What is the diagnosis for a patient with hypercholemboaria, hypertriglyceridemia, low HDL (High-Density Lipoprotein) cholesterol, and hyperlipidemia (elevated LDL (Low-Density Lipoprotein) cholesterol)?

Medical Advisory BoardAll articles are reviewed for accuracy by our Medical Advisory Board
Educational purpose only • Exercise caution as content is pending human review
Article Review Status
Submitted
Under Review
Approved

Last updated: March 31, 2025View editorial policy

Personalize

Help us tailor your experience

Which best describes you? Your choice helps us use language that's most understandable for you.

Differential Diagnosis

The patient's lipid profile shows elevated total cholesterol, triglycerides, and LDL cholesterol, along with low HDL cholesterol. Based on these results, the following differential diagnoses can be considered:

  • Single most likely diagnosis
    • Familial Hypercholesterolemia: This genetic disorder is characterized by very high levels of LDL cholesterol, which is consistent with the patient's LDL cholesterol level of 188 mg/dL. The high LDL/HDL ratio of 4.9 also supports this diagnosis.
  • Other Likely diagnoses
    • Combined Hyperlipidemia: This condition is characterized by elevated levels of both cholesterol and triglycerides, which is consistent with the patient's lipid profile.
    • Dysbetalipoproteinemia: This rare genetic disorder is characterized by elevated levels of VLDL and IDL cholesterol, which can lead to high levels of triglycerides and LDL cholesterol.
    • Metabolic Syndrome: This condition is characterized by a cluster of symptoms, including high blood pressure, insulin resistance, and abnormal lipid profiles, which can increase the risk of cardiovascular disease.
  • Do Not Miss
    • Hypothyroidism: This condition can cause elevated levels of LDL cholesterol and triglycerides, and can have serious consequences if left untreated.
    • Nephrotic Syndrome: This condition can cause elevated levels of LDL cholesterol and triglycerides, and can lead to serious complications such as kidney failure if left untreated.
    • Liver Disease: Certain liver diseases, such as cirrhosis or liver cancer, can cause abnormal lipid profiles and can have serious consequences if left untreated.
  • Rare diagnoses
    • Lipoprotein Lipase Deficiency: This rare genetic disorder is characterized by very high levels of triglycerides, which can lead to pancreatitis and other serious complications.
    • Apolipoprotein C-II Deficiency: This rare genetic disorder is characterized by very high levels of triglycerides, which can lead to pancreatitis and other serious complications.
    • Tangier Disease: This rare genetic disorder is characterized by very low levels of HDL cholesterol, which can increase the risk of cardiovascular disease.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

Have a follow-up question?

Our Medical A.I. is used by practicing medical doctors at top research institutions around the world. Ask any follow up question and get world-class guideline-backed answers instantly.