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primary intestinal lymphangiectasia ( pil ) is a well recognized disease characterized by markedly dilated intestinal lymphatics , hypoproteinemia , generalized edema and lymphocytopenia .
the excessive loss of protein into the gastrointestinal tract is a major factor for the development of hypoproteinemia in these patients and its demonstration is important in the diagnosis of intestinal lymphangiectasia .
various methods , including 1-antitrypsin intestinal clearance test and tests using radiolabeled macromolecules , have been used to detect gastrointestinal protein losses .
recently , tc - human serum albumin ( hsa ) abdominal scintigraphy , which is a simple , safe and readily available method to detect protein loss into bowel lumen , was introduced and proved to be useful to screen protein losing enteropathies .
we experienced a case of primary intestinal lymphangiectasia in a patient whose enteric protein loss was detected by tc - hsa abdominal scintigraphy , and that was confirmed by endoscopic intestinal biopsy showing markedly dilated intestinal lymphatics .
a 27-year - old male was admitted to yeungnam university hospital in december of 1991 because of diarrhea and aggravated edema of the lower extremities over 8 months .
8 years prior to admission , he suffered from an edema of the lower extremities and abdominal distension , but the symptoms subsided spontaneously without any special treatment and no further investigations were done . from 4 years before admission , he had intermittently experienced an edema of the lower extremities which was always associated with diarrhea .
he was diagnosed as having hypoalbuminemia by a local physician and was referred to this hospital for gastrointestinal evaluations .
he was a non - smoker , non - alcoholic and had no significant past medical history .
there was no history of fever , vomiting , abdominal pain , weight loss or urinary problems . on admission , he was afebrile and relatively healthy , and vital signs were stable .
peripheral blood hemoglobin was 15.5gm / dl , white blood cell count 5.410/l with 74% neutrophiles and 15% lymphocytes , platelet count 29710/l and
serum sodium , potassium , chloride , magnesium , urea , nitrogen , creatinine , ast , alt , alkaline phosphatase , transferrin and plasma fibrinogen were all normal .
total serum protein 3.9gm / dl , albumin 1.8gm / dl , 1-globulin 0.3 gm / dl , 2-globulin 0.53 gm / dl , -globulin 0.64 gm / dl and -globulin was 0.62 gm / dl .
serum immunoglobulin ( ig ) g was 412.0 mg / dl , iga 89.9 mg / dl , igm 113.0 mg / dl , igd 2.4 mg / dl and ige was 126.0 iu / ml .
small intestinal endoscopic and colonoscopic study showed the presence of whitish granular spots scattered throughout the mucosa of the jejunum and terminal ileum(fig .
2 ) , but the esophagus , stomach , duodenum and colon showed normal findings .
biopsy specimens taken from jejunum and terminal ileum revealed markedly dilated submucosal lymphatics with no evidence of inflammation ( fig .
3 ) . for the demonstration of protein loss from intestinal mucosa , technetium - hsa scintigraphy was performed : 20 mci of tc - hsa was injected intravenously and then abdominal radioactivity was counted serially .
the activity was apparent in the right lower quadrant and transverse colon at 6 hours , and in the descending and sigmoid colon at 24 hours after injection , indicating a significant loss of serum protein into bowel lumen in this patient ( fig .
4 ) . under the diagnosis of pil , the patient received a high - protein and fat - restricted diet .
immediately after starting these dietary treatments , his edema and diarrhea subsided , and 4 weeks later the serum albumin level was normalized .
since waldmann et al s first description in 1961 , intestinal lymphangiectasia has been recognized as a distinct disease entity characterized by hypoproteinemic edema , diarrhea , steatorrhea , lymphocytopenia and enteric loss of protein resulting from the markedly dilated lymphatic channels of the small intestine .
it may appear as a primary form caused by congenital malformation of generalized lymphatic systems or secondary form due to various conditions including inflammatory disease , cardiac disease , whipple s disease , sarcoidosis , tuberculosis , retroperitoneal fibrosis , lymphoma etc .
pil is a disease primarily affecting children and young adults , usually occurring from birth to 30 years of age in over 90% of the cases , and both sexes are affected equally . from the review of previously reported cases ,
the initial manifestation of intestinal lymphangiectasia is usually hypoproteinemic edema and diarrhea . in some patients , vague abdominal discomfort or steatorrhea
can be noted and , in cases of severe enteric protein loss , intestinal obstruction , chylous ascites , hypocalcemic tetany or growth retardation may develop .
secondary intestinal lymphangiectasia is usually adult - onset and may have certain distinguishing features from pil : elevated esr , normal or increased immunoglobulin levels , positive ana or le test and other evidence of inflammatory processes . in our cases , considering several features such as the early onset of symptoms , namely negative ana and le test , near normal level of esr , decreased igg level and absence of other evidence of inflammation , pil was more compatible than secondary types .
the small bowel series are abnormal in over 2/3 of the cases and common findings are thickening and enlargement of the valvulae coniventes of the jejunum and ileum and distal dilution of barium , indicating hypersecretion and slight dilatation of the lumen .
pedal lymphangiograms are abnormal in almost all cases and the usual features are hypoplasia of the lymphatic systems of the lower extremities , nonvisualization of the thoracic duct and agenesis of the retroperitoneal lymph nodes .
demonstration of gastrointestinal protein loss as a cause of hypoproteinemia , which can differentiate from other causes of hypoproteinemia , is essential to make the diagnosis of the intestinal lymphangiectasia .
methods evaluating enteric protein loss include quantitation of protein loss by determining fecal clearance of 1-antitrypsin or measurement of the magnitude of protein loss by counting fecal excretion of radioactivity following intravenous administration of the radiolabeled macromolecules such as i - serum protein , cr - serum proteins , fe - iron dextran , nb - albumin , cu - ceruloplasmin , or i - pvp .
recently tc - human serum albumin ( hsa ) abdominal scintigraphy was introduced for this purpose and compared with other methods , tc - hsa scintigraphy had a lower radiation burden on the patient and was more readily available , relatively inexpensive and easily performed . in our cases , we performed tc - hsa abdominal scintigraphy to evaluate the cause of hypoproteinemia and successfully demonstrated that significant enteric protein loss was present .
endoscopic findings of pil are numerous whitish spots over the mucosa , white villi and chyle - like material covering the mucosa in the jejunum and terminal ileum , which become more prominent after ingestion of a high - fat meal the night before the procedure .
the biopsy from these sites represents markedly dilated lymph vessels of the mucosa and submucosa , the hallmark lesion of the disease .
diagnosis of pil can be confirmed by these characteristic endoscopic and histological findings . in our cases ,
endoscopic study of jejunum and terminal ileum showed multiple whitish granular spots on the mucosa and a biopsy of these lesions revealed characteristic histological findings .
segmental resection may be recommended in cases involving localized segment of the intestine and , in some cases , marked improvement with antiplasmin therapy was reported .
but , in over half of the cases , treatment with a high - protein , fat - free diet , and supplemetation of medium - chain triglyceride that is absorbed directly into the portal system without developement of lacteal engorgement , is usually effective in preventing and alleviating the symptoms . in our cases ,
diarrhea and edema all subsided immediately after dietary treatment alone , and the serum albumin level was also normalized . in conclusion , we are presenting a case of pil in which the diagnosis was confirmed by tc - hsa scintigraphy and characteristic intestinal endoscopic and histological findings .
because of the relatively good response to the diet therapy , the early diagnosis of pil is very important for the management of these patients .
considering the major role of gastrointestinal protein loss in the pathogenesis of the intestinal lymphangiectasia , it is important to detect the presence of enteric protein loss using various non - invasive methods such as tc - hsa scintigraphy in any suspected cases .
a 26-year - old male patient who had an 8 years history of recurrent peripheral edema with diarrhea and hypoproteinemia was evaluated . 
 endoscopic jejunal and ileal biopsy revealed markedly dilated mucosal lymph vessels with no evidence of inflammation . 
 99mtc - labeled human serum albumin ( hsa ) scintigraphy showed significant activity accumulating in the gastrointestinal tract to represent 99mtc - hsa leakage into the bowel lumen . 
 a diagnosis of protein losing enteropathy and intestinal lymphangiectasia could be made . 
 after treatment with a high protein and fat restricted diet , his symptoms subsided and the serum protein level was normalized .