Finally, the document was distributed for correction and endorsement to all members and
intermittently reviewed for consistency by internal reviewers. An effort was made to include …

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

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

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

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 …

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 …

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 …

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

The cytokines controlling the development of human interleukin (IL) 17–producing T helper
cells in vitro have been difficult to identify. We addressed the question of the development of …

The preservation of articular cartilage depends on keeping the cartilage architecture intact.
Cartilage strength and function depend on both the properties of the tissue and on their …