Primary intestinal lymphangiectasia (PIL), also called Waldmann's disease, is a disorder that causes protein to be lost from the intestines. In Waldmann's disease, the lymph vessels that supply the lining (lamina propria) of the small intestine are abnormally enlarged. This causes lymph (which contains protein) to leak into the intestine.
Swelling (edema) of the legs (main symptom) Fatigue Abdominal pain Weight loss Moderate diarrhea Fat-soluble vitamin deficiency
Diagnosis of PIL is often made in childhood, usually before age 3. The presence of PIL is suggested by edema of the legs. It is confirmed by examining the inside of the small intestine (endoscopy). A sample of the intestine (biopsy) is taken and examined under a microscope. In PIL, the lymph vessels will be abnormally enlarged. Other tests that suggest the presence of PIL include low levels of protein in the blood (hypoproteinemia or hypoalbuminemia) and high levels of protein in the stool (24-hour stool alpha-1 antitrypsin clearance). Some studies that look inside the intestine, such as ultrasound or a computed tomography (CT) scan, may be done.
The main treatment for PIL is a low-fat diet with medium-chain triglyceride (MCT) supplements. After a few week of treatment, the level of protein in the blood rises toward normal. This diet must be continued for life to keep the symptoms under control. Other treatments have been studied but more research is needed on their effectiveness in treating PIL.