Hemodynamic and angiographic evaluation of cardiovascular involvement in patients with homozygous familial hypercholesterolemia

Three male and five female subjects (mean age, 18±6 years) with homozygous familial hypercholesterolemia underwent cardiac catheterization as part of an ongoing study of the efficacy of low-density lipoprotein apheresis. None of the patients had a previous myocardial infarction or severe left ventricular dysfunction. Four patients had a coronary artery stenosis of at least 50% in one major epicardial vessel (group I), whereas the remaining patients had no significant stenoses (group II). The extent of coronary artery disease was estimated by use of the Gensini coronary scoring system. The mean age of patients in group I was significantly higher than that of patients in group II (23±2 vs 13±1; P<0.05); the mean coronary scoring system value in group I was also significantly higher than that in group II, being 17±5 and 0.8±0.5, respectively (P<0.01). All the hemodynamic variables except left ventricular end-diastolic pressure were similar in the two groups of patients. The significant increase in left ventricular end-diastolic pressure in group I (17±2 vs 11±1 mm Hg in group II, P<0.05) was related to the occurrence of severe aortic valve disease in two patients in group I. Only a minor involvement of aorta and peripheral arteries was observed on average among the whole population. No differences between the two groups were observed with respect to anginal pain or cholesterol plasma levels (734±78 mg/dL in group I and 725±86 mg/dL in group II). Among the previously mentioned clinical and hemodynamic variables, only the patient's age was able to predict the extent of coronary artery disease, being significantly related to values of the coronary scoring system (r=0.95; P<0.01). In conclusion, the severity and the extent of coronary artery disease in patients with homozygous familial hypercholesterolemia are closely related to the patient's age. Furthermore, a major involvement of coronary arterial tree seems to occur earlier with respect to peripheral arteries. Our data support an effective early therapeutic intervention designed to prevent an early onset of diffuse arterial disease or to minimize its rapid progression.