A 34-year-old man referred to the clinic for persistent LDL cholesterol levels above 250 mg/dL. The patient is asymptomatic but on examination there are whitish indurated spots on elbows, knees and eyelids. His BP is 135/85 mmHg. Her father died of myocardial infarction at the age of 48 years. The fasting blood test shows a total cholesterol of 346 mg/dl, LDL cholesterol of 278 mg/dl, HDL cholesterol of 42 mg/dl, triglycerides of 130 mg/dl and glucose of 93 mg/dl. Regarding the disease from which this patient suffers, one of the following statements is FALSE. Point out which one:
This is a heterozygous familial hypercholesterolemia. We must know how to recognize the disease and know the criteria. It seems to me to be of high difficulty.
It is an autosomal codominant hereditary disease, with a high penetrance, so it is frequent that some of the parents and siblings of the individual also suffer from it.
The genetic disorder affects the gene encoding the LDL cholesterol receptor and more than 900 mutations have been described.
The genetic disorder also affects the synthesis of triglycerides, causing in the advanced stages of the disease, an increase in triglycerides, which is usually higher than 500 mg/dl.
Untreated males have a near 50% chance of a coronary event before age 60, and women with the disease have a higher prevalence of ischemic heart disease than the general female population.
Statins are effective in the treatment of the heterozygous form of the disease, but often need to be combined with cholesterol absorption inhibitors to achieve therapeutic goals and disease control.
This is a heterozygous familial hypercholesterolemia. We must know how to recognize the disease and know the criteria.