Loeys-Dietz' syndrom - Utfordringer ved diagnostikk og genetisk veiledning

Abstract

Background: Significant technological progress has made us capable of analyzing our entire genetic material and increasing our knowledge regarding genetic diseases. Genomic analysis is used in the diagnostic work-up and can confirm several clinical diseases, but can also bring forth a number of questions and uncertainties in affected individuals. It also leads to diagnostic challenges for clinicians as diagnostic work-ups involves a great deal of uncertainty. Professional genetic counseling and precise information to patients are important to ensure adequate follow-up and treatment. Objective: To review relevant and available literature regarding the hereditary connective tissue disorder Loeys-Dietz’ syndrome and discuss specific challenges related to this severe and potentially life-threatening genetic disease regarding the diagnostic work-up and genetic counseling of affected individuals and their relatives. Method: A literature search was conducted in PubMed with the key words «Loeys Dietz syndrome» and «genetic counseling AND Loeys Dietz syndrome». In addition information was gathered from web sites, textbooks and relevant sources in the reference list. Results: Several challenging factors in the diagnostic workup of Loeys-Dietz’ syndrome were identified. Aspects that were emphasized concerned diagnostics due to the discovery of mutations of uncertain clinical significance, variable and unspecific clinical manifestations and challenges concerning communication of uncertainties to the patient. Conclusion: There are numerous challenges related to diagnosis and counseling in Loeys-Dietz’ syndrome and several aspects have been addressed. The focus should be on increasing awareness of clinical and molecular characteristics to discover individuals at risk of severe vascular pathology and ensure necessary interdisciplinary follow-up and adequate treatment. International collaboration in diagnosis and research is necessary to increase competence regarding this infrequent group of patients.