chylomicronemia syndrome


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Related to chylomicronemia syndrome: familial chylomicronemia syndrome

chylomicronemia syndrome

Hyperchylomicronemia A condition characterized by marked chylomicronemia with plasma TG levels > 225 mmol/L–US: 2000 mg/dL Clinical Abdominal and chest pain, pancreatitis, memory defects, carpal tunnel-like paresthesiae, hepatosplenomegaly, chronic eruptive xanthomata, and insulin-resistant DM, possibly related to marked hypertriglyceridemia; Sx are exacerbated by alcohol, β blockers, diuretics, estrogens, glucocorticoids

chylomicronemia syndrome

(kīl″ō-mī″krō-nēm′ē-ă) [″ + ″ + ″]
A disorder of lipid metabolism in which massively elevated levels of triglycerides are accompanied by the presence of chylomicrons in the blood, even after a fast. It results in abdominal pain, eruptive xanthomas, hepatosplenomegaly, memory loss, and occasionally, life-threatening pancreatitis. The syndrome may result from congenital deficiencies or inhibition of lipoprotein lipase; from apolipoprotein deficiency; or from diseases or conditions that elevate plasma triglyceride levels (poorly controlled diabetes mellitus; excessive ingestion of alcohol; the use of some drugs).
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Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome.
In addition, we and Akcea plan to complete enrollment in the Phase 3 study of volanesorsen in patients with familial chylomicronemia syndrome this year.
Akcea's most advanced program, volanesorsen, is in Phase 3 development to treat patients with ultra-orphan lipid disorders that are characterized by extremely high triglycerides and ApoC-III, including familial chylomicronemia syndrome (FCS) and familial partial lipodystrophy (FPL).