NORD gratefully acknowledges Stéphane Vignes, MD, Department of Lymphology, Centre de Référence des Maladies Vasculaires Rares, Hôpital Cognacq-Jay, Paris, for assistance in the preparation of this report.
Primary intestinal lymphangiectasia (PIL) is a rare digestive disorder characterized by abnormally enlarged (dilatated) lymph vessels supplying the lining of the small intestine. The main symptoms are swelling (edema) of the limbs and abdominal discomfort. The disorder is usually diagnosed before three years of age but is sometimes diagnosed later in life.
The most obvious sign of the disorder is moderate to severe swelling in the lower limbs, eventually face, abdomen and external genitalia due to fluid retention (edema). Fluid is retained because the blood protein (albumin) levels are low. Lymphedema may also be associated and not easy to differentiate from edema.
Abdominal pain and/or nausea, vomiting and diarrhea may also be present. Affected individuals may experience fatigue, weight loss, and an inability to gain weight in childhood. The blood lymphocyte count is usually low as are blood protein (albumin, globulins because protein in the lymph leaks into the intestine and the feces called exudative enteropathy) and blood cholesterol levels (because cholesterol from food is not properly absorbed).
Swelling of the membrane surrounding the heart (pericarditis) and fluid in the chest (pleural effusion) or ascites (abdominal effusion) can occur. Extreme generalized swelling of the body (anasarca) can be a rare life threatening complication in children.
PIL is a rare disease that affects males and females in equal numbers. The prevalence is unknown.
The diagnosis of PIL is made by viewing the intestine with a flexible scope (endoscope), removing tissue samples from several areas (biopsy) and examining these tissues for signs of abnormal dilation. This exam is rarely normal and videocapsule endoscopy may be useful when endoscopic findings are not contributive. Intestinal lymph oozing may be confirmed by the increased clearance of alpha-1 antitrypsin in the stools.
PIL may be suspected on a prenatal ultrasound if edema of lower limbs or generalized edema is noted.
Treatment of PIL may include a strictly low-fat long-term diet supplemented by medium-chain triglycerides to supply essential fatty acids and nutrients associated with fat-soluble vitamin such as vitamin D. The need for dietary control appears to be permanent, because clinical and biochemical findings reappear after low-fat diet interruption. The administration of water pills (diuretics) may sometimes be helpful. Albumin infusion is sometimes proposed in patients with important serous effusion or uncomfortable lower limb edema. Very occasionally surgical removal of the diseased portion of the intestine may be beneficial if the damage is limited to a local area. In some cases, octreotide is proposed in association with the diet. Compression stocking is used to stabilize in associated lower limb lymphedema.
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