Management Guidelines
Clinical practice guidelines for chylomicron retention disease (CMRD) have been published based primarily on expert opinion .
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with CMRD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 4.
Recommended Evaluations Following Initial Diagnosis in Individuals with Chylomicron Retention Disease
System/Concern | Evaluation | Comment
General
| Growth parameters | To assess for poor growth
Gastrointestinal
| Plasma lipid profile:
Total cholesterol
LDL cholesterol
HDL cholesterol
Triglyceride
Apo B
Apo A-I
| Normal TG levels are characteristic, while other lipid/lipoprotein variables are usually depressed.
Serum concentration of fat-soluble vitamins (A, D, E) INR |
Liver transaminases (AST ALT), GGT, total bilirubin, alkaline phosphatase |
Abdominal ultrasound, typically after age 10 yrs | To evaluate for hepatomegaly steatosis
Referral to nutritionist | To provide dietary advice re low-fat diet
Hematologic
| INR | Prolongation of INR may result from vitamin K deficiency.
Consider CBC. | Anemia mild acanthocytosis has only rarely been reported.
Ophthalmologic
| Consider referral to ophthalmologist, typically after age 10 yrs, unless there are clinical signs/symptoms before age 10 yrs. | • To evaluate visual acuity for baseline fundus exam
Consider visual evoked potential electroretinography in those w/concerning symptoms.
Source: GeneReviews — "Chylomicron Retention Disease"
