Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary
heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels …

Aims The first aim was to critically evaluate the extent to which familial hypercholesterolaemia
(FH) is underdiagnosed and undertreated. The second aim was to provide guidance for …

Aims Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition
characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (…

Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart
disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated …

A predisposition for thoracic aortic aneurysms leading to acute aortic dissections can be
inherited in families in an autosomal dominant manner. Genome-wide linkage analysis of two …

Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye,
skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (…

The discovery of autosomal dominant hypercholesterolemic patients with mutations in the
PCSK9 gene, encoding the proprotein convertase NARC-1, resulting in the missense …

Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been
associated with a wide range of overlapping phenotypes. Clinical care is complicated by variable …

We used a novel approach to address this issue, making use of patients with various inborn
errors of immunity impairing most of these cytokine signaling pathways separately to …

Background Given the phenotypic similarities between rheumatoid arthritis (RA)–associated
interstitial lung disease (ILD) (hereafter, RA-ILD) and idiopathic pulmonary fibrosis, we …