Chylomicron Retention Disease Research Study - Diagnosis and Followup Protocol
If you have Chylomicron Retention disease, you are invited to participate in a study in an attempt to diagnose and follow your disorder. Most patients will present with diarrhea, fat malabsorption, growth delay, and neurologic symptoms (decreased deep tendon reflexes, vibration). Patients frequently have a total cholesterol ranging from 50-100 mg/dL and half normal low density lipoproteins (LDL) levels. Fat soluble vitamin levels may be decreased.
Eligible persons will undergo a comprehensive evaluation at no cost to you. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In many cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel and for some of your medications.
for further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov).