Introduction:

Familial hypercholesterolemia is a disease with high prevalence; it shortens life expectancy if it is not treated, so early diagnosis is essential. Genetic tests are the gold standard for the diagnosis of familial hypercholesterolemia, however, the unavailability of the genetic test should not be an obstacle to proper conduct in these cases.

Objective:

To identify predictive clinical criteria in the diagnosis by screening of familial hypercholesterolemia.

Methods:

A prospective descriptive study was carried out from a sample of 393 patients (index cases) of FH at Hermanos Ameijeiras Surgical Clinical Hospital from 2008 to 2018.

Results:

In the family investigation, 177 (15.66%) new cases of familial hypercholesterolemia were identified, 35 of them (19.77%) are classified as positive cases, 58 (32.77%) as probable cases and 84 as possible cases (47.46%). The stratum categories of Make Early Diagnosis to Prevent Early Death (MEDPED) and the age of the index case turned out to be the clinical variables of interest with the greatest probability to identify new cases of familial hypercholesterolemia.

Conclusions:

The standardized clinical criteria of the make early diagnosis to prevent early death P scale and the age of the index case turned out to be highly valuable predictive indicators to identify and stratify cases with phenotypic variants of familial hypercholesterolemia.

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