Familial lipoprotein lipase deficiency
Alternate Names : Type I hyperlipoproteinemia, Familial chylomicronemia
Symptoms & Signs
- Abdominal pain (may appear as colic in infancy)
- Loss of appetite
- Nausea
- Pain in the muscles and bones (musculoskeletal pain)
- Vomiting
Diagnosis & Tests
Signs of this condition include: - Failure to thrive in infancy
- Fatty deposits in the skin (xanthomas)
- Many unexplained episodes of pancreatitis
- Pale retinas and white-colored blood vessels in the retinas
- Swollen liver and spleen
- Very high triglycerides in the blood
- Yellowing of the eyes and skin (jaundice)
Blood tests will be done to check cholesterol and triglyceride levels. A special blood test may be done after you are given blood thinners through a vein. This test looks for lipoprotein lipase activity in your blood. Genetic tests may be done, including one for apolipoprotein CII deficiency.
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