Information on the following diseases can be found in the Related Disorders section of this report:

• Whipple's Disease
• Crohn's Disease
• Ulcerative Colitis
• Primary Sclerosing Cholangitis
• Chronic Erosive Gastritis
• Glucose-Galactose Malabsorption
• Irritable Bowel Syndrome
• Intestinal Pseudoobstruction
• Giant Hypertrophic Gastritis
• Lactose Intolerance

The most obvious sign of the disorder is the massive swelling due to fluid retention (edema) that affects different parts of the body in different ways. Fluid is retained because the dilation and/or obstruction of the lymph vessels prevents normal drainage.

Abdominal pain and/or nausea, vomiting and diarrhea may also be present. The blood lymphocyte count is usually low as are blood protein (because protein in the lymph leaks into the intestine and the feces) and blood cholesterol levels (because cholesterol from food is not properly absorbed).

Diagnosis is commonly arrived at by following the fate of radioactive albumin, administered intravenously. Excessive protein loss is indicated by high concentrations of the “hot” albumin in the stools.

Waldmann Disease is inherited as an autosomal dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Waldmann Disease may also be acquired as a result of inflammation of the lining of the small intestine (tuberculous and granulomatous enteritis), lymphatic cancer (lymphoma), overgrowth of connective tissue along the abdominal wall (retroperitoneal fibrosis), inflammation of the pancreas (pancreatitis), or inflammation of the membranes that surround the heart (constrictive pericarditis).

Waldmann Disease is a rare disease that affects males and females in equal numbers. The symptoms appear mainly during infancy and early adulthood.

Symptoms of the following disorders can be similar to those of Waldmann Disease. Comparisons may be useful for a differential diagnosis:

Whipple's Disease is a rare infectious disease that causes an abnormality in the metabolism and absorption of fats (lipodystrophy) in the small intestine. It is characterized by the impairment of the ability to properly absorb nutrients (malabsorption), anemia, and joint pain. Symptoms of this disorder may include abdominal pain after eating, bouts of diarrhea, coughing, chest pain, general weakness, and night sweats. Some people with Whipple's Disease experience an abnormal swelling of lymph nodes and an abnormally enlarged spleen. (For more information on this disorder, choose "Whipple" as your search term in the Rare Disease Database.)

Crohn's Disease is an inflammatory bowel disease characterized by severe, chronic inflammation of the intestinal wall or any portion of the gastrointestinal tract. Symptoms may include vomiting, fever, night sweats, loss of appetite, general weakness, and waves of abdominal pain and discomfort. Diarrhea, bleeding from the rectum, and weight loss are common in people who have Crohn's Disease. The symptoms of this disorder can be difficult to manage and diagnosis is often delayed. (For information on this disorder, choose "Crohn" as your search term in the Rare Disease Database.)

Ulcerative Colitis is an acute inflammatory bowel disease characterized by multiple, irregular ulcerations of the bowel leading to diarrhea and blood in the stools. The initial symptoms of this disorder may include a general feeling of weakness (malaise) and fatigue. There may be abdominal discomfort, along with a change in the frequency and consistency of stools. Other symptoms may include abdominal cramping, and urgency to have a bowel movement (tenesmus). Weight loss and a decrease in appetite are also associated with Ulcerative Colitis. (For more information on this disorder, choose "Ulcerative Colitis" as your search term in the Rare Disease Database.)

Primary Sclerosing Cholangitis is a rare collagen disorder involving inflammation and blockage of the bile duct, other liver ducts, and gallbladder. Symptoms of this disorder include abdominal pain, loss of appetite, nausea, vomiting, and/or weight loss. Later symptoms may include a yellow discoloration to the skin (jaundice), fever, chills, and/or itching of the skin. Bacterial infections are often associated with bile duct blockages of Primary Sclerosing Cholangitis. (For more information on this disorder, choose "Primary Sclerosing Cholangitis" as your search term in the Rare Disease Database.)

Chronic Erosive Gastritis is an inflammatory digestive disorder characterized by multiple lesions in the mucus lining of the stomach. Symptoms of this disorder may include burning or a heavy feeling in the stomach, mild nausea, vomiting, loss of appetite and general weakness. In severe cases of Chronic Erosive Gastritis there may be bleeding from the stomach that can result in anemia. (For more information on this disorder, choose "Chronic Erosive Gastritis" as your search term in the Rare Disease Database.)

Glucose-Galactose Malabsorption (carbohydrate intolerance) is a rare inherited disorder characterized by the inability of the small intestine to transport and absorb glucose and galactose. The symptoms may include diarrhea, bloating, dehydration, profound loss of appetite, and vomiting. Other symptoms may include abdominal cramps, and rumbling sounds caused by gas in the intestine (borborygmi), and/or excessive urination. (For more information on this disorder, choose "Glucose-Galactose Malabsorption" as your search term in the Rare Disease Database.)

Irritable Bowel Syndrome, also known as Spastic Colon, is a common digestive disorder that involves both the small and large intestine (bowel). This disorder is characterized by abdominal pain, constipation or diarrhea, bloating, nausea, and headache. The spastic colon (large bowel) type of this syndrome is characterized by abdominal pain that is associated with periodic bouts of constipation and/or diarrhea. Those patients with Irritable Bowel Syndrome who have painless diarrhea may experience an urgent need to have a bowel movement upon arising. (For more information on this disorder, choose "Irritable Bowel Syndrome" as your search term in the Rare Disease Database.)

Intestinal Pseudoobstruction is a gastrointestinal disorder characterized by a lack of motility of the intestine. This condition resembles a true obstruction although there is no evidence of any physical obstruction. Symptoms may include constipation, colicky pain, vomiting, and weight loss. Intestinal Pseudoobstruction may also affect speech, muscle activity, and the nervous system. (For more information on this disorder, choose "Intestinal Pseudoobstruction as your search term in the Rare Disease Database.)

Giant Hypertrophic Gastritis is a chronic disorder characterized by the presence of large, coiled ridges or folds, in the inner wall of the stomach. Symptoms include abdominal pain or discomfort and tenderness in the upper middle region of the abdomen. Other symptoms may include a profound loss of appetite, nausea, vomiting, and diarrhea. (For more information on this disorder, choose "Giant Hypertrophic Gastritis" as your search term in the Rare Disease Database.)

Lactose Intolerance is a malabsorption syndrome in which a deficiency of the intestinal enzyme lactase causes impaired absorption of nutrients from the small bowel. Symptoms of may include diarrhea and failure to thrive. Adult symptoms include tumbling noises in the intestines (borborygmi), bloating, and excessive gas (flatus). Abdominal cramps may be present, as well as diarrhea severe enough to interfere with the absorption of other nutrients. (For more information on this disorder, choose "Lactose Intolerance" as your search term in the Rare Disease Database.)

The diagnosis of Waldmann Disease is typically made by removing tissue samples from several areas of the bowel (serial small bowel biopsy) and examining these tissues for signs of abnormal dilation (pathological studies). Treatment of Waldmann Disease may include a low-fat diet supplemented by medium-chain triglycerides to supply essential fatty acids and nutrients (whole whey protein and maltodextrin). The restriction of salt in the diet and the administration of water pills (diuretics) may sometimes be helpful. Occasionally surgical removal of the diseased portion of the intestine may be beneficial if the damage is limited to a local area.

Genetic counseling will be of benefit for people with Waldmann Disease and their families. Other treatment is symptomatic and supportive.

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JOURNAL ARTICLES
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Rust C., Fibrotic entrapment of the small bowel in congenital intestinal lymphangiectasia. Am J Gastroenterol. 1998;93:1980-83.

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Maconi G, et al., Ultrasonographic features of long-standing primary intestinal lymphangiectasia. Eur J Ultrasound. 1998;7:195-98.

Persic M, et al., Intestinal lymphangiectasia and protein losing enteropathy responding to small bowel restriction. Arch Dis Child. 1998;78:194