The rare digestive disorder known as Waldmann's disease or Primary intestinal lymphangiectasia (PIL) happens when the lymphatic vessels supplying the small intestine become abnormally enlarged or dilated.
It typically affects children and young adults, although it can also occur later in life in adults. In most cases, the diagnosis is made before a child ages 3.
Presently, scientists and doctors have yet to learn the reason why Waldmann's disease occurs.
Swelling of the lower extremities, and later the face, abdomen, and external genitalia, is the most distinctive feature of this condition due to the low amounts of albumin in the blood. It may be difficult to tell the difference between edema and lymphedema, which can occur together.
Possible symptoms include a dull ache in the belly, nausea, diarrhea, fatigue, poor appetite, and a failure to gain weight during childhood.
Protein (albumin, globulins) and cholesterol (LDL and HDL) levels in the blood are reduced. The lymphocyte count is also typically low because lymph protein seeps into the gut and feces, a condition known as exudative enteropathy (because cholesterol from food is not properly absorbed).
The fluid accumulation may result in pericarditis (swelling of the membrane surrounding the heart), pleural effusion (fluid in the lungs), or ascites (fluid in the abdomen). Rare but potentially fatal complications in children include widespread body swelling (anasarca).
A flexible scope (endoscope) is used to view the intestine, then biopsies are taken from multiple locations, and the removed tissue is examined for symptoms of aberrant dilatation.
This evaluation is unusually normal, so video capsule endoscopy could be helpful if the endoscopic findings are inconclusive.
If there is a lot of alpha-1 antitrypsin in the stools, it may mean that lymph is leaking from the intestines.
On a prenatal ultrasound, edema of the lower limbs or all over the body could signify Waldermann's disease.
Treatment
The treatment for PIL may consist of an extremely low-fat diet followed for an extended period. Essential fatty acids and nutrients linked with fat-soluble vitamins, such as vitamin D, may be supplied by a diet supplemented with medium-chain triglycerides.
There are occasions when it would be beneficial to take diuretics. An albumin infusion is sometimes suggested as a treatment option for patients with significant severe lower limb edema.
If the damage is confined to a specific region of the intestine, it may be recommended that the diseased segment of the intestine be removed through surgery.
In addition to making dietary adjustments, octreotide may be recommended for certain people.
Lymphedema that is connected with the lower limbs can be stabilized with the use of compression stockings.
Unfortunately, Waldmann's disease is unpreventable; however, following the recommended diet by the doctor will control the symptoms.
References
Vignes, S., & Bellanger, J. (2008). Primary intestinal lymphangiectasia (Waldmann's disease). Orphanet journal of rare diseases, 3, 5. https://doi.org/10.1186/1750-1172-3-5
National Organization for Rare Diseases (2021). Primary Intestinal Lymphangiectasia. Retrieved December 26, 2022, from https://rarediseases.org/rare-diseases/primary-intestinal-lymphangiectasia/
