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Familial hyperchylomicronemia syndrome

Also Known As:

Hyperlipoproteinemia, type 1

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hypertriglyceridemia

Experts

1.	Durán-Ventura, Paola: 1 article (01/2022)
2.	Fernandez, Monica: 1 article (01/2022)
3.	Lema, Adriana: 1 article (01/2022)
4.	Meléndrez-Vásquez, Daniela: 1 article (01/2022)
5.	Rivera-Nieto, Carolina: 1 article (01/2022)
6.	Valenzuela-Vallejo, Laura: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial hyperchylomicronemia syndrome:

1.	Lipoprotein Lipase (Diacylglycerol Lipase)IBA 05/01/1992 - "The underlying molecular defects that lead to a deficiency of lipoprotein lipase in two patients from different kindreds presenting with the familial hyperchylomicronemia syndrome have been identified. " 01/05/1991 - "The molecular defects resulting in a deficiency of lipoprotein lipase activity in a patient with the familial hyperchylomicronemia syndrome have been identified. " 01/05/1991 - "Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome." 01/01/2022 - "Primary hypertriglyceridemia was suspected, and genetic testing identified a homozygous pathogenic variant in the lipoprotein lipase gene, diagnosing familial hyperchylomicronemia syndrome. "
2.	Triglycerides (Triacylglycerol)IBA 12/27/2022 - "Primary hypertriglyceridemia (PHTG) is characterized by a high concentration of triglycerides (TG); it is divided between familial hyperchylomicronemia syndrome and multifactorial chylomicronemia syndrome. "