Familial hyperchylomicronemia

Familial Hyperchylomicronemia (also known as Type 1 Hyperlipoproteinemia or Fredrickson Type 1 Hyperlipoproteinemia) is a rare genetic disorder characterized by the overproduction of chylomicrons in the blood. This condition is typically inherited in an autosomal recessive manner and is caused by mutations in the lipoprotein lipase (LPL) gene or the Apolipoprotein C2 (APOC2) gene.

Symptoms

The primary symptom of familial hyperchylomicronemia is the presence of a high level of chylomicrons in the blood, leading to hypertriglyceridemia. This can result in a variety of symptoms, including abdominal pain, pancreatitis, hepatosplenomegaly, eruptive xanthomas, and lipemia retinalis. In severe cases, the condition can lead to life-threatening complications such as acute pancreatitis.

Diagnosis

Diagnosis of familial hyperchylomicronemia is typically made through a combination of blood tests, genetic testing, and clinical evaluation. Blood tests may reveal elevated levels of triglycerides and chylomicrons, while genetic testing can identify mutations in the LPL or APOC2 genes.

Treatment

Treatment for familial hyperchylomicronemia primarily involves dietary modifications to reduce the intake of fats. In some cases, medication may be prescribed to help lower triglyceride levels. Regular monitoring of triglyceride levels and pancreatic function is also important.

See also

• Hyperlipidemia
• Lipoprotein lipase deficiency
• Apolipoprotein C2 deficiency

NIH genetic and rare disease info

• NIH info on Familial hyperchylomicronemia

Familial hyperchylomicronemia is a rare disease.