Presentation
We received a 48-year-old woman for consultation who until then had been in good health. Her maternal family history is nevertheless marked by a grandfather who died of a myocardial infarction at the age of 41, a mother suffering from type 2 diabetes as well as mixed dyslipidemia, and a 36-year-old sister in exploration course for hypercholesterolemia. She does not know the medical history of her paternal branch.
It was at the request of her family that she requested an endocrinology consultation. The goal: to evaluate his lipid profile based on his history and recent biological results. The patient says that a little over ten years ago, she had already mentioned to her loved ones the discovery of high cholesterol levels. But no further exploration had been carried out.
Biological assessment
A little later, at the age of 38, a biological assessment was carried out at the request of occupational medicine. The results were as follows:
| Dosage | Results (units) |
| Total cholesterol | 285 mg/dL |
| Low-density lipoprotein (LDL) | 212 mg/dL |
| High-density lipoprotein (HDL) | 51 mg/dL |
| Triglycerides | 96 mg/dL |
On that date, she was prescribed statin therapy, but she only took it occasionally. Over the next few years, his cholesterol levels increased to the values below:
| Dosage | Results (units) |
| Total cholesterol | 379 mg/dL |
| Low-density lipoprotein (LDL) | 327 mg/dL |
| High-density lipoprotein (HDL) | 57 mg/dL |
The patient confirmed irregular intake of her statin treatment, which she even stopped approximately two years before the consultation. Upon questioning, she reported no symptoms or personal cardiovascular history.
Clinical examination revealed a blood pressure of 110/60 mm Hg, a weight of 60.7 kg and a body mass index of 26 kg/m² (a BMI above 25 kg/m² indicates overweight, at least above 30 kg/m², obesity). No corneal arcing was observed. Cardiopulmonary function was normal, with no signs of tendon xanthomas or xanthelasmas.
Additional biological assessments were carried out on the patient as well as on certain members of her close family. The results of these tests, along with the lipid profile of the mother and sister, are shown in the table below.
| Dosage | Patient (units) | Mother (units) | Sister (units) | Reference values |
| Blood sugar | 86 mg/dL | – | – | 70 to 99 mg/dL |
| Glycated hemoglobin | 5,5 % | – | – | Less than 6.5% |
| Creatinine | 0,97 mg/dL | – | – | 0.7 to 1.2 mg/dL |
| Uric acid | 4,3 mg/dL | – | – | 3.4 to 7 mg/dL |
| Alanine aminotransferase (ALT) | 15 U/L | – | – | Less than 60 U/L |
| Aspartate aminotransférase (AST) | 12 U/L | – | – | Less than 39 U/L |
| TSH | 1.2 mIU/L | 0.5 to 4.5 mU/L | ||
| Total cholesterol | 345 mg/dL | 228 mg/dL | 525 mg/dL | Less than 200 mg/dL |
| LDL | 272 mg/dL | 118 mg/dL | 415 mg/dL | Less than 100 mg/dL |
| HDL | 73 mg/dL | 38 mg/dL | 89 mg/dL | 40 to 60 mg/dL |
| Triglycerides | 78 mg/dL | 243 mg/dL | 129 mg/dL | Less than 150 mg/dL |
