Diagnosis in children with Marfan syndrome: Red flags to prevent delayed diagnosis

Tyvaert Leonie, 2023
Marfan syndrome (MFS) is a hereditary disorder that impacts the body's connective tissues, which serve as the structural adhesive binding various anatomical components. These tissues play a pivotal role in providing structural support to multiple organ systems, including bones, joints, and the cardiovascular system. As a consequence of a genetic mutation in the fibrillin-1 gene, clinical manifestations occur due to the aberrant synthesis of connective tissue: TALL AND THIN BODY: Patients with MFS are often taller than most people and may have long arms, legs, and fingers. JOINT FLEXIBILITY: Their joints can be more flexible than usual, allowing them to move their arms, legs, and fingers in ways that others might find challenging. CARDIOVASCULAR ISSUES: The aorta is susceptible to weakening and dilation, posing a potential hazard in the absence of vigilant monitoring and appropriate management. When the aortic dilation progresses, it can lead to aortic dissection, a critical condition associated with a considerably elevated risk of mortality. EYE PROBLEMS: Ectopia lentis or lens subluxation serve as significant indicators of Marfan syndrome (MFS). Some patients are nearsighted, making myopia also a feature associated with MFS. Important to know is that MFS can vary from person to person. Not everyone with Marfan syndrome will have all of these features, and the condition can range from mild to more severe. While it can pose some health risks, especially related to the cardiovascular system, with the right medical care and monitoring, many people with MFS can lead fulfilling lives. It's important to work closely with healthcare professionals to manage the condition and prevent any potential complications, e.g. dissection of the aorta. Enhancing the quality of life for individuals impacted by MFS demands an increased focus on awareness and the reduction of delayed diagnoses. Effective cooperation among healthcare professionals in recognizing risk factors and early warning signs linked to MFS can significantly contribute to achieving this objective. In this research, we performed a statistical analysis using data collected from two groups: patients diagnosed with MFS and those who exhibited symptoms of MFS but did not receive a confirmed diagnosis after genetic counselling and clinical examination. The primary objective of this research is to pinpoint shared clinical characteristics in children diagnosed with MFS, with the ultimate goal of averting delayed diagnoses. Valuable resources in this endeavour is Kind en Gezin and Centrum voor Leerlingenbegeleiding (CLB), organizations located in Flanders, Belgium. They provide a wide range of services and support with a primary focus on child welfare and health, which makes them well-suited for the early detection of abnormalities. By incorporating straightforward red flags into routine health checklists, Kind en Gezin and CLB can play a vital role in recognizing children who exhibit potential signs of MFS. When these warning signals are observed, children can be identified as candidates for further evaluation. Through the examination of clinical associations, the aim of the study is to refine guidelines that facilitate early detection of MFS for general paediatricians and physicians associated with Kind en Gezin and CLB.

Promotor Laura Muino Mosquera
Opleiding Geneeskunde
Domein Pediatrie