Early Diagnosis Can Save Lives in the Treatment of Rheumatological Diseases in Children

A press conference was held by the Child Rheumatology Society in collaboration with Novartis on the occasion of World Rare Disease Day on 28 February to draw attention to the challenging journey of children with rare diseases in Turkey and to raise public awareness. The conference, which took place with the participation of Prof. Dr. Özgür Kasapçopur, Specialist in Pediatric Rheumatology at the Department of Child Health and Diseases at İ. Ü. Cerrahpaşa Medical School, Assoc. Prof. Dr. Nuray Aktay Ayaz, Specialist in Pediatric Rheumatology at the Department of Pediatric Rheumatology at Kanuni Sultan Süleyman Training and Research Hospital, and theatre artist Doğa Rutkay, focused attention on rheumatic diseases seen in children. Prof. Dr. Özgür Kasapçopur, pointing out that in addition to many known primary diseases in childhood, previously unknown diseases can also emerge and that all of these diseases are defined as "rare" or "orphan" diseases, noted that many rare diseases fall within the scope of interest of the pediatric rheumatology field. Assoc. Prof. Dr. Nuray Aktay Ayaz, clarifying that rheumatic diseases affecting the musculoskeletal system in children can also affect other systems in the body, emphasized that if such diseases remain untreated, they can lead to permanent and disabling joint changes. Families of children who have experienced and undergone treatment for rheumatic disease also shared their experiences at the conference. The most commonly encountered rheumatologic disease in childhood (ages 0-16) is Juvenile Idiopathic Arthritis (JIA). Systemic Juvenile Idiopathic Arthritis (sJIA), the most severe form of JIA, tends to begin frequently in children aged 5 and under but can be seen in all age groups of children. The most common manifestations of sJIA, which affects the entire body including joints, are: recurrent and uncontrollable fever episodes, red-colored rashes, and severe joint involvement. The cause of this condition is uncontrolled inflammation, and non-infectious causes lead to this inflammation.

The course and severity of the disease vary from child to child. If the disease is not brought under control in time, it can even lead to death. sJIA is a treatable disease if diagnosed early and the patient is managed in a good pediatric rheumatology center.

Another important rheumatologic disease seen in children is Familial Mediterranean Fever (FMF). FMF, which presents with high fever, abdominal and/or chest pain, and frequently painful and severe skin redness on the feet and/or lower legs, is a disease treatable with medication. If left untreated, it can cause kidney damage. Another genetic rare disease that presents with rashes accompanying recurrent fever is CAPS, which stands for "Cryopyrin-Associated Periodic Syndrome". In most patients, symptoms appear from birth. Because the symptoms resemble other diseases and it is very rarely seen, diagnosis can be delayed. At advanced stages, it can lead to problems such as hearing loss, chronic meningitis, and damaging joint inflammation. When diagnosed early, it is treatable. The European Union considers diseases affecting 5 or fewer individuals per 10,000 people in the population as "rare". Eighty percent of these diseases are of genetic origin, and most are chronic and life-threatening. However, only 1 out of every 10 rare diseases has a treatment. Rare diseases affecting 75 percent of children can lead to fatal outcomes if not diagnosed early. Because the symptoms of rare diseases generally resemble those of more common diseases, diagnosis can be difficult and often misdiagnosis occurs. Increasing awareness regarding rare diseases, early diagnosis and effective treatment application play an important role in preventing possible disabilities and life-threatening conditions that may occur in children.