Qualitative analysis of diagnostic history in patients with Marfan syndrome

• Published in: Journal of Japanese Society of Genetic Nursing Vol. 22; pp. 24 - 33
• Main Authors: Nakamura, Yui, Arimori, Naoko, Miyasaka, Michio
• Format: Journal Article
• Language: Japanese
• Published: Japanese Society of Genetic Nursing 08.11.2023
• Subjects: Diagnostic history; Marfan Syndrome; Narrative analysis; Qualitative analysis
• ISSN: 1881-3267; 2436-9098
• DOI: 10.57276/jjsgn.22.0_24

Background: Marfan syndrome (MFS) is a genetic disorder affecting connective tissues in the body. It is an autosomal dominant inherited disorder caused by the FBN1 gene, which produces fibrillin-1, a protein that provides structural support to various body parts, including the heart, blood vessels, bones, and eyes. People with MFS have a mutated or defective FBN1 gene, which results in an abnormality of the fibrillin-1 protein. This abnormality leads to weakened and stretched connective tissues, which can cause various health problems. Early and appropriate diagnosis of MFS is important in preventing cardiovascular symptoms that affect life expectancy. However, many patients with MFS are diagnosed late and do not receive preventative interventions.Objective: To elucidate the diagnostic processes in patients with MFS.Methods: Semi-structured interviews were conducted with 11 patients with MFS to explore their diagnostic experiences, and a narrative analysis based on Riessman’s method was performed.Results: The diagnostic processes of MFS were classified as follows: Pattern 1, patients recognise MFS symptoms and are diagnosed after experiencing a life-threatening event; Pattern 2, patients are diagnosed with MFS after someone else recognises their symptoms; Pattern 3, patients or their family members do not recognise MFS symptoms but seek medical attention after risk communication within the family or experiencing a life event and are diagnosed with MFS.Conclusion: Nursing professionals should be knowledgeable regarding MFS symptoms to perform appropriate assessments when patients or their families suspect MFS and collaborate with other healthcare professionals to ensure early diagnosis before the onset of life-threatening cardiovascular symptoms. Furthermore, nursing professionals must understand genetic information within families and consider how to share this information with blood relatives. Another vital role of nurses is advising patients not to unnecessarily limit their life events, such as marriage, which may serve as opportunities for early diagnosis.