Familial hypercholesterolemia is a hereditary genetic disorder predisposing in premature atherosclerosis
and cardiovascular complications. Early diagnosis as well as effective treatment strategies in affected children
are challenges among experts. Universal screening and cascade screening among families with familial hypercholesterolemia
are being controversially discussed. Diagnosis of familial hypercholesterolemia in children and adolescents
is usually based on clinical phenotype upon LDL-C levels and family history of premature cardiovascular
and/or elevated LDL-C. Treatment approaches for familial hypercholesterolemia in the pediatric population are
multidisciplinary and aim to reduce total cardiovascular risk. The most widely recommended and effective pharmacotherapy
in the pediatric age group is currently statins. Ezetimibe and bile acid sequestrants are usually used
as second-line agents. New therapeutic approaches, such as mipomersen and PCSK9 inhibitors seem promising.
The main gap of evidence remains the lack of longitudinal follow up studies investigating cardiovascular outcomes,
side effects, and effectiveness of treatment starting from childhood. Evidence would be expected in the
near future by cohort and registry studies.
Arterial hypertension is a common finding in patients with neurofibromatosis (NF) type 1. Renovascular hypertension due to renal artery stenosis or midaortic syndrome could be the underlying cause. We report the case of a 4-year-old girl with NF type 1 and midaortic syndrome whose changes in blood pressure and pulse wave velocity suggested the evolution of vasculopathy, diagnosis of renovascular hypertension, and provided insights of response to treatment. Hypertension persisted after percutaneous transluminal angioplasty in the abdominal aorta, requiring escalation of antihypertensive treatment, while arterial stiffness demonstrated a mild decrease. Regular assessment of blood pressure using ambulatory blood pressure monitoring and noninvasive assessment of arterial stiffness may enhance the medical care of patients with NF type 1.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.