Fast Facts: Familial Chylomicronemia Syndrome

Fast Facts: Familial Chylomicronemia Syndrome

Raising awareness of a rare genetic disease

M.H. Davidson, L. Benes, A.S. Wierzbicki

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Description

Familial chylomicronemia syndrome (FCS) is an ultra-rare genetic disorder characterized by the abnormal build-up of chylomicrons, the largest type of lipoprotein, which transport dietary fat from the gut to the rest of the body. Patients with FCS often experience severe symptoms, the most feared of which is acute, potentially life-threatening, pancreatitis. This resource is intended to raise awareness of FCS among all members of the healthcare team who come into contact with patients with FCS, with the aim of earlier diagnosis and management, thus preventing some of the more devastating physical, neurological and cognitive symptoms of the disorder. Table of Contents: • Terminology, etiology and pathophysiology • Diagnosis • Complications • Management and prevention • Research directions


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M.H. Davidson:
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