TypIHyperlipoproteinämie

TypI Hyperlipoproteinämie, also known as familial hyperchylomicronemia, is a rare autosomal recessive genetic disorder characterized by extremely high levels of triglycerides in the blood. This condition is caused by mutations in genes responsible for the metabolism of triglyceride-rich lipoproteins, primarily chylomicrons. The most common genetic defects involve the gene encoding lipoprotein lipase (LPL), an enzyme essential for breaking down triglycerides in the bloodstream, or the gene for apolipoprotein C-II (ApoC-II), a cofactor required for LPL activity.

Individuals with TypI Hyperlipoproteinämie typically present in childhood or early adulthood with symptoms related to the accumulation of chylomicrons. These can include recurrent episodes of acute pancreatitis, which is a serious and potentially life-threatening complication. Other manifestations may include hepatosplenomegaly (enlargement of the liver and spleen), eruptive xanthomas (yellowish skin deposits filled with lipids), and lipemia retinalis (whitish appearance of retinal blood vessels due to high triglyceride levels). Intellectual disability can also occur in severe cases.

Diagnosis is confirmed by measuring fasting lipid levels, which consistently show very high triglycerides (often >1000 mg/dL) and normal or slightly elevated cholesterol. Genetic testing can identify the specific mutations. Treatment focuses on aggressive dietary modification, particularly severe restriction of dietary fat, often to less than 10% of total caloric intake. Medications that lower triglycerides, such as fibrates or omega-3 fatty acids, may also be used, although their efficacy can be limited in severe LPL deficiency. Strict adherence to a low-fat diet is crucial to prevent recurrent pancreatitis and other complications.