E78.3
Hyperchylomicronemia
Clinical Classification Guidelines
Inclusion Terms
- Chylomicron retention disease
- Fredrickson's hyperlipoproteinemia, type I or V
- Hyperlipidemia, group D
- Mixed hyperglyceridemia
Medical Intelligence & Overview
Hyperchylomicronemia, also known as Fredrickson's hyperlipoproteinemia type I or V, is a rare inherited disorder characterized by the excessive buildup of chylomicrons in the blood. Chylomicrons are a type of lipoprotein responsible for transporting dietary fats from the intestines to other parts of the body. This condition is part of the broader group of hyperlipidemias, affecting the body's ability to process fats properly. When chylomicron levels become elevated, it can lead to various health issues, especially related to the cardiovascular system and pancreatitis.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting lipoprotein metabolism Inherited enzyme deficiencies such as lipoprotein lipase deficiency Defects in apolipoprotein C-II (ApoC-II), which activates lipoprotein lipase Rarely, secondary causes like uncontrolled diabetes or excessive alcohol intake
Key Symptoms: Recurrent episodes of abdominal pain, often severe Eruptive xanthomas, which are small, yellowish skin bumps Lipemia retinalis, a milky appearance of the retinal blood vessels Fatty deposits in the skin and tendons Elevated blood triglyceride levels (often above 1,000 mg/dL) Possible pancreatitis episodes
Diagnostic & Treatment
Diagnosis Path: Diagnosis involves blood tests showing markedly elevated triglycerides and chylomicrons. Lipid profiling is performed to distinguish this condition from other types of hyperlipidemia. Genetic testing can confirm inherited mutations. Additional imaging and clinical assessments may be used to evaluate the extent and impact of the lipid abnormalities.
Treatment Protocols: Management focuses on reducing triglyceride levels to prevent complications, primarily through dietary and lifestyle modifications. This may include a low-fat diet, abstaining from alcohol, and weight management. In certain cases, medications such as fibrates, niacin, or omega-3 fatty acids are prescribed. Close monitoring of lipid levels and symptoms is essential, and in severe cases, plasmapheresis might be considered to rapidly lower triglycerides during acute episodes.
Clinical Advice & FAQs
Billing Guidance
Is E78.3 a billable ICD-10 code?
Yes, E78.3 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E78.3?
Clinical documentation must specify the nature of Hyperchylomicronemia and any associated comorbidities for accurate reporting.
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