Waldmann’s disease: a rare cause of protein losing enteropathy in an adult patient

Abstract

Primary intestinal lymphangiectasia or Waldmann's disease is an uncommon cause of protein losing enteropathy with an unknown etiology and is usually diagnosed during childhood. It is characterized by dilation and leakage of intestinal lymph vessels leading to hypoalbuminemia, hypogammaglobulinemia and lymphopenia. Differential diagnosis should include erosive and nonerosive gastrointestinal disorders, conditions involving mesenteric lymphatic obstruction and cardiovascular disorders that increase central venous pressure. Since there are no accurate serological or radiological available tests, enteroscopy with histopathological examination based on intestinal biopsy specimens is currently the gold standard diagnostic modality of intestinal lymphangiectasia. We report a rare case of a primary intestinal lymphangiectasia in a 60-year-old Caucasian female who presented with asymptomatic hypoalbuminemia and hypogammaglobulinemia. After the diagnosis of a protein losing enteropathy, the patient underwent an enteroscopy and biopsies were taken, whose histological examination confirmed dilated intestinal lymphatics with broadened villi of the small bowel. Secondary causes of intestinal lymphangiectasia were excluded and the diagnosis of Waldmann's disease was recorded. The patient was put on a high-protein and low-fat diet with medium-chain triglyceride supplementation with improvement.

Diagnostic Dilemma In Diagnosing Rare Cause Of Protein Losing Enteropathy:Waldmann’s Disease

“…Along with above clinical features , Stool analysis may show steatorrhea and increased α anti trypsin clearance (>24 ml/day) . (2,8,11) PIL diagnosis is confirmed by the presence of intestinal lymphangiectasia based on endoscopic findings with the corresponding histology of intestinal biopsy specimens. (12) .…”

“…(6,7) Although most cases are sporadic, Le Bougeant et al reported rare familial forms of Waldmann's disease. (8,9) Primary and secondary, are the two types of intestinal lymphangiectasia described in literature according to cause of the disease. In primary lymphangiectasia, there is no predisposing condition to increased lymph pressure and is probably caused by congenital anatomical malformation of the lymphatic system.…”

“…Clinical manifestations may be presented as asymptomatic or fatigue, lower abdominal pain, edema, chylothorax, chronic diarrhea, ascites. (1)(2)(3)(4)(5)(6)8) Iron deficiency anemia and hypocalcemic tetany can be observed. (2,8) Supporting the fact, our case also had micronutrient deficiency of Iron and calcium /Vitamin D3.…”

“…(1)(2)(3)(4)(5)(6)8) Iron deficiency anemia and hypocalcemic tetany can be observed. (2,8) Supporting the fact, our case also had micronutrient deficiency of Iron and calcium /Vitamin D3. Along with above clinical features , Stool analysis may show steatorrhea and increased α anti trypsin clearance (>24 ml/day) .…”

“…(2) Exclusion of secondary causes of intestinal lymphangiectasia like erosive and non-erosive intestinal disorders, conditions involving mesenteric lymphatic obstruction and cardiovascular disorders that increase central venous pressure, is necessary for definitive diagnosis of Waldmann's disease. (8) A wide range of presenting symptoms provide a challenge to appropriate therapy. The treatment protocol depends on presenting symptoms localization of disease and associated complications.…”