CW, a Polish patient living in Chile, consulted for the first time in 1975 at the age of 46 years for a picture of hypercholesterolemia phenotype IIa, with serum concentrations of total cholesterol of 116 mg/dl and non-ischemic coronary disease.
His family history showed that his mother and maternal grandmother had isolated hypercholesterolemia and early coronary heart disease (clinical manifestations before 65 years).
In her personal history, the patient reported a history of pulmonary TB, rheumatic disease in her youth and recent onset.
He did not smoke or drink alcohol, had an active life, although without programmed physical activity, and had a high consumption of sweetened fats.
The physical examination performed in the initial consultation showed a body mass index of 27.8 kg/m2 and blood pressure of 130 mm Hg.
Cardiac examination was normal.
There were no carotid or abdominal murmurs and peripheral arterial pulses of the lower limbs were normal.
The patient had bilateral corneal arch and xanthomas in the extensor tendons of the hands and Achilles tendons.
Eye fundus examination revealed mild stenosis of the vessels.
Laboratory tests showed fasting glucose of 85 mg/dl and TSH of 2.8 uUI/ml with normal liver and kidney tests.
A stress electrocardiogram was negative for coronary insufficiency.
Doppler ultrasound revealed non-stenotic atheromatosis of both internal carotid arteries and subclavian arteries.
Initially, a hypocaloric regime was indicated, with reduction of fatty acid intake and cholesterol monitoring and increased intake of polyunsaturated fats and dietary fiber, without obtaining significant changes in total plasma cholesterol concentrations of 430dl.
Subsequently, cholesteramine therapy began with 4 g/day, titrating the dose to 24 g/day.
The response to this resin was dose-dependent, although with a very slight hypocholesterolemic effect, reaching concentrations of serum total cholesterol between 300-400 mg/dl. With higher doses, the patient reported digestive intolerance, periodically reducing the dose.
To reinforce the resin effect, fibrates (clofibrate, bezafibrate) were associated, without obtaining an additional lipid-lowering effect.
At this time, estimated serum LDL-C levels ranged between 300 and 350 mg/dl.
In 1992 and with the introduction of statins to the therapeutic arsenal, the patient began monotherapy with lovastatin 40 mg/day, without obtaining a significant response, although the association of cholesterol esteramine alone 80 mg/day with HDL-cholesterol yes/250 + statins was maintained at an acceptable level + 25-LDL + 25 mg/dl.
Transaminase and creatine phosphokinase (CPK) total and plasma muscle fraction have always been normal.
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During the evolution, the patient developed mild arterial hypertension controlled with microalbuminuria (10 mg/day).
In addition, he has experienced vertigo, with proven damage to the VIII cranial nerve, possibly ischemic in nature.
A carotid ultrasound examination performed in 2000 showed bilateral carotid atheromatosis with mild elongation of vessels without significant hemodynamic compromise.
A new stress electrocardiogram in 2002 was negative for coronary risk failure.
In that same year, the patient presented pulmonary thromboembolism associated with prolonged trips for which oral anticoagulant therapy was initiated.
At that time and while the patient was being treated with simvastatin 80 mg/day and with LDL-c levels of 242 mg/dl, a leukocyte DNA sample was obtained for molecular analysis of the gene polymorphism> 1705A.
One year ago, the patient was being treated with simvastatin 80 mg/day + ezetimibe 10 mg/day, achieving persistent LDL-C200 mg/dL for the first time.
On her last follow-up in June 2005, the patient was active, with no associated cardiovascular symptoms and good physical capacity, blood pressure of 150/60 mmHg and the rest of the physical examination without significant variations.
The patient is receiving simvastatin/ezetimibe hydrochloride/10 mg daily, amlodipine (10 mg) and acenocoumarol.
The most recent lipid profile shows a total cholesterol of 260 mg/dl, LDL-c of 180 mg/dl, HDL cholesterol of 60 mg/dl and triglycerides of 100 mg/dl. The additional laboratory showed normal plasmatic concentrations of glucose.
