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Hyperchylomicronemia: All We Need to Know

About

Primary hyperchylomicronemia occurs due to an increase in chylomicrons in the circulation and is characterized by hypertriglyceridemia.

Hyperchylomicronemia is a genetic disorder and can affect the one or more children from the same bloodline. [1]

Age affected: It can affect any age group.

It is caused by mutations in the gene relating to the enzyme lipoprotein lipase (LPL) and may also be caused by acute pancreatitis and eruptive xanthomas.

High risk of acute pancreatitis: patients with LPL deficiency

- Usually not self-treatable
- Usually not self-diagnosable
- Lab tests are required
- Medium-term: resolves within months

This problem includes:
● Familial LPL deficiency
● Familial apolipoprotein C-II deficiency
● Primary type V hyperlipoproteinemia
● Idiopathic hyperchylomicronemia

Symptoms

Self-diagnosable: Recurrent abdominal pain
The main symptoms are:
● Rapid increase in plasma triglyceride and cholesterol
● Complication of acute pancreatitis
● Diagnosable through tests: The presence of xanthomatous eruption, lipemia retinalis, hepatosplenomegaly

Treatment

Tests may be conducted to detect hyperchylomicronemia:
● Lipid measurements: Milky, lipemic plasma reveals severe hyperchylomicronemia
● Molecular genetic testing: LPL deficiency is tested, which may indicate hyperchylomicronemia
Self-care: Diet with strict low fat and avoidance of simple carbohydrates. Also, avoidance of agents such as alcohol, diuretics, and estrogens is recommended.
Medicines: Lipid-lowering drugs are recommended by doctors, which helps to reduce the intensity of hyperchylomicronemia.
Specialists: For further concerns, consult a physician or a doctor. At mfine, you will receive a holistic treatment plan by specialist doctors for optimum health.

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