Paediatric Rheumatology

Paediatric rheumatology is a sub-speciality of rheumatology that mainly deals with the diagnosis and treatment of autoimmune disorders, which can affect the bones, muscles, joints, and tendons in children and teenagers. Rheumatic diseases in children are considerably different from those in adults. A child’s body is not just small but is also constantly growing and developing, which in turn means these afflictions will usually differ, and sometimes their diagnostic criteria, treatment, usage, and prognoses will also alter. Symptoms in children may present differently, sometimes subtly, making diagnosis more challenging. For example, a child may suffer overall pain or exhaustion rather than specific joint problems, complicating the diagnosis of illnesses such as juvenile idiopathic arthritis (JIA).

Many children can achieve remission or manage the condition with fewer long-term problems with early management. However, monitoring the condition and its progression and various organ functions requires lifelong attention to ensure that the condition does not jeopardise the child’s general well-being and future health.

Diseases treated under paediatric rheumatology

Many rheumatological conditions that occur in children are treated under paediatric rheumatology. Some of them include:

• Juvenile idiopathic arthritis (JIA): The term juvenile refers to conditions occurring in kids and teens. Juvenile arthritis is common in children, causing joint pain and inflammation, and it may also spread to the eyes, skin, and internal organs. Depending on the joints affected and clinical presentation, JIA is categorised into six subtypes. JIA types are autoimmune or autoinflammatory disorders. This implies that the immune system, which is designed to combat intruders such as bacteria and viruses, becomes confused and assaults the body’s cells and tissues. This leads the body to produce inflammatory chemicals, which damage the synovium (the tissue lining surrounding a joint). An inflamed synovium can make a joint uncomfortable or tender, appear red or swollen, or be difficult to move. 

• Juvenile dermatomyositis: This rare condition in children causes swollen muscles and skin. It can also affect blood vessels and may cause hard lumps under the skin, which is called calcinosis. Children might complain difficulties in climbing stairs, dressing, and combing hair. However, unlike adults, kids with this disease don’t have a higher chance of getting cancer. 

• Lupus: Most cases of lupus in children begin at around 12 years and can continue for a lifelong period. The condition is also known as systemic lupus erythematosus (SLE). This condition is typically characterised by a butterfly-shaped malar rash on the cheeks and nostrils. It is photosensitive in more than one-third of patients, and a worsening of the photosensitive rash often precedes the commencement of a systemic flare. As a result, all individuals with SLE should use sunscreen with a high range of UV protection factors, caps, and protective clothes all year round.

• Kawasaki disease: It is a condition that affects children below 5 years old and involves inflammation of the walls of some blood vessels throughout the body. Most children recover faster if detected early; however, if not promptly diagnosed, it can lead to coronary artery complications.

• Henoch-Schönlein-Purpura (HSP): This is the most common type of vasculitis in children, resulting in inflammation and small blood vessel bleeding. It is an immunoglobulin A mediated systemic small-vessel vasculitis that leads to IgA deposition in vessel walls, which leads to symptoms such as rash, abdominal pain, and kidney problems.

• Juvenile ankylosing spondylitis: It is a type of arthritis that primarily occurs before the age of 16 and mainly affects the lower back, spinal joints, and sacroiliac joints. It can cause long-lasting pain and stiffness in the back and hip. 

• Scleroderma: This group of connective tissue diseases encompasses systemic and localised forms of the disease. Systemic form manifests as skin, vascular, and visceral organ fibrosis, and localised form involves fibrosis of the skin and underlying tissue without vascular or organ involvement. 

• Psoriatic arthritis: This is the type of arthritis that develops in children with a skin condition called psoriasis, which causes red, scaly rashes and thick, pitted fingernails. Psoriasis symptoms are similar to atopic eczema factors such as immunity, genes, and environmental exposure to certain chemicals, which play a significant role in triggering the condition. 

• Rheumatic fever: It is a kind of inflammatory response that develops as a complication of untreated or inadequately treated Group A strep infection (e.g., following a staphylococcal throat infection). It may affect the heart, joints, skin and brain.

• Fibromyalgia: A disorder characterised by widespread musculoskeletal pain and fatigue with localised tenderness. It can also lead to sleep problems and cognitive impairment.

• These conditions require specialised care from paediatric rheumatologists to manage symptoms and improve the quality of life for affected children.

Common symptoms in conditions falling under paediatric rheumatology

Here is the list of symptoms that prompt referral to a paediatric rheumatologist:

• Long-lasting fever 

• Appearance of new skin rash or repeated rash

• Limping, change in gait, or pain in the limbs

• Feeling weak and fatigued due to muscle weakness 

• Joint pains, swelling, or deformities

• High blood pressure in a child 

• Uveitis causing light sensitivity and burring of the eye

• Repeated infections necessitating hospitalisation

• Variations in values of certain parameters in blood tests report indicating inflammation, etc.

   

It is important to seek an opinion from paediatric rheumatology if one is suffering from the above symptoms. A paediatric rheumatologist is a specialised doctor in treating children with conditions that affect their joints, muscles, underlying tissues and bones, such as arthritis and other conditions that lead to inflammation.

Diagnosis

When diagnosing paediatric rheumatology conditions, the paediatric rheumatologist will first talk to you about your child’s health history and perform a physical exam. To better understand your child’s condition, they may advise additional tests, such as blood tests, imaging studies, or tissue samples. Below are some of the common tests used and what they help diagnose:

Blood tests:

• Antinuclear antibody (ANA) test: This test checks for antibodies that attack a child’s own cells, which can be a sign of an autoimmune condition like lupus or juvenile arthritis. A positive ANA test may indicate inflammation or an autoimmune disorder.

• Complete blood count (CBC): This test is used to measure the levels of red blood cells, white blood cells, and platelets in the blood. Low red blood cell counts (anaemia) may signal chronic disease, while high or low white blood cell counts may indicate an infection or immune disorder.

• Creatinine: This test measures the creatinine level, a waste product from the muscles, to see how well the kidneys function. Abnormal levels may indicate kidney problems, which can occur in diseases like lupus.

• Haematocrit: The test measures the percentage of red blood cells in the blood, which helps assess whether the child has anaemia, which can be associated with many chronic diseases.

• Rheumatoid factor test: This test looks for rheumatoid factor, an antibody found in some children with rheumatoid arthritis. However, many children with juvenile arthritis may not have this factor.

• Sedimentation rate (ESR): The ESR measures the time and rate of settlement of red blood cells at the bottom of a test tube. A faster rate can indicate inflammation in the body, which is common in conditions like arthritis or vasculitis.

• White blood cell count: It measures the blood levels of white blood cells. High levels could indicate infection or inflammation, while low levels may be a sign of a weakened immune system or an autoimmune disease.

Other tests:

• HLA tissue typing: This test looks for specific genetic markers, like HLA-B27, which are commonly associated with conditions like ankylosing spondylitis and other types of spondylarthritis. It helps the doctor identify the genetic predisposition to certain rheumatic diseases.

• Joint aspiration (Arthrocentesis): In this procedure, a small amount of fluid is taken from the affected joint using a needle. The fluid is then tested for the presence of crystals (which could indicate gout), bacteria (which could point to an infection), or white blood cells (which signal inflammation).

• Muscle biopsy: This test helps diagnose diseases that affect the muscles, such as vasculitis (inflammation of blood vessels) or muscle inflammation in conditions like dermatomyositis.

• Skin biopsy: A small piece of skin tissue is removed to look for signs of diseases like lupus or psoriatic arthritis, which can affect both the skin and joints. The biopsy can show specific patterns of inflammation.

• Urine test: A sample of urine is tested to check for protein and blood cells. High levels of protein or blood in the urine can signal kidney involvement, which is common in conditions like lupus or Henoch-Schönlein purpura (a form of vasculitis).

• X-rays or other imaging tests: X-rays, MRI scans, or ultrasounds can generate detailed images of a child’s joints, bones, and muscles. These tests help assess the extent of damage, inflammation, or any structural abnormalities that might not be visible through a physical exam alone.

Each of these tests plays a key role in helping the paediatric rheumatologist get a clear picture of your child’s condition and determine the best course of treatment.

Treatment

The treatment of your child’s rheumatic condition is largely determined by symptoms, age, nature, and severity of the condition. A paediatric rheumatologist will carefully check the signs of the condition and, based on need, may collaborate with the child’s paediatrician to develop a suitable treatment plan.

Since many juvenile rheumatic disorders are long-term, paediatric rheumatologists will develop a plan that helps the child manage the condition by lowering pain and inflammation, protecting their joints, and allowing them to resume their regular activities. Here are some of the treatments that can be suggested based on specific cases.

• Lifestyle changes and physical therapy: The doctor may advise weight loss therapy and suggest low-impact exercises, depending on the child’s situation, to help reduce the stress placed on their joints. The doctor might also recommend hot and cold therapy to relax muscles and improve circulation. Suggestions other than medications may include using supportive aids such as brace and crutches. 

• Medications: These may include short-term and long-term therapies tailored to individual medical needs. Short-term medication may include painkillers to provide rapid relief from pain and inflammation. In conditions like juvenile idiopathic arthritis or lupus, a short course of corticosteroids may be prescribed to quickly reduce severe inflammation and manage acute flares. 

For chronic management, a range of disease-modifying antirheumatic drugs may be prescribed to control the underlying immune response and prevent disease progression. These drugs significantly reduce disease activity and improve quality of life.

Each child is reported to have different outcomes on medications that depend on specific disease, intensity, and child’s age. Remission or nearly complete disease inactivity is the ambitious goal aimed at reducing as few side effects as possible. Continuous monitoring and adjustment in therapy is key in paediatric rheumatology to enable optimal management of symptoms and disease progression.

• Surgery: This is considered when medical management cannot control symptoms or joint damage continues to advance despite the treatment offered. The different types of performed surgeries are 

1. Synovectomy
2. Joint replacement (Arthroplasty)
3. Tendon release or transfer

Surgical treatments are mainly the options for advanced disease, especially if significant damage to joints has caused discomfort, deformity, or loss of function, limiting a child’s ability to conduct daily tasks.

Surgery is the only form of management of more advanced presentations of disease, particularly if significant damage to the joints has occurred such that severe pain, deformity, or loss of function and limitation in a child’s ability to carry out the usual daily activities have resulted.

Conclusion:

Paediatric rheumatology is a new subspeciality of rheumatology that specifically cares about children suffering from form repeated muscle or joint pain, unexplained fever or symptoms of autoimmune rheumatic conditions such as idiopathic arthritis or lupus. From diagnosis to treatment, the paediatric rheumatologist provides care and personalised guidance to help manage a child’s condition and improve their quality of life.