Primary intestinal lymphangiectasia

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Other Names: Waldmann's disease; Primary intestinal lymphangiectasis; Familial Waldmann's disease (type); Waldmann disease

Primary intestinal lymphangiectasia is a digestive disorder in which the lymph vessels supplying the lining of the small intestine are enlarged. PIL is generally diagnosed before 3 years of age but may be diagnosed in older patients. Prevalence is unknown.

Epidemiology

The prevalence of clinically overt PIL is unknown. However, PIL can be asymptomatic; it primarily affects children (generally diagnosed before 3 years of age) and young adults but may be diagnosed later in adults . Very rare familial forms of Waldmann's disease have been reported.

Cause

To date, PIL etiology is unknown. Intestinal lymphangiectasia is responsible for lymph leakage into the bowel lumen, which leads to hypoalbuminemia and lymphopenia. Edema is the consequence of hypoprotidemia with decreased oncotic pressure. Several genes, such as VEGFR3 (vascular endothelial growth factor receptor 3), prospero-related homeobox-transcriptional factor PROX1, forkhead transcriptional factor FOXC2 and SOX18 are implicated in the development of the lymphatic system.

Signs and symptoms

The signs and symptoms include swelling of the legs and abdominal discomfort, loss of lymphatic fluid into the gastrointestinal tract, protein-losing enteropathy, too little albumin in the blood, reduced levels of antibodies, and immunodeficiency.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Abnormality of the lymphatic system
• Decreased circulating antibody level
• Hypoalbuminemia(Low blood albumin)
• Hypoproteinemia(Decreased protein levels in blood)
• Lymphedema(Swelling caused by excess lymph fluid under skin)
• Lymphopenia(Decreased blood lymphocyte number)
• Pedal edema(Fluid accumulation in lower limbs)

30%-79% of people have these symptoms

• Abdominal pain(Pain in stomach)
• Diarrhea(Watery stool)
• Failure to thrive(Faltering weight)
• Fatigue(Tired)
• Immunodeficiency(Decreased immune function)
• Malabsorption(Intestinal malabsorption)
• Nausea and vomiting
• Weight loss

5%-29% of people have these symptoms

• B-cell lymphoma
• Chylous ascites
• Gangrene(Death of body tissue due to lack of blood flow or infection)
• Hydrops fetalis
• Hypocalcemia(Low blood calcium levels)
• Ileus
• Iron deficiency anemia
• Meningitis
• Osteoporosis
• Pericardial effusion(Fluid around heart)
• Pleural effusion(Fluid around lungs)
• Seizure
• Thickened skin(Thick skin)
• Vaginal lymphocele
• Verrucae(Warts)

Diagnosis

PIL diagnosis is confirmed by the presence of intestinal lymphangiectasia based on endoscopic findings with the corresponding histology of intestinal biopsy specimens.

• Videocapsule endoscopy is also feasible to appreciate the extent of lymphangiectasia in children
• Although various methods have been proposed to investigate PIL, none of them can replace histological examination of biopsies to confirm the diagnosis.

A. Albumin scintigraphy Technetium-labeled human serum albumin (99mTc-HSA) scintigraphy may show marked enhancement in the bowel, which indicates protein leakage into this region B. Ultrasound Indirect features may suggest PIL in children and adults. Ultrasonographic findings may show dilation of the intestinal loops, regular and diffuse thickening of the walls, plical hypertrophy and severe mesenteric edema and, in some cases, ascites C. Computed tomography (CT) scans Axial abdominal CT images are obtained with oral and intravenous contrast medium enhancement. CT appearance of PIL is similar in adults and children. D. Lymphoscintigraphy Lymphoscintigraphy is an effective tool for identifying abnormal lymphatic tree in the upper or lower limb and also to confirm limb lymphedema, when the limb images are abnormal. In limb lymphedema, isotope-uptake seen on the lymphogram shows an absence of visible lymph nodes which indicates either peripheral lymphatic obliteration or inability of the vessels to transport lymph up the limb through incompetent lymphatic vessels.

Treatment

Unfortunately, there is no cure for primary intestinal lymphangiectasia (PIL). It is typically managed through dietary restrictions, including a low-fat diet and supplementation of a specific type of fat more easily absorbed by individuals with this condition (medium chain triglycerides). These restrictions usually continue throughout life. Periodic intravenous (IV) infusion of a protein called albumin may be useful in treating swelling of the lower limbs and/or buildup of excess bodily fluids. Use of certain hormones, such as octreotide, may be useful in treating individuals not responding to dietary changes. Surgery is usually not needed unless the disease is limited to one area of the intestine.

Prognosis

Generally, the earlier the onset of primary intestinal lymphangiectasia, the more severe the disease. If the disease is apparent in the newborn period or the first few months of life, symptoms may include massive edema, diarrhea, malabsorption, and infection.[1] Still, infants with this disease can (and have) survived into adulthood. Because the severity of symptoms in infants can vary, the infants healthcare providers are best able to provide specific information regarding a child's prognosis.

Latest research

• Most recent articles
• Ongoing trials

NIH genetic and rare disease info

• NIH info on Primary intestinal lymphangiectasia

Primary intestinal lymphangiectasia is a rare disease.

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