Impacto de un cribado oportunista de hipercolesterolemia familiar (estudio CRIBACOL) en el area sanitaria de Vigo / Impact of an Opportunist Screening for Family Hypercholesterolemia (CRIBACOL study) in the sanitary area of Vigo

Objective: To assess the effectiveness of the diagnosis of Familial Hypercholesterolemia (FH) through opportunistic screening in the health area of Vigo. Material and Methods: An opportunistic screening was carried out retrospectively on all patients in the Vigo Health Area who had been requested to determine their LDLc during 2018. The inclusion criterion was LDL>250 mg/dL, and the exclusion criteria (TSH >4 mIU/L, A1C>6.5%, fasting glucose>126 mg/dL, Triglycerides>150 mg/dL, GGT>55 IU/L and/or alkaline phosphatase>135 IU/L, proteinuria>3g/ L and serum albumin <30g/L). Opportunistic screening was performed using the Modulab Gold (IZASA) program. Results: The total number of LDL determinations was 236,528 out of 185,095 patients. 233 patients met the inclusion criteria. 162 were discarded due to the exclusion criteria. 71 patients with a possible diagnosis of HF were obtained. These patients underwent a clinical interview applying the criteria of the Dutch Lipid Clinics Network (DLCN). The results were: men (21.12%) and women (78.87%); the mean age was 58 years; had hypertension (22.53%), diabetes (1.4%), smoker (23.49%), received statins (63.38%). The results of applying the DLCN criteria were diagnosis possible (53.52%), probable (32.39%) and certain (14.08%). Conclusion: HF is an underdiagnosed and undertreated disease. The application of an opportunistic screening method with an alarm system for health professionals who request lipid profiles can make an early diagnosis of this disease with high cardiovascular risk. (AU)

Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I.

Objectives: Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase (AOX, EC: 1.2.3.1) in type II. Methods: We describe a novel point mutation in the XDH gene in homozygosis found in a patient with very low serum and urine levels of uric acid, together with xanthinuria. He was asymptomatic but renal calculi were discovered during imaging. Results: Additional cases were found in his family and dietary recommendations were made in order to prevent further complications. Conclusions: Hereditary xanthinuria is an underdiagnosed pathology, often found in a routine analysis that shows hypouricemia. It is important for Laboratory Medicine to acknowledge how to guide clinicians in the diagnosis.