Missing in action: the genetic mysteries of extremely low HDL cholesterol
Each case presented a unique spectrum of clinical phenotypes, systemic complications, and biochemical abnormalities, illustrating the diverse impact of these genetic mutations. We provide a detailed analysis of the clinical and biochemical profiles of these patients, highlighting key aspects of disease manifestation and progression. This report underscores the importance of recognizing and characterizing rare genetic causes of low HDL-C, which may have profound implications for patient care and risk stratification.
Authors
- Eran Leitersdorf (ORCID: https://orcid.org/0000-0001-8740-9068)
- Ronen Durst (ORCID: https://orcid.org/0000-0003-3559-1050)
- Marc Gotkine (ORCID: https://orcid.org/0000-0003-2541-6232)
- Rafael Bitzur (ORCID: https://orcid.org/0000-0001-7363-2330)
- Mohammad Mowaswes
- Ronen R. Leker (ORCID: https://orcid.org/0000-0003-4794-0334)
- Itai Chovers
- Mordechai Golomb
- Smadar Horowitz‐Cederboim (ORCID: https://orcid.org/0009-0005-1450-8299)
- Daniel Schurr
- Shoshi Sphitzen
Institutions
- Sheba Medical Center (IL)
- Hadassah Medical Center (IL)
Publication Details
- Journal
- Frontiers in Cardiovascular Medicine
- Published
- 2025-05-22
- DOI
- https://doi.org/10.3389/fcvm.2025.1553259
- Citations
- 1
- Primary Topic
- Cholesterol and Lipid Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 2.01