Waldmann’s Disease Revealed by Chronic Diarrhea and Lymphedema: Case Report

Intestinal lymphangiesctasia (IL) is a rare disease characterized by the dilation of intestinal lymphatics. It can be classified as primary or secondary depending on the underlying etiology. Usually seen in childhood or adolescence, chronic diarrhea and diffuse edema are the main clinical manifestations of the disease. True lymphoedemas can also be present and affect the lower and upper limbs, they are concomitant with the diagnosis or occur during the course. The diagnosis is based on the visualization of duodenal lymphangiesctasia. The primitive nature of the disease being affirmed by the elimination of the diseases causing secondary lymphangiectasias. Treatment is based on a strict hypo lipid diet enriched with medium chain triglycerides (MCTs). We present through this work the observation of a 12-month-old infant who presented with primary intestinal lymphangiesctasia revealed by chronic diarrhea with lymphoedema of the left upper limb.

Assessing Lymphatic Uptake of Lipids Using Magnetic Resonance Imaging: A Feasibility Study in Healthy Human Volunteers with Potential Application for Tracking Lymph Node Delivery of Drugs and Formulation Excipients

Dietary lipids and some pharmaceutical lipid excipients can facilitate the targeted delivery of drugs to the intestinal lymphatics. Here, the feasibility of magnetic resonance imaging (MRI) for imaging lipid uptake into the intestinal lymphatics was assessed, shedding light on which lymph nodes can be targeted using this approach. Three healthy male volunteers were scanned at 3.0 T at baseline, 120, 180, 240, and 300 min post high-fat meal. A sagittal multi-slice image was acquired using a diffusion-weighted whole-body imaging sequence with background suppression (DWIBS) (pre inversion TI = 260 ms). Changes in area, major, and minor axis length were compared at each time point. Apparent diffusion coefficient (ADC) was calculated (b = 0 and 600 s/mm2) across eight slices. An average of 22 nodes could be visualised across all time points. ADC increased at 120 and 180 min compared to the baseline in all three participants by an average of 9.2% and 6.8%, respectively. In two participants, mean node area and major axis lengths increased at 120 and 180 min relative to the baseline. In conclusion, the method described shows potential for repeated lymph node measurements and the tracking of lipid uptake into the lymphatics. Further studies should focus on methodology optimisation in a larger cohort.

Chronic peripheral oedema and lymphoedema

Lymph transport, not venous reabsorption, is the main process responsible for interstitial fluid drainage. Oedema develops when the microvascular filtration rate exceeds lymph drainage for a sufficient period, and any chronic oedema represents a failure of lymph drainage. In practice, any chronic oedema should be managed in the same way as lymphedema. The primary function of the lymphatic vessels is to drain the plasma filtrate within body tissues and return it to the blood circulation. Lymphatic vessels also have an important immune surveillance function, as they are the main drainage route from the tissues for immune active cells such as dendritic cells, lymphocytes, and macrophages. Intestinal lymphatics are responsible for fat absorption. Impaired lymphatic function leads to disturbed fluid homeostasis (swelling), dampened immune responses (infection), and disturbed fat homeostasis (increased peripheral fat deposition), all features of lymphoedema. Lymphatic vessels are also the preferential route for cancer spread.

Intestinal lymphangiectasia: case report

Primary intestinal lymphangiectasia (PIL) was first described by Waldmann et al, in 1961. PIL is a rare disease with several hundred reported cases. It is rarely reported in adults because it is presumably a congenital disorder and when present in adults it typically produces a long duration of manifestation such as diarrhea, abdominal distention from ascites, and peripheral edema. This disorder is characterized by markedly dilated intestinal lymphatics, hypoproteinemia, generalized edema, lymphocytopenia hypogammaglobinemia, and immunologic anomalies. The loss of protein into the from dilated intestinal lymphatics leads to the development of hypoproteinemia in these patients and its demonstration is important in the diagnosis of intestinal lymphangiectasia. The disease can be secondary to congenital, secondary or idiopathic defects in the formation of the lymphatic ducts. In the present report, we describe a case of 15 years old female presented to our hospital with history of generalized edema, bilateral hand spasm, and diarrhea. Endoscopy of the patient revealed White spots (dilated lacteals), white nodules, and submucosal elevations were observed. Changes suggestive of the disease includes White villi and/or spots (dilated lacteals), white nodules, and submucosal elevations are observed. Xanthomata’s plaques are often visualized, there are no specific treatments for patients with PIL. treatment of patients with primary intestinal lymphangiectasia involves control of symptoms with the use of dietary, pharmaceutical, and behavioral modifications.

Organ-specific lymphatic vasculature: From development to pathophysiology

Recent discoveries of novel functions and diverse origins of lymphatic vessels have drastically changed our view of lymphatic vasculature. Traditionally regarded as passive conduits for fluid and immune cells, lymphatic vessels now emerge as active, tissue-specific players in major physiological and pathophysiological processes. Lymphatic vessels show remarkable plasticity and heterogeneity, reflecting their functional specialization to control the tissue microenvironment. Moreover, alternative developmental origins of lymphatic endothelial cells in some organs may contribute to the diversity of their functions in adult tissues. This review aims to summarize the most recent findings of organotypic differentiation of lymphatic endothelial cells in terms of their distinct (patho)physiological functions in skin, lymph nodes, small intestine, brain, and eye. We discuss recent advances in our understanding of the heterogeneity of lymphatic vessels with respect to the organ-specific functional and molecular specialization of lymphatic endothelium, such as the hybrid blood-lymphatic identity of Schlemm’s canal, functions of intestinal lymphatics in dietary fat uptake, and discovery of meningeal lymphatic vasculature and perivascular brain lymphatic endothelial cells.

Primary intestinal lymphangiectasia: A rare cause of diarrhea in adults diagnosed by capsule endoscopy and double balloon enteroscopy

Primary intestinal lymphangiectasia (PIL) or Waldmann’s disease is a rare protein-losing enteropathy presenting with diarrhea. The etiology and prevalence of PIL remain unknown. <200 cases have been reported in the literature so far. Diagnosis of intestinal lymphangiectasia is difficult as there are no serological or radiological tests available. Small bowel imaging modalities like capsule endoscopy and double balloon enteroscopy have increased the chances of diagnosis of PIL due to direct visualization of small bowel. Diagnosis is confirmed by characteristic histopathological finding, which includes dilated intestinal lymphatics with broadened villi of the small bowel. We report a case of a patient with chronic diarrhea who was extensively worked up before he was finally diagnosed to have PIL involving the small bowel by performing balloon enteroscopy-guided biopsy.