Detection of Familial Hypercholesterolemia through centralized analytical data. HF HUELVA DETECTA Program.

BACKGROUND: Familial Hypercholesterolemia is the most frequent genetic cause of premature coronary heart disease. The delay in the diagnosis prevents the correct early treatment. There are no effective screening strategies at the national level that ensure a correct diagnosis. OBJECTIVE: To determine the capacity of a centralized laboratory for the diagnosis of Familial Hypercholesterolemia through the creation of a health program for population screening in the province of Huelva. METHOD: Active search of patients with primary hypercholesterolemia through the blood tests carried out in the reference laboratories with results of low-density lipoprotein cholesterol greater than 200 mg/dl and assessment in the Lipid Unit of Huelva to identify index cases, with subsequent family cascade screening. RESULTS: 37,440 laboratory tests with lipid profile were examined. After screening, 846 individuals were seen in the Lipid Unit, of which they were diagnosed according to criteria of the Dutch Lipid Clinic Network as possible 654 and probable/definitive 192 individuals, representing 1.74% and 0.51% of the general population examined respectively. CONCLUSIONS: The point prevalence of Familial Hypercholesterolemia in patients submitted to laboratory lipid profile tests was 1:195, higher compared to the prevalence of Familial Hypercholesterolemia in the general population (based on 1 in 200-300). The opportunistic search strategy of the index case through a laboratory alert and centralized screening is an efficient strategy to implement a national screening for the diagnosis of Familial Hypercholesterolemia.

A salty cause of severe hypertension.

A 51-year-old lady was referred to our clinic because of severe hypertension; blood pressure 214/119 mm Hg despite treatment with an angiotensin receptor antagonist and a calcium channel blocker. Her initial laboratory results showed hypokalaemic alkalosis with normal urea and creatinine levels. Her 24-h urinary sodium excretion was markedly elevated at 244 mmol (equivalent to a daily intake of approximately 16 g of salt). Hyperaldosteronism was suspected but her plasma aldosterone level was subsequently found to be normal. On further questioning, the patient admitted to eating considerable amounts of salted liquorice and a diagnosis of acquired apparent mineralocorticoid excess was made. Liquorice has a well-known mineralocorticoid activity as it inhibits the action of 11ß-hydroxysteroid dehydrogenase 2 and can induce mineralocorticoid hypertension. After stopping eating the salted liquorice, the patient's blood pressure quickly normalised and all her antihypertensive medications were stopped.