Introduction: The Familial Hypercholesterolemia (FH) is a is an underdiagnosed
autosomal codominant hereditary disease that lead to increased levels of low density
lipoprotein (LDL-c) and has two distinct phenotypes: the homozygote, a rare form of
this disease with frequency of 1:1 million inhabitants; and the heterozygote which
frequency is estimated to be 1:250 inhabitants. Objectives: To describe the clinical
and nutritional aspects of two patients with FH. Methods: Data were collected from
medical records, which were tabulated in Excel spreadsheets. Weight, height, arm
circumference, waist circumference and triceps and subscapular skinfolds were
measured and a simplified food frequency questionnaire was applied for
anthropometric and nutritional assessment. Results: One male homozygous case
(FHHo-case 1) and one female heterozygous case (FHHe-case 2) were evaluated
and distinct characteristics were observed in each case. The case 1 had maximum
LDL-c levels, with 760 mg / dL, but responded to therapy with significant LDL-c levels
decrease, and presents tuberous xanthomas and corneal arches. He was diagnosed
with malnutrition, his growth curve showed thinness in the parameter BMI/age and
adequate intake of food markers for cardiovascular risk was recorded. The case 2
presented a maximum level of LDL-c 256 mg/dL, firstly diagnosed with central
precocious puberty, eutrophy according to anthropometry and excessive intake of
food markers for cardiovascular risk. Conclusion: For the evaluated patients, the diet
does not seem to be sufficient to contain LDL-c levels, however must be paid
attention to the dietary management of these patients. In addition more clinical- nutritional studies are needed on this disease.
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