Diagnostic evaluation of hypertriglyceridemia
Step-by-Step diagnostic workup:
Identifying hypertriglyceridemia (HTG)
HTG is diagnosed when triglyceride levels are 200 mg/dL (2 mmol/L) or higher. Severe HTG is diagnosed at levels above 885 mg/dL (10 mmol/L).1,2
Excluding secondary causes
HTG can be caused by various factors such as an unhealthy lifestyle, specific medications, or an underlying medical condition.
These factors should be excluded and treated accordingly.2
Genetic testing
People with severe HTG (> 885 mg/dL; 10 mmol/L) often have a hereditary predisposition to hypertriglyceridemia.
This means the disorder is due to genetic factors and occurs more frequently in their family.
Genetic testing is recommended to confirm this predisposition.1
Should you have a genetic test be made?
Use this questionnaire to find out:
Use the following questions to assess whether genetic testing could be indicated.1 You can download the questions as an interactive PDF here.
TRIGLYCERIDES
Do you often suffer from abdominal pain or have you ever had pancreatitis?
The genetic form of HTG, known as FCS*, often causes recurrent inflammation of the pancreas, which is due to permanently elevated triglyceride levels.
Do you have persistently high triglycerides (levels above 885 mg/dL)?
In genetic forms of HTG triglyceride levels remain extremely high even when you are fasting.
Have lipid-lowering medications been ineffective in the past?
FCS*-related HTG often does not respond to conventional lipid-lowering medications.
Is there a family history of unexplained lipid disorders?
If there is a genetic predisposition similar cases may occur in the family.
Did your symptoms begin before the age of 20?
If there is a genetic predisposition the symptoms often begin in childhood.
*FCS = familial chylomicronemia syndrome
If several of these points apply to you, it is important to consult a specialist in lipid disorders (lipidologist). for a thorough diagnosis and possible genetic testing.
Find your expert at OrphanetReferences
- Moulin P, et al. Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an ”FCS score”. Atherosclerosis. 2018;275:265-72
- Laufs U, et al. Clinical review on triglycerides. European Heart Journal (2020) 41, 99–109.
Pancreatitis – what is it?
Acute pancreatitis is a sudden inflammation of the pancreas. The primary symptom is severe, sudden pain in the upper abdomen. Other symptoms may include nausea and vomiting.
Hypertriglyceridemia - signs & symptoms
Severely high triglyceride levels are associated with a broad spectrum of non-specific symptoms. If you experience any of these symptoms, it is important to get your triglyceride levels tested.
Causes of high triglyceride levels
High triglyceride levels, also known as hypertriglyceridemia, indicate a disorder of fat metabolism. This can have multiple causes…