Pediatric Rheumatology

What is Pediatric Rheumatology?

Pediatric rheumatology is a branch of science that deals with diagnosing and treating rheumatic diseases of individuals between the ages of 0-18. Childhood rheumatic diseases are multisystem diseases characterized by acute and chronic inflammation of the musculoskeletal system (joints and muscles), vessels, and skin. When patients admitted to pediatric outpatient clinics are examined, it is among the top 5 causes of rheumatic diseases. In our country, familial Mediterranean fever (FMF) is seen with a frequency of 1/1000, and juvenile rheumatoid arthritis (childhood rheumatoid arthritis) has a frequency of 6/10.000.
Diagnosis and treatment of rheumatological diseases in childhood differ from adulthood. In most patients, systemic findings occur in addition to muscle and joint findings. Treatment and follow-up of these diseases require teamwork; physicians specializing in rheumatological diseases (pediatric rheumatologists), physical therapy and rehabilitation specialists, ophthalmologists, orthopedic specialists, social workers, and nurses are the parts of the team.
Rheumatic diseases cause overlapping complaints and findings. Since there are no laboratory findings specific to the diagnostic approach of these diseases, diagnosis is delayed. As with all other diseases, early diagnosis and treatment are essential.
In these diseases, delay in diagnosis, inadequacies in treatment and follow-up periods, and wrong treatment can cause permanent joint disorders, surgical requirements, secondary amyloidosis, chronic kidney failure, blindness, deterioration in quality of life (indirect labor loss, mental and social problems, as well as deterioration of family dynamics) and can lead to death. These problems cause a moral burden to the family and the child in adulthood and a severe financial burden to the state. Patients with rheumatic complaints should apply to a pediatric rheumatologist without delay. Diseases under the umbrella of pediatric rheumatology are briefly described below.

Familial Mediterranean Fever (FMF)

Familial Mediterranean Fever (FMF): children generally complain of a specific type of attack, such as recurrent abdominal pain and fever. However, complaints may also be in the form of recurrent bouts of fever accompanied by abdominal and chest pain, joint pain, and swelling. It is an inherited/genetic disease. FMF attacks begin before the age of 20 in approximately 90% of patients. Occur in the first ten years of life in more than half. In the family story of the child with these complaints, the disease is usually seen in another child of the relatives, such as a cousin, uncle, or distant relative. If the patient does not receive treatment, there will be an accumulation of a substance called amyloid that will lead to kidney failure unknowingly over the years.

Recurrent Fevers Due to a Genetic Disorder

It has been shown that some rare diseases with recurrent fever are due to a genetic disorder. In many of these, other family members may also have recurrent fever.

The main complaint is fever. It comes in the form of recurrent attacks lasting 2-3 weeks, accompanied by fever, severe muscle pains in the trunk and arms, and red and painful skin rashes. Widespread abdominal pain, nausea, and vomiting are pretty joint.

Juvenile Rheumatoid Arthritis (Childhood Rheumatism)

It is a chronic disease characterized by persistent joint inflammation. Typical signs of joint inflammation are pain, swelling, and limitation of movement. Not every joint swelling, pain, and limitation of movement in children is JIA. Today, more than 100 diseases that can cause these common complaints have been defined.
JIA and similar other childhood rheumatic diseases are caused by the immune system damaging the body's organs, although the exact causes have not been defined. If not appropriately treated, joint inflammation can cause damage and loss of function/injury.

Psoriatic arthritis

Arthritis: Non-microbial joint inflammation takes this name if it is associated with psoriasis. Psoriasis: It is a skin disease that usually occurs in the form of patches on the knees and elbows, causing flaking, peeling, redness, and itching. Sometimes, it can also cause changes in the nails. The skin disease may occur after or before the appearance of arthritis. This type of disease shows variability in terms of clinical findings and prognosis. Having someone else in the family with psoriasis is also a risk factor.

Enthesitis-associated arthritis: Juvenile Spondyloarthropathy

Enthesitis is the inflammation of the entheses, the attachment point of the ligaments (tendons) where the muscles end, to the bone tissue. The most common finding is enthesitis affecting the large joints of the lower extremities and developing swelling and pain in the involved joints. Most of the JIA patients in our country fall into this group. This type's most common site of pain is behind or below the heel. The disease mostly starts after 7-8 years of age, its course varies. In some patients, the disease improves; in others, it may progress, affecting the entire spine, starting with the involvement of the sacroiliac joints (joints connecting the spine and pelvis). This type of disease belongs to the group of diseases that are more common in adults and is called spondyloarthropathy because it affects the spine.

Systemic lupus erythematosus (SLE)

Systemic lupus erythematosus (SLE) is a chronic disease affecting different body parts, such as the skin, joints, blood, and kidneys. Many hereditary risk factors and various environmental factors are thought to be responsible for abnormal immunity. In other words, it occurs due to the immune system damaging the body's organs. Inflamed body parts, such as joints, become hot, swollen, and sometimes tender. As with SLE, if the inflammation lasts long, the tissues are damaged, and their function is impaired. Therefore, the main goal of treatment in SLE is to suppress inflammation.
The child may develop specific complaints caused by the involvement of one or more organs. Skin and mucosal involvement is widespread. These may include skin rashes, photosensitivity (sunlight triggers the rash), and ulcers in the nose and mouth (mucosa). The typical "butterfly" rash around the nose and cheek occurs in a third to half of affected children. Sometimes there is hair loss (alopecia). In some children, a color change in reddening, whitening, and bruising occurs on the fingertips in the cold (Raynaud). Complaints may include joint swelling and stiffness, eyebrow pain, anemia-related complaints, headache, epileptic seizures, and chest pain. Most children with SLE have varying degrees of renal involvement, and this is the main factor determining the course of the disease. The most common symptoms of kidney involvement are high blood pressure, blood in the urine, and swelling, especially in the feet, legs, and eyelids.


Vasculitis means inflammation of the veins. Vasculitides encompass many diseases, and they can manifest disease or a part of vascular rheumatic diseases involving the vessels with no apparent cause (primary vasculitides). This group of vasculitides is classified according to the vessel diameter involved, and their findings, complaints, and vital severity vary. Some of the primary vasculitides are common childhood diseases (Henoch-Schönlein purpura or Kawasaki disease).

Henöch Schonlein Purpura

Henoch-Shoenlein purpura (HSP) is a disease characterized by inflammation of small blood vessels (capillaries). This inflammation is called vasculitis and usually affects small blood vessels in the skin, intestines, and kidneys. These inflamed blood vessels can bleed into the skin, causing a dark red or purple rash called purpura. Purpura is usually seen in the lower extremities and hips but can also occur in other body parts (arms and trunk). In the vast majority of patients (65%), painful joints (arthralgia) or painful and swollen joints with restricted movement (arthritis) are found in the knees, ankles, wrists, elbows, and fingers. When intestinal vessels become inflamed, more than 60% of patients experience intermittent abdominal pain around the navel, sometimes accompanied by mild or severe gastrointestinal bleeding. When renal vessels become inflamed, 20-35% of patients may bleed, and varying degrees of hematuria and proteinuria (presence of protein in the urine) may be observed. In such cases, it is necessary to consult a nephrologist (kidney specialist) and cooperate with the patient's doctor.

Kawasaki Disease

It is a vascular inflammation of unknown cause that affects medium-sized veins. The most feared condition is that the coronary arteries (the arteries that feed the heart) become involved at a rate of 20%. In case of involvement of the coronary vessels, it may cause life-threatening damage. 80% of patients are under five years old. It starts with an unexplained high fever lasting at least five days. The child may have redness in the eyes (conjunctivitis), measles, scarlet fever, urticaria (hives), papules, and similar symptoms. Mouth changes include bright red, chapped lips, red tongue often referred to as "strawberry tongue," and signs of a rash in the throat. There are signs of swelling and redness in the hands and feet, especially on the palms and soles of the feet. Enlargement of the neck lymph nodes can be seen in more than half of the patients. A single lymph node larger than 1.5 cm may also be palpable. Sometimes, other symptoms such as joint pain and swelling, abdominal pain, diarrhea, irritability, and headache may also occur.

Behçet's disease

Behçet's syndrome or Behçet's disease (BS) is an unknown vasculitis (vascular inflammation) with recurrent mouth and genital ulcers and eye, skin, joint, vascular, and nervous system involvement. BS is rarer in children than in adults. With the transition to puberty, some differences are seen. The disease in children after puberty is more similar to adult disease. Familial cases are more common in children than adults. Generally, BS in children is similar to adult disease, although with some exceptions.
Eye involvement: This is one of the most severe manifestations of the disease. It is bilateral in most patients. The eyes are usually involved in the first three years after the onset of the disease. The eye disease has a chronic course with attacks. Both anterior and posterior chambers of the eye are involved (anterior and posterior uveitis). Some structural damages that can lead to gradual vision loss occur after each attack.
Neurological involvement: Although rare, neurological involvement can be seen in children with BS. Epilepsy, headache associated with increased intracranial pressure, and brain findings are characteristic. The most severe form occurs in males. Some patients may develop psychiatric problems.

Childhood dermatomyositis (juvenile dermatomyositis)

Childhood dermatomyositis is an immune system disease that damages its tissues. In this disease, complaints and findings occur due to the inflammation of the muscle and skin tissue, sometimes the muscle tissue, and sometimes only the skin tissue. It causes weakness, especially in the muscles around the hips and shoulders, and lilac-red rashes on the face, eyelids, knuckles, outer sides of the knees, and elbows. Fatigue, which severely limits physical fitness and mobility, is the most apparent sign of muscle weakness caused by inflammation in CDM.


Scleroderma is a Greek word meaning "hard skin." For an unknown reason, an undesirable increase in fibrous tissue occurs in the skin structure, which causes the skin to harden and stretch. This tension can limit movement and cause tissue loss. Skin hardening may develop in different regions and have different appearances. If this tissue change in the skin spreads to other organs, related organ dysfunctions develop.

Two different types of scleroderma are:
The disease is limited to the skin and subcutaneous tissues in local scleroderma and can appear as a patch (morphea) or a tight band (linear scleroderma).
Systemic scleroderma (or systemic sclerosis) is a condition that affects the skin and internal organs. It can lead to complaints such as heartburn, shortness of breath, or high blood pressure.

Pain syndromes

Fibromyalgia is a disease characterized by long-term, widespread musculoskeletal pain, tender points in soft tissues (muscle and tendon), and severe fatigue. The disease is rarely reported in children, mostly in adolescence. Patients complain of widespread pain deep in the tissues. The intensity of pain is variable. Pain can be in both body parts, upper and lower extremities.

Hypermobility syndrome;

In this disease, colloquially known as joint laxity or very flexible structure, there is an above-average joint gap in one or more joints due to a structural change in the congenital/genetic connective tissue. For this reason, abrasions and injuries occur on the joint surfaces over time due to the effect of microtrauma. This may result in joint pain, sometimes limitation of movement, and loss of function.

Created at 11.10.2023 06:55
Updated at 24.05.2024 12:01
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