Dysbetalipoproteinemia (Type III) Research Study - Diagnosis and Followup Protocol
If you have Dysbetalipoproteinemia (Type III), you are invited to participate in a study in an attempt to diagnose and follow your disorder. There are several known causes of Dysbetalipoproteinemia and they include the E2E2 isoforms of apolipoprotein E (apoE), a mutation in apoE or apoE deficiency. Most untreated patients have a total cholesterol and triglycerides of 400-500 mg/dL. Some patients present with cholesterol deposits across the creases of their hands (palmar xanthomas), tuberous xanthomas on the elbows or knees and occasionally on the achilles tendon.
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).