Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation

Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

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Gastrointestinal Cryptococcosis Associated with Intestinal Lymphangiectasia

Case Reports in Medicine ◽

10.1155/2020/7870154 ◽

2020 ◽

Vol 2020 ◽

pp. 1-5

Author(s):

Fernando Naranjo-Saltos ◽

Alejandro Hallo ◽

Carlos Hallo ◽

Andres Mayancela ◽

Alejandra Rojas

Keyword(s):

Opportunistic Infections ◽

Lymphatic Vessels ◽

Immunocompetent Patient ◽

Intestinal Lumen ◽

Histopathological Study ◽

Intestinal Lymphangiectasia ◽

Protein Losing Enteropathy ◽

Unusual Association ◽

Intestinal Involvement ◽

Cellular Components

Intestinal lymphangiectasia is a pathological dilation of enteric lymphatic vessels resulting in lymph leakage to the intestinal lumen. This chronic lymph leakage leads to a state of immunosuppression secondary to the loss of humoral and cellular components of the immune system and represents a potential risk factor for opportunistic infections. We report a case of protein-losing enteropathy in a seemingly immunocompetent patient. An intestinal histopathological study revealed the unusual association of lymphangiectasia and intestinal cryptococcosis. Although cryptococcal infection is common in immunocompromised patients, intestinal involvement is rarely reported. We found no reports on the association of intestinal cryptococcosis in patients with lymphangiectasia. This case report is the first to describe intestinal cryptococcosis associated with intestinal lymphangiectasia.

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Resolution of longstanding protein-losing enteropathy in a patient with intestinal lymphangiectasia after treatment for malignant lymphoma

Gastroenterology ◽

10.1016/0016-5085(81)90208-0 ◽

1981 ◽

Vol 80 (1) ◽

pp. 166-168 ◽

Cited By ~ 27

Author(s):

Samuel Broder ◽

Thomas R. Callihan ◽

Elaine S. Jaffe ◽

Vincent T. DeVita ◽

Warren Strober ◽

...

Keyword(s):

Malignant Lymphoma ◽

Intestinal Lymphangiectasia ◽

Protein Losing Enteropathy

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A Case of Protein-Losing Enteropathy Caused by Intestinal Lymphangiectasia in a Preterm Infant

PEDIATRICS ◽

10.1542/peds.107.2.416 ◽

2001 ◽

Vol 107 (2) ◽

pp. 416-417 ◽

Cited By ~ 21

Author(s):

G. Salvia ◽

C. F. Cascioli ◽

F. Ciccimarra ◽

G. Terrin ◽

S. Cucchiara

Keyword(s):

Preterm Infant ◽

Intestinal Lymphangiectasia ◽

Protein Losing Enteropathy

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Lymphatics in the Alimentary Tract of Children in Health and Disease: Study on Mucosal Biopsies Using the Monoclonal Antibody D2-40

Pediatric and Developmental Pathology ◽

10.1007/s10024-005-0023-x ◽

2005 ◽

Vol 8 (5) ◽

pp. 541-549 ◽

Cited By ~ 14

Author(s):

Yiping Zeng ◽

Fenghua Wang ◽

Elizabeth D. Williams ◽

Chung Wo Chow

Keyword(s):

Clinical Features ◽

Alimentary Tract ◽

Lymphatic Vessels ◽

Specific Method ◽

Intestinal Lymphangiectasia ◽

Histologic Diagnosis ◽

Protein Losing Enteropathy ◽

Negative Finding ◽

Young Infants ◽

Disease Study

Primary intestinal lymphangiectasia and intestinal lymphatic hypoplasia are 2 causes of protein-losing enteropathy in children and share many common clinical features. For the diagnosis of lymphatic hypoplasia on endoscopic biopsies of the intestine, i.e., based on a negative finding in a small specimen, a very sensitive and specific method for identifying lymphatics is essential. In the present study, lymphatic vessels were labelled using D2-40 immunostaining in mucosal biopsy specimens of the alimentary tract of children in whom no histologic abnormality was noted and of those who had different relatively common pediatric conditions, including inflammatory and neoplastic diseases. Using this method, lymphatic vessels were well visualized even in young infants and not destroyed by diseases. The presence of the muscularis mucosae in specimens was important for adequate assessment. In the duodenum and esophagus, lymphatics were observed in every single section; in the stomach, ileum, and colon, they were less regular and several sections were sometimes required. The extreme sensitivity of this method for demonstrating lymphatic vessels in the duodenum makes it ideal for the histologic diagnosis of intestinal lymphatic hypoplasia. In 4 patients who were considered to have this diagnosis based on clinical features, full-thickness intestinal biopsies and electron microscopy, D2-40 immunostaining confirmed the absence or marked paucity of lymphatics.

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Intestinal lymphangiectasia in dogs, challenging diagnosis: Four cases

Veterinarski glasnik ◽

10.2298/vetgl170228007d ◽

2017 ◽

Vol 71 (1) ◽

pp. 52-57

Author(s):

Darko Davitkov ◽

Maja Vasiljevic ◽

Dajana Davitkov ◽

Anja Bozovic-Ilic ◽

Milena Djordjevic ◽

...

Keyword(s):

Weight Loss ◽

Chronic Diarrhea ◽

Clinical Signs ◽

Abdominal Ultrasound ◽

Small Animals ◽

Intestinal Lymphangiectasia ◽

Protein Losing Enteropathy ◽

Clinicopathological Findings ◽

Abdominal Palpation ◽

Uncommon Disease

Intestinal lymphangiectasia is an uncommon disease which can cause severe, chronic protein-losing enteropathy in dogs. Four dogs were presented at the Belgrade Clinic for Small Animals with clinical signs of chronic diarrhea, lethargy, anorexia, vomiting and weight loss. Abnormal physical examination findings included dehydration, signs of pain on abdominal palpation, and ascites. The most important clinicopathological findings were lymphopenia and hypoproteinemia with hypoalbuminemia. Abdominal ultrasound revealed intestinal abnormalities in all dogs. To establish an undoubted diagnosis of intestinal lymphangiectasia, endoscopy and histopathology were conducted.

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