Patient 1 12-year-old female patient from Orán, Salta.
She attends the nutrition clinic of our hospital, with her parents and brother diagnosed with homozygous familial hypercholesterolemia.
The diagnosis had been made at 5 years of age by presenting cutaneous xanthomas and dosage of total cholesterol (TC) of 556 mg/dl and sedentary LDL 410 mg/dl. She was treated with diet restricted in fat diet.
The family history included a brother with similar cholesterol levels and two other healthy siblings.
Parents also have hypercholesterolemia, but with lower values (heterozygous).
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FH, familial hypercholesterolemia; he, heterozygous; ho, homozygous; ECVP, premature cardiovascular disease; TC, total cholesterol.
Figure 1.
Familiogram
In the first consultation to our hospital we observed in the physical examination tuberous cutaneous xanthomas and flat in the knees, glottis and elbows, and tendon xanthomas in the region of the aquinas.
Their lipid profile showed TC 500 mg/dl, LDL 410 mg/dl, HDL 44 mg/dl and triglycerides 81 mg/dl.
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Growth and development were adequate, with height in Plo 50 and BMI in Plo 25.
The first ultrasound of the neck vessels showed the intima of the irregular left carotid artery with a 2.4 mm atheroma plaque in the left common carotid.
A 50% decrease in arterial lumen was observed in both carotid arteries.
An echocardiogram showed a bicuspid aortic valve with stenosis and mild valve insufficiency.
It was medicated with atorvastatin, with an initial dose of 10 mg/d, which was progressively increased to a maximum dose of 80 mg/day; and ezetimibe 10 mg/d.
With pharmacological treatment in maximum doses, LDL reached a value of 336 mg/dl, an 18% decrease compared to initial LDL.
Acetylsalicylic acid (ASA) 50 mg/d and vitamin E 200 mg/day were also indicated due to their antioxidant effect.
45 days after admission, the patient started treatment with therapeutic plasma exchange (TPR) every 15 days.
TPR procedures were performed well and with a marked decrease in LDL cholesterol, with LDL values after the procedure of 70-90 mg/dl. Given the great distance between the home and the hospital, TPR varied between 15 days.
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Patient 2 The brother was admitted to the hospital at 8 years of age and, at the time of the first consultation, did not present vascular alterations or skin lesions.
The values of total cholesterol and LDL cholesterol were 542 and 408 mg/dl respectively; since 5 years he was on a lipid-lowering diet.
Growth was normal with height in Plo 25 and BMI Plo 50.
She started pharmacological treatment and received atorvastatin 40 mg/d and ezetimive 10 mg/d, ASA 50 mg/day and vitamin E 200 mg/day.
With diet and pharmacological treatment LDL decreased by 22% (310 mg/dl).
One year after the pharmacological treatment, it was decided to start with TPR, because it did not reach the recommended cholesterol concentrations and, recently, it was considered the technically possible procedure in this patient.
She had good tolerance and response to lipid lowering similar to her sister's.
Table 1 summarizes laboratory and anthropometric data of both patients.
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After 3 years of treatment, both patients showed good tolerance to treatment with adequate development.
Patient 1 partially remitted the atheromatous plaque, with improvement of the arterial lumen according to Doppler ultrasound and markedly decreased malignant lesions.
Patient 2 did not present skin or arterial lesions at 3 years of follow-up.
Both patients are followed up by an interdisciplinary team consisting of a physician specialized in nutrition and nutritionist, pediatric cardiologist, hemotherapist and pediatrician.
