Waldmann's disease

Waldmann's Disease Waldmann's Disease, also known as Primary Intestinal Lymphangiectasia, is a rare disorder characterized by the loss of lymphatic fluid into the gastrointestinal tract. This condition leads to a variety of symptoms due to the loss of proteins and lymphocytes, which are crucial components of the immune system.

Waldmann's disease - overview

Waldmann's Disease is named after Dr. Thomas A. Waldmann, who first described the condition in 1961. It is a type of protein-losing enteropathy, where proteins are lost from the body through the intestines. The disease primarily affects the lymphatic vessels of the small intestine, leading to their dilation and dysfunction.

Pathophysiology

The underlying cause of Waldmann's Disease is the abnormal development or obstruction of the lymphatic vessels in the intestinal wall. This results in the leakage of lymph fluid, which contains proteins, fats, and lymphocytes, into the intestinal lumen. The loss of these components can lead to several complications, including:

• Hypoproteinemia: Low levels of protein in the blood, leading to edema and other systemic effects.
• Lymphopenia: A reduction in lymphocyte count, compromising the immune system.
• Hypogammaglobulinemia: Low levels of immunoglobulins, increasing susceptibility to infections.

Symptoms

The symptoms of Waldmann's Disease can vary but often include:

• Edema: Swelling due to fluid retention, often in the legs and abdomen.
• Diarrhea: Frequent, loose stools due to malabsorption.
• Weight loss: Resulting from nutrient malabsorption.
• Fatigue: Due to protein and nutrient deficiencies.

Diagnosis

Diagnosis of Waldmann's Disease typically involves a combination of clinical evaluation, laboratory tests, and imaging studies. Key diagnostic steps include:

• Blood tests: To check for low protein levels and lymphocyte counts.
• Stool tests: To measure the loss of proteins in the stool.
• Endoscopy: To visualize the intestinal mucosa and obtain biopsies.
• Lymphangiography: Imaging to assess the lymphatic system.

Treatment

Treatment of Waldmann's Disease focuses on managing symptoms and preventing complications. Common approaches include:

• Dietary modifications: A low-fat, high-protein diet supplemented with medium-chain triglycerides (MCTs) to reduce lymphatic pressure.
• Nutritional support: Including vitamin and mineral supplements to address deficiencies.
• Medications: Such as diuretics to manage edema and immunoglobulin replacement therapy for immune support.

Prognosis

The prognosis for individuals with Waldmann's Disease varies. With appropriate management, many patients can lead relatively normal lives, although they may require ongoing treatment and monitoring.

See Also

• Protein-losing enteropathy
• Lymphatic system disorders
• Hypoproteinemia

References

- Waldmann, T. A., et al. "Primary Intestinal Lymphangiectasia: A Study of 18 Cases." *The New England Journal of Medicine*, vol. 265, no. 18, 1961, pp. 761-769. - "Intestinal Lymphangiectasia." *Orphanet Journal of Rare Diseases*.

NIH genetic and rare disease info

• NIH info on Waldmann's disease

Waldmann's disease is a rare disease.