Understand High-Density Lipoprotein Deficiency diagnosis, symptoms, and treatment. Find information on HDL deficiency, low HDL cholesterol, hypoalphalipoproteinemia, clinical documentation, medical coding, ICD-10 codes, and lab tests related to managing and documenting this lipid disorder. Learn about familial hypoalphalipoproteinemia, genetic testing, and best practices for healthcare professionals.
Also known as
Pure hypercholesterolemia
Elevated cholesterol levels with normal other lipids.
Mixed hyperlipidemia
Elevated cholesterol and triglycerides.
Other hyperlipidemia
Includes other specified hyperlipidemias.
Follow this step-by-step guide to choose the correct ICD-10 code.
Is the HDL deficiency primary (familial)?
Yes
Is there Tangier disease?
No
Is there a documented cause?
When to use each related code
| Description |
|---|
| Low HDL cholesterol |
| Familial hypoalphalipoproteinemia |
| Tangier disease |
Risk of inaccurate coding due to unspecified HDL deficiency vs. familial hypoalphalipoproteinemia. Impacts reimbursement and data analysis.
Failure to code underlying conditions causing low HDL (e.g., diabetes, medications) can lead to denied claims and inaccurate quality reporting.
Lack of documented family history for genetic HDL deficiency may hinder accurate risk assessment and preventive care planning. Impacts quality metrics.
Q: What are the most effective strategies for diagnosing familial hypoalphalipoproteinemia in patients with very low HDL cholesterol levels and no clear secondary causes?
A: Diagnosing familial hypoalphalipoproteinemia (FHA) requires a multifaceted approach when HDL cholesterol levels are significantly low (<40 mg/dL in men, <50 mg/dL in women) and secondary causes like malnutrition, acute illness, or certain medications have been ruled out. Genetic testing plays a crucial role, specifically targeting mutations in the ABCA1 gene, the most common genetic defect associated with FHA. A thorough family history focusing on premature cardiovascular disease and low HDL levels in first-degree relatives can provide strong supporting evidence. Furthermore, analyzing apolipoprotein A-I (apoA-I) levels is essential, as they are typically reduced in FHA. While imaging studies like coronary artery calcium scoring can assess cardiovascular risk, they are not directly diagnostic for FHA. Consider implementing genetic counseling for patients and their families to discuss inheritance patterns, potential risks, and available management options. Explore how genetic testing options and interpretation can improve diagnostic accuracy in FHA cases.
Q: How can I differentiate between acquired and genetic causes of low HDL cholesterol in clinical practice, considering patient history and available diagnostic tests?
A: Differentiating acquired versus genetic low HDL cholesterol requires careful consideration of patient history, lifestyle factors, and targeted diagnostic tests. Acquired causes frequently stem from conditions like diabetes, chronic kidney disease, certain medications (e.g., beta-blockers, anabolic steroids), and lifestyle choices such as smoking and a sedentary lifestyle. In contrast, genetic causes, including familial hypoalphalipoproteinemia and Tangier disease, often present with markedly low HDL cholesterol from a younger age and a strong family history of dyslipidemia. Start by conducting a detailed patient history focusing on medication use, comorbidities, and family history of low HDL and premature cardiovascular disease. Basic lipid panels, including HDL, LDL, and triglycerides, provide a starting point, while further investigation may involve measuring apolipoprotein A-I levels, which tend to be significantly reduced in genetic forms of low HDL. For patients with suspected genetic causes, consider genetic testing for specific mutations like ABCA1. Learn more about the various genetic mutations associated with low HDL cholesterol and their clinical implications.
Patient presents with suspected High-Density Lipoprotein Deficiency (Hypoalphalipoproteinemia, low HDL cholesterol, HDL deficiency). Family history is significant for premature coronary artery disease. Patient reports no specific symptoms related to low HDL. Physical examination reveals no xanthomas or other signs of lipid disorders. Laboratory results confirm low HDL cholesterol levels (below 40 mgdL for men, below 50 mgdL for women), with specific values documented in the lipid panel. Other lipid parameters, including LDL cholesterol, triglycerides, and total cholesterol, have been assessed and are recorded. Cardiovascular risk assessment performed using Framingham Risk Score or other validated tool. Diagnosis of High-Density Lipoprotein Deficiency established based on low HDL cholesterol levels, family history, and absence of secondary causes of low HDL such as medications or medical conditions. Differential diagnosis considered includes familial hypoalphalipoproteinemia, Tangier disease, and secondary causes of low HDL. Treatment plan focuses on lifestyle modifications including therapeutic lifestyle changes (TLC) such as diet low in saturated and trans fats, regular exercise, and smoking cessation. Pharmacological interventions such as niacin, fibrates, or statins may be considered if lifestyle modifications are insufficient to achieve target HDL levels. Patient education provided regarding the importance of HDL cholesterol in cardiovascular health and the need for ongoing monitoring. Follow-up appointment scheduled to monitor lipid levels and assess treatment efficacy. ICD-10 code E78.5 assigned.