Clinical Guidance

CETP-related hyperalphalipoproteinemia (HALP), the most common form of primary HALP, is characterized by marked elevations in plasma high-density lipoprotein cholesterol (HDL-C) together with large cholesterol ester-rich high-density lipoprotein (HDL) particles in the absence of secondary causes of HALP, including high alcohol intake, primary biliary cirrhosis, multiple lipomatosis, prolonged intensive physical exercise, and certain medications . CETP-related HALP is generally asymptomatic with no obvious clinical signs or symptoms. The possible diagnosis is generally identified as an incidental finding of HALP as part of a routine lipid profile on laboratory testing.

Diagnostic Criteria

No consensus clinical diagnostic criteria for CETP-related hyperalphalipoproteinemia (HALP) have been published.

Suggestive Findings

Biallelic (homozygous or compound heterozygous) CETP-related HALP should be suspected in probands with moderate hypercholesterolemia, markedly increased high-density lipoprotein cholesterol (HDL-C), and low low-density lipoprotein cholesterol (LDL-C), consistent with the following:

• Plasma total cholesterol level of 220-320 mg/dL (5.7-8.3 mmol/L)

Management Guidelines

No clinical practice guidelines for CETP-related hyperalphalipoproteinemia (HALP) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of findings in an individual diagnosed with CETP-related HALP, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Surveillance Guidelines

To monitor affected individuals, the evaluations summarized in are recommended.

Table 5.

CETP-Related Hyperalphalipoproteinemia: Recommended Surveillance

System/Concern | Evaluation | Frequency

Cardiovascular

| Cardiovascular risk assessment, incl noninvasive assessment of atherosclerotic plaque burden | As clinically indicated