Skin ulceration can also occur. Gastrointestinal vasculopathy with perforation may also occur.
Disease activity is monitored clinically, biochemically and with MRI, or ultrasound. Treatment is with high-dose steroids (initially injected, then oral). Many require methotrexate, cyclosporin, or cyclophosphamide. Physiotherapy and occupational therapy are essential. Hydroxychloroquine, or mepacrine, may be useful for a persistent severe rash. If untreated, muscle weakness may spread to thoracic muscles and lead to respiratory failure. Late treatment may be associated with permanent loss of muscle bulk and contractures. Calcinosis of the skin and subcutaneous tissues may occur, usually later in the disease and be ulcerating and disfiguring. One third resolve within two to three years, one third resolve within six years, and one third persist longer. Mortally occurs in 1–5% of cases.
This illness affects 1 in 33,500 in the UK, but 1 in 700 in Japan. This is distinct from infantile polyarteritis nodosa and includes fever, lymphadenopathy, conjunctival injection, oral mucosal/labial inflammation, together with distal extremity swelling, oedema and late desquamation of fingers and toes. Coronary artery involvement can occur in 10–25% of patients, although early treatment usually prevents this. Arthritis, aseptic meningitis and other organ involvement may occur. Intravenous immunoglobulin is given for the first ten days, together with high-dose oral aspirin. Corticosteroids are used in relapsing cases. This disease responds very well to early treatment, but coronary artery involvement may lead to aneurysm, thrombosis or stenosis. Premature ischaemic heart disease can occur.
This illness affects fewer than 1 in 200,000 and is more common in males than females. The average age of onset is five to seven years old and can be insidious with malaise and fever of unknown origin. Common features are persistent fever, variable vasculitic skin lesions including livedo reticularis, purpura or ulcers, abdominal pain and arthritis. Renal involvement, with proteinuria and haematuria, is typical. Aneurysms of medium size vessels (renal and gut) occur and are characteristic. Exclusive skin involvement is seen in cutaneous polyarteritis nodosa. Steroids and cyclophosphamide are necessary. Plasma exchange or prostaglandin analogues may be tried. Azathioprine and cyclosporin may be tried later. The disease may be recurrent, rather than monophasic, with a 20% mortality rate.
Other vasculitides include microscopic polyangiitis, Wegener’s granulomatosis, Takayasu’s arteritis, cerebral angiitis, hypersensitivity angiitis (urticarial vasculitis) can occur in children, though all are rare and treatment usually involves steroids and/or immunosuppressive agents.
**Mixed connective tissue disease
This affects mostly girls at a rate of 1 in 50,000 children per year. This present with a mixture of features, largely systemic lupus erythematosus, dermatomyositis and scleroderma. Generally, features are milder, with renal and central nervous system involvement being absent or late. Usually ANA positive and ENA positive with RNP antibodies characteristic. Usually treatments used in systemic lupus erythematosus are appropriate.
**Systemic lupus erythematosus
One in 3,000 to 10,000 children are affected per year depending on ethnicity. This disease occurs throughout childhood, although it is rare in children below five years of age. It is most common in females over12 years old. Onset is commonly insidious with fatigue, rash and polyarthritis, but it may be acute with serositis, central nervous system or renal involvement. The typical rash is erythematous, scaling, photosensitive and occurs on the face and in sun exposed sites. Discoid lesions may occur.
This is an episodic, multisystem autoimmune disease with widespread inflammation of blood vessels and connective tissues. The skin involvement may result in malar rash, discoid rash, vasculitis and/or photosensitivity. Arthritis is polyarticular and painful, but rarely destructive. Suspected renal involvement can be defined by urinary albumin/creatinine ratio, serum creatinine GFR, and renal biopsy.
Central nervous system involvement may manifest as seizures, chorea, depression, or cognitive changes. MRI findings may be supportive. ANA are found in virtually all patients, and in >80% antibodies to dsDNA are found. Patients with only anticardiolipin antibodies and thromboses, or recurrent abortions, have the primary antiphospholipid syndrome. Central nervous system and/or renal disease are treated with azathioprine or cyclophosphamide and high-dose steroids. Otherwise, treatment with hydroxychloroquine, low dose steroids and NSAIDs is appropriate. Anti-platelet treatment with aspirin can be required and patients with thrombosis require warfarin treatment. Significan t morbidity can occur in patients with central nervous system and renal involvement. Others patients experience long periods of good disease control, or remission.
**Overlap connective tissue disease
This affects mostly females and is very uncommon, 1 in 50,000 to 100,000. Some patients develop clinical features of two different connective tissue diseases at the same time, or in progression, such as juvenile idiopathic arthritis and systemic lupus erythematosus; juvenile idiopathic arthritis and dermatomyositis; Dermatomyositis and scleroderma. Patients are often ANA positive. Occasionally, patients will have moderate features of a number of disorders, but insufficient to fulfil any diagnosis; often termed undifferentiated connective tissue disease.
~Chronic infantile neurological cutaneous and articular syndrome
This is an incredibly rare disease affecting fewer than 1 in 500,000 children. The disease manifests as three clinical symptoms, similar to systemic juvenile idiopathic arthritis that present neonatally; A non-pruritic persistent urticarial rash in 75% of patients at birth; Joint involvement in 50% of patients in the first year; Central nervous system involvement, including aseptic meningitis, seizures, uveitis, papillitis, optic atrophy, low IQ and sensory anomalies.
Saddle nose deformity is seen early, with typical facies, such as frontal bossing and there may be progressive growth retardation. Abnormalities on X-ray include flared, irregular, cupped metaphyses and large, irregular, fragmented epiphyses. Investigations show a low haemoglobin, raised white blood count, raised ESR, raised immunoglobulins, raised CSF white cell count and/or protein and genetic testing reveals mutations in the CIAS1 gene in 50% of cases. NSAIDs help to deal with the pain. Steroids and immunosuppressants may help fever and pain, but can have little effect on skin lesions, joints, or the central nervous system. This is now replaced by treatment with anakinra. This disease manifests in a chronic course, with frequent relapses. Fever, lymphadenopathy, enlarged spleen, severe developmental delay and significant mortality are seen.
~Chronic recurrent multifocal osteomyelitis
This disease affects fewer than 1 in 200,000 children and presents with bone or joint pain, swelling and fever. Pain is metaphyseal, joints are usually normal, with the tibia as the most common site. X-rays show osteolytic lesions in the metaphysis, osteitis and new bone formation. A bone scan is often helpful. Biopsy shows chronic inflammation consistent with osteomyelitis. Cultures are negative. Antibiotics usually have no effect, NSAIDs may improve symptoms and steroids may help resolve persistent lesions. The child will enter spontaneous remissions with periodic, painful relapses. Bony overgrowth, or loss of growth, may cause leg length discrepancy, or joint deformity. Occasionally, the patient has palmar plantar pustulosis and acne associated with arthritis and hyperostosis.
~Periodic fever syndromes
Familial mediterranean fever
This illness is uncommon, except in Sephardic Jews (1 in 700 compared with fewer than 1 in 100,000 in other races), Turkish and Cypriot populations. This disease is particularly seen in the Middle East and Mediterranean countries. This is a genetic, autosomal, recessive condition. Onset of the disease is usually between the ages of one and five years of age, with acute attacks of fever, peritonitis, arthritis and pleuritis. The attacks may occur frequently, or irregularly, with periods of remission. Rash, orchitis and pericarditis are seen less commonly. The arthritis may be chronic and destructive in some patients. Secondary amyloidosis occurs with significant morbidity and mortality. Colchicine is given for acute attacks and as a preventative measure and. NSAIDs and occasionally steroids may be required.
~Other genetic periodic fevers
TNF receptor associated periodic syndrome causes recurrent fever, rash and arthritis from early childhood. A family history is common and amyloidosis may occur. Treatment with etanacept is effective. Hyper IgD syndrome causes recurrent fever, rash, abdominal pain and joint symptoms from early childhood. The prognosis is usually good, but frequent attacks in childhood may cause serious morbidity. Early reports of treatment with anakinra.
**Chronic pain syndrome
Both localized and diffuse chronic pain syndromes occur in childhood. More definable forms include reflex sympathetic dystrophy, fibromyalgia, myalgic encephalitis, chronic fatigue syndrome and post-viral fatigue syndrome. All of these conditions have major psychological components, which are either aetiological or result from the inciting illness. Psychological intervention and physiotherapy are mandatory in these conditions.
~Reflex sympathetic dystrophy
This affects predominantly females over eight years of age and has a frequency of less than 1 in 50,000 children. This is thought to be an exaggerated response to minor trauma or other localized minor pathology with psychosocial features. Alterations in skin temperature, soft tissue swelling, sweating, oedema and dysaesthesia occur with pseudoparalysis, severe spontaneous pain, and pain on weight bearing. Atrophy of skin and bone may occur over time, if untreated. Bone scans may show increased or reduced uptake and X-rays, osteoporosis with long-standing disease. Intensive physiotherapy and psychological input are essential. Inpatient treatment is often required. Sympathetic blocks are rarely required in children. Most patients improve significantly with early treatment, but recurrences do happen. Delay in diagnosis is associated with considerable prolonged morbidity and disability.
~Benign joint hypermobility syndrome
Children with benign joint hypermobility syndrome have a greater range of normal joint mobility than adults, but 5–10% have either localized, or generalized, hypermobility, up to 10% of which becomes symptomatic. Specific genetic syndromes, such as marfan syndrome, or Ehlers-Danlos syndrome, cause more severe joint problems. The joints usually affected and symptomatic are knees, ankles, elbows and wrists. Recurrent minor ‘sprain’ injuries, or more serious subluxation/dislocation, lead to recurrent arthralgias and occasional joint effusions. Growing pains are commonly related to hypermobility. Adolescents may present with back pain.
Many persist with various symptoms into adult life. Psychosocial issues may predispose patients to chronicity, or poor response to treatment and morbidity. Treatment involves physiotherapy/hydrotherapy with specific muscle strengthening and joint protection measures, such as supportive shoes and insoles and activity modifications are often required. Function is usually maintained with physiotherapy/hydrotherapy and many patients improve with age.www.LupusMCTD.com
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