Familial Chylomicronemia Syndrome | Symptoms and Diagnosis
Familial Chylomicronemia Syndrome
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Symptoms and Diagnosis

Clinical Signs and Symptoms
Individuals with FCS often present with abdominal pain, repetitive colicky pains, and repetitive episodes of pancreatitis. Failure to thrive also has been reported.4,5

Other common symptoms and/or signs of FCS include the development of skin lesions known as eruptive xanthoma, a creamy appearance of the retinal blood vessels (lipaemia retinalis), and/or abnormal enlargement of the liver and/or spleen (hepatosplenomegaly).4,5 A routine blood sample may often reveal the condition since it is often been described as ‘creamy’ due to the high chylomicron levels.

Most persons with FCS are diagnosed by age 10, but some may not be diagnosed until young adulthood since lipid levels are routinely not measured in children.

Diagnosis
FCS typically presents early in childhood with severe hypertriglyceridemia, recurrent episodes of severe abdominal pain, a lower tolerance to dietary fat, and failure to thrive (infancy). Presentation in the absence of secondary causes – such as diabetes, alcohol consumption, hormone intake, paraproteinemia, and treatment with antihypertensive agents – profoundly increases the likelihood of FCS as a diagnosis.6

When diagnosing a patient, consider the following
FCS presents as chylomicronemia (generally TGs greater than 1000 mg/dL) and potentially is found with 1 of the following:3,6,7
  • Eruptive xanthoma: Small yellowish papules – frequently with a reddish base – appearing predominantly on the buttocks and elbows, caused by deposits of large amounts of chylomicron triglycerides
  • Lipemia retinalis: Pink retina with a creamy appearance – the retinal vessels are white
  • Abdominal findings: Abdominal pain, acute pancreatitis, and/or hepatosplenomegaly
  • Reduced to normal VLDL level

There is no clear diagnostic profile for FCS. A diagnosis of FCS in current clinical practice is mainly based on clinical findings, time of onset, family history and lipid profile by ultracentrifugation. Relevant historical information will likely include a family history of lipid disorders and/or a personal history of abdominal pain or pancreatitis. Moreover, fasting lactescent plasma (i.e., creamy looking blood sample) typically is the trigger to further work up and ultimate diagnosis.3,4

Young Adults and FCS
Signs and Symptoms of FCS
Diagnosing FCS
Milky Blood Samples with FCS
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