Unmasking a Rare Genetic Mutation: The Importance of Genetic Testing in Refractory Hypertriglyceridemia
We underscore the importance of genetic testing in refractory hypertriglyceridemia despite a lack of clinical signs. A definitive diagnosis can alleviate patient burden, improve therapeutic adherence, and enhance the patient-physician relationship.
Authors
- Nina Maria Fanaropoulou (ORCID: https://orcid.org/0000-0003-4640-8864)
- Anastasios Manessis (ORCID: https://orcid.org/0000-0002-5473-0573)
- Panagiotis Theodoropoulos (ORCID: https://orcid.org/0009-0009-4017-5140)
Institutions
- Aristotle University of Thessaloniki (GR)
- Diabetes & Endocrine Associates (US)
- New York University (US)
Publication Details
- Journal
- AACE Clinical Case Reports
- Published
- 2024-08-23
- DOI
- https://doi.org/10.1016/j.aace.2024.08.006
- Citations
- 1
- Primary Topic
- Lipid metabolism and disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.40