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==Historical perspective== | |||
Primary intestinal lymphangiectasia (Waldmann<nowiki>'s disease) was first discovered by Waldmann T.A. in 1961 when he reported 18 cases of patients having edema with low serum albumin and gammaglobulin and proteins levels ''</nowiki>idiopathic hypercatabolic hypoproteinemia". Assessment using radio-labeled <sup>131</sup>I-albumin resulted in low levels in those patients. In addition, small intestinal biopsies were examined under microscope revealing different degrees of lymphatic vessel dilatation. | Primary intestinal lymphangiectasia (Waldmann<nowiki>'s disease) was first discovered by Waldmann T.A. in 1961 when he reported 18 cases of patients having edema with low serum albumin and gammaglobulin and proteins levels ''</nowiki>idiopathic hypercatabolic hypoproteinemia". Assessment using radio-labeled <sup>131</sup>I-albumin resulted in low levels in those patients. In addition, small intestinal biopsies were examined under microscope revealing different degrees of lymphatic vessel dilatation. | ||
==Pathophysiology== | |||
===Pathology=== | |||
PIL develops as a result of dilatation of intestinal lymphatic vessels (lacteals) with leakage of their contents into the bowel lumen leading to hypoalbuminemia, hypogammaglobulinemia and lymphopenia. Hypoproteinemia leads to edema. It is a form of protein losing enteropathy. | |||
''' | ===Genetics=== | ||
Genes involved in the pathogenesis of PIL includes VEGFR3, LYVE-1, ''PROX1 and FOXC2'' that are abnormally expressed in patients with PIL. | |||
===Associated conditions=== | |||
There are five syndromes that have been reported to be associated with PIL. These syndromes include: | |||
Turner syndrome | Turner syndrome | ||
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Hennekam syndrome | Hennekam syndrome | ||
===Gross pathology=== | |||
The jejunal villi appear creamy yellowish or whitish due to the dilated lymphatics in the intestinal mucosa. | The jejunal villi appear creamy yellowish or whitish due to the dilated lymphatics in the intestinal mucosa. | ||
===Microscopic Pathology=== | |||
The most important histopathological characteristics of PIL are dilated intestinal lymphatic vessels and lacteal juice in the biopsies from duodenum, jejunum and ileum. | The most important histopathological characteristics of PIL are dilated intestinal lymphatic vessels and lacteal juice in the biopsies from duodenum, jejunum and ileum. | ||
==Differential diagnosis== | |||
PIL must be differentiated from the secondary causes that lead to intestinal lymphangiectasia such as intestinal tuberculosis, inflammatory bowel disease, intestinal lymphoma, constrictive pericarditis, sarcoidosis, systemic sclerosis, whipple disease, radiation and/or chemotherapy with retroperitoneal fibrosis , HIV-related enteropathyand celiac disease. | PIL must be differentiated from the secondary causes that lead to intestinal lymphangiectasia such as intestinal tuberculosis, inflammatory bowel disease, intestinal lymphoma, constrictive pericarditis, sarcoidosis, systemic sclerosis, whipple disease, radiation and/or chemotherapy with retroperitoneal fibrosis , HIV-related enteropathyand celiac disease. | ||
==Signs and symptoms== | |||
The hallmark of PIL is pitting edema which usually affects lower limbs in moderate cases and face and external genitalia in severe cases. In some cases, it can extend to serous membranes causing pericardial effusion, pleural effusion and chylous ascitis. Rarely, it can cause anasarca. | The hallmark of PIL is pitting edema which usually affects lower limbs in moderate cases and face and external genitalia in severe cases. In some cases, it can extend to serous membranes causing pericardial effusion, pleural effusion and chylous ascitis. Rarely, it can cause anasarca. | ||
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- Children have growth retardation | - Children have growth retardation | ||
==Diagnosis== | |||
PIL is diagnosed by biopsy revealing dilated intestinal lymphatics. | PIL is diagnosed by biopsy revealing dilated intestinal lymphatics. | ||
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- Elevated 24-hour α1-antitrypsin clearance in stool, which is an indication of degree of protein loss and disease severity Contrast lymphangiography | - Elevated 24-hour α1-antitrypsin clearance in stool, which is an indication of degree of protein loss and disease severity Contrast lymphangiography | ||
==Treatment== | |||
There is no definitive treatment for PIL; the mainstay of therapy is a low fat high protein diet with medium-chain triglyceride oral supplementation and supplemental calcium and vitamins. | There is no definitive treatment for PIL; the mainstay of therapy is a low fat high protein diet with medium-chain triglyceride oral supplementation and supplemental calcium and vitamins. | ||
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Some controversial therapeutic options include: steroids and octreotide | Some controversial therapeutic options include: steroids and octreotide | ||
==Complications== | |||
Complications that can develop in PIL as a result of immunodeficiency are: | Complications that can develop in PIL as a result of immunodeficiency are: | ||
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- Infections | - Infections | ||
==Prognosis== | |||
PIL is is associated with significant morbidity and requires adherence to the dietary modification and oral supplements; otherwise. it would be associated with poor outcome and low quality of life. It can be fatal in some cases if anasarca or malignancy develop. | PIL is is associated with significant morbidity and requires adherence to the dietary modification and oral supplements; otherwise. it would be associated with poor outcome and low quality of life. It can be fatal in some cases if anasarca or malignancy develop. | ||
==References== | ==References== | ||
{{reflist|2}} | |||
Revision as of 16:35, 19 January 2021
_NOTOC_
Historical perspective
Primary intestinal lymphangiectasia (Waldmann's disease) was first discovered by Waldmann T.A. in 1961 when he reported 18 cases of patients having edema with low serum albumin and gammaglobulin and proteins levels ''idiopathic hypercatabolic hypoproteinemia". Assessment using radio-labeled 131I-albumin resulted in low levels in those patients. In addition, small intestinal biopsies were examined under microscope revealing different degrees of lymphatic vessel dilatation.
Pathophysiology
Pathology
PIL develops as a result of dilatation of intestinal lymphatic vessels (lacteals) with leakage of their contents into the bowel lumen leading to hypoalbuminemia, hypogammaglobulinemia and lymphopenia. Hypoproteinemia leads to edema. It is a form of protein losing enteropathy.
Genetics
Genes involved in the pathogenesis of PIL includes VEGFR3, LYVE-1, PROX1 and FOXC2 that are abnormally expressed in patients with PIL.
Associated conditions
There are five syndromes that have been reported to be associated with PIL. These syndromes include:
Turner syndrome
Noonan syndrome
von Recklinghausen disease
Klippel-Trenaunay syndrome
Hennekam syndrome
Gross pathology
The jejunal villi appear creamy yellowish or whitish due to the dilated lymphatics in the intestinal mucosa.
Microscopic Pathology
The most important histopathological characteristics of PIL are dilated intestinal lymphatic vessels and lacteal juice in the biopsies from duodenum, jejunum and ileum.
Differential diagnosis
PIL must be differentiated from the secondary causes that lead to intestinal lymphangiectasia such as intestinal tuberculosis, inflammatory bowel disease, intestinal lymphoma, constrictive pericarditis, sarcoidosis, systemic sclerosis, whipple disease, radiation and/or chemotherapy with retroperitoneal fibrosis , HIV-related enteropathyand celiac disease.
Signs and symptoms
The hallmark of PIL is pitting edema which usually affects lower limbs in moderate cases and face and external genitalia in severe cases. In some cases, it can extend to serous membranes causing pericardial effusion, pleural effusion and chylous ascitis. Rarely, it can cause anasarca.
Other symptoms include: - Diarrhea, steatorrhea and malabsorption syndrome
- Fatigue
- Abdominal pain
- Abdominal mass
- Immunodeficiency
- Vitamin D deficiency Leading to osteomalacia and convulsion
- Iron deficiency anemia
- Mechanical ileus
- Chylous reflux into skin
- Recurrent GI bleeding
- Children have growth retardation
Diagnosis
PIL is diagnosed by biopsy revealing dilated intestinal lymphatics.
Other laboratory findings in PIL include:
- Low albumin level
- Low immunoglobulin IgM, IgA and IgG levels
- CBC shows lymphopenia
- Elevated 24-hour α1-antitrypsin clearance in stool, which is an indication of degree of protein loss and disease severity Contrast lymphangiography
Treatment
There is no definitive treatment for PIL; the mainstay of therapy is a low fat high protein diet with medium-chain triglyceride oral supplementation and supplemental calcium and vitamins.
Other reported therapeutic options include:
- Tranexamic acid is used to increase immunoglobulins and lymphocyte count
- Surgery (segmental small bowel resection) for localized lesions
Some controversial therapeutic options include: steroids and octreotide
Complications
Complications that can develop in PIL as a result of immunodeficiency are:
- Malignant transformation (lymphoma)
- Skin warts
- Infections
Prognosis
PIL is is associated with significant morbidity and requires adherence to the dietary modification and oral supplements; otherwise. it would be associated with poor outcome and low quality of life. It can be fatal in some cases if anasarca or malignancy develop.