ABSTRACT
BACKGROUND/AIMS: We classified intestinal lymphangiectasia (IL) into two categories, the white and non-white villi types, and evaluated their clinical characteristics and therapeutic responses. METHODS: Of the 988 patients who underwent double-balloon enteroscopy, 14 consecutive patients (7 men and 7 women, median age at onset 34 years) were enrolled with immunohistochemically confirmed IL with protein-losing enteropathy. RESULTS: Enteroscopically the white villi type (n = 8) showed white plaques and white-tipped villi were scattered in the small bowel, while non-white villi type (n = 6) showed that apparently normal but under more detailed observation, low and round villi with a normal color were diffused. The serum albumin levels and fecal α1-antitrypsin clearance before treatment were significantly worse in the non-white villi type (p = 0.017 and 0.039, respectively), whereas the serum immunoglobulin A and M levels were significantly lower in the white villi type (p = 0.010 and 0.046, respectively). At gastroscopy, a non-cirrhotic snakeskin appearance was significantly observed in the non-white villi type (p = 0.015). The corticosteroid response was better in the non-white villi type (p = 0.015). CONCLUSION: Two distinct subgroups were found in IL. This classification was useful in pathophysiological clustering and in predicting the therapeutic response.
Subject(s)
Duodenal Diseases/pathology , Jejunal Diseases/pathology , Lymphangiectasis, Intestinal/pathology , Protein-Losing Enteropathies/pathology , Adolescent , Adult , Age of Onset , Child , Child, Preschool , Double-Balloon Enteroscopy , Duodenal Diseases/blood , Duodenal Diseases/classification , Duodenal Diseases/drug therapy , Duodenal Diseases/etiology , Feces/chemistry , Female , Glucocorticoids/therapeutic use , Humans , Infant , Infant, Newborn , Jejunal Diseases/blood , Jejunal Diseases/classification , Jejunal Diseases/drug therapy , Jejunal Diseases/etiology , Lymphangiectasis, Intestinal/blood , Lymphangiectasis, Intestinal/classification , Lymphangiectasis, Intestinal/complications , Lymphangiectasis, Intestinal/drug therapy , Male , Middle Aged , Prednisolone/therapeutic use , Prognosis , Protein-Losing Enteropathies/blood , Protein-Losing Enteropathies/drug therapy , Protein-Losing Enteropathies/etiology , alpha 1-Antitrypsin/analysisABSTRACT
Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments, massage, good skin hygiene and prompt use of antibiotics to avoid the complication of cellulitis. Most commonly, lymphoedema occurs as a result of damage to the lymphatic system following surgery, trauma, radiation or infection. However, it can be primary, often associated with a genetic defect that causes disruption to the development of the lymphatic system. Common genetic conditions associated with lymphoedema include Turner syndrome and Noonan syndrome; however, there are numerous others that can be classified based on their clinical presentation and associated features. Herein we discuss how to diagnose and classify the known primary lymphoedema conditions and how best to investigate and manage this group of patients.