Sandbox:Riad: Difference between revisions
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==Differential diagnosis== | ==Differential diagnosis== | ||
PIL must be differentiated from the secondary causes that lead to intestinal lymphangiectasia such as | PIL must be differentiated from the secondary causes that lead to intestinal lymphangiectasia such as: | ||
*Intestinal tuberculosis<ref name="pmid3249186">{{cite journal| author=Ploddi A, Atisook K, Hargrove NS| title=Intestinal lymphangiectasia in intraabdominal tuberculosis. | journal=J Med Assoc Thai | year= 1988 | volume= 71 | issue= 9 | pages= 518-23 | pmid=3249186 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3249186 }}</ref> | |||
*Inflammatory bowel disease,<ref name="pmid13834226">{{cite journal| author=STEINFELD JL, DAVIDSON JD, GORDON RS, GREENE FE| title=The mechanism of hypoproteinemia in patients with regional enteritis and ulcerative colitis. | journal=Am J Med | year= 1960 | volume= 29 | issue= | pages= 405-15 | pmid=13834226 | doi=10.1016/0002-9343(60)90036-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13834226 }}</ref> *Intestinal lymphoma,<ref name="pmid14103417">{{cite journal| author=SUM PT, HOFFMAN MM, WEBSTER DR| title=PROTEIN-LOSING GASTROENTEROPATHY IN PATIENTS WITH GASTROINTESTINAL CANCER. | journal=Can J Surg | year= 1964 | volume= 7 | issue= | pages= 1-5 | pmid=14103417 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14103417 }}</ref> | |||
*Constrictive pericarditis<ref name="pmid5847556">{{cite journal| author=Wilkinson P, Pinto B, Senior JR| title=Reversible protein-losing enteropathy with intestinal lymphangiectasia secondary to chronic constrictive pericarditis. | journal=N Engl J Med | year= 1965 | volume= 273 | issue= 22 | pages= 1178-81 | pmid=5847556 | doi=10.1056/NEJM196511252732202 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5847556 }}</ref> | |||
*Sarcoidosis<ref name="pmid7350018">{{cite journal| author=Popović OS, Brkić S, Bojić P, Kenić V, Jojić N, Djurić V | display-authors=etal| title=Sarcoidosis and protein losing enteropathy. | journal=Gastroenterology | year= 1980 | volume= 78 | issue= 1 | pages= 119-25 | pmid=7350018 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7350018 }}</ref> | |||
*Systemic sclerosis<ref name="pmid3195550">{{cite journal| author=van Tilburg AJ, van Blankenstein M, Verschoor L| title=Intestinal lymphangiectasia in systemic sclerosis. | journal=Am J Gastroenterol | year= 1988 | volume= 83 | issue= 12 | pages= 1418-9 | pmid=3195550 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3195550 }}</ref> | |||
*Whipple disease<ref name="pmid4160668">{{cite journal| author=Laster L, Waldmann TA, Fenster LF, Singleton JW| title=Albumin metabolism in patients with Whipple's disease. | journal=J Clin Invest | year= 1966 | volume= 45 | issue= 5 | pages= 637-44 | pmid=4160668 | doi=10.1172/JCI105379 | pmc=292741 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4160668 }}</ref> | |||
*Radiation and/or chemotherapy with retroperitoneal fibrosis<ref name="pmid3608736">{{cite journal| author=Rao SS, Dundas S, Holdsworth CD| title=Intestinal lymphangiectasia secondary to radiotherapy and chemotherapy. | journal=Dig Dis Sci | year= 1987 | volume= 32 | issue= 8 | pages= 939-42 | pmid=3608736 | doi=10.1007/BF01296718 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3608736 }}</ref> | |||
*HIV-related enteropathy<ref name="pmid9456254">{{cite journal| author=Stockmann M, Fromm M, Schmitz H, Schmidt W, Riecken EO, Schulzke JD| title=Duodenal biopsies of HIV-infected patients with diarrhoea exhibit epithelial barrier defects but no active secretion. | journal=AIDS | year= 1998 | volume= 12 | issue= 1 | pages= 43-51 | pmid=9456254 | doi=10.1097/00002030-199801000-00006 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9456254 }}</ref> | |||
*Celiac disease | |||
==Signs and symptoms== | ==Signs and symptoms== | ||
Revision as of 16:43, 19 January 2021
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[1]
- Inflammatory bowel disease,[2] *Intestinal lymphoma,[3]
- Constrictive pericarditis[4]
- Sarcoidosis[5]
- Systemic sclerosis[6]
- Whipple disease[7]
- Radiation and/or chemotherapy with retroperitoneal fibrosis[8]
- HIV-related enteropathy[9]
- 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[10]
- Surgery (segmental small bowel resection) for localized lesions[11]
Some controversial therapeutic options include: steroids[12] and octreotide[13]
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.
References
- ↑ Ploddi A, Atisook K, Hargrove NS (1988). "Intestinal lymphangiectasia in intraabdominal tuberculosis". J Med Assoc Thai. 71 (9): 518–23. PMID 3249186.
- ↑ STEINFELD JL, DAVIDSON JD, GORDON RS, GREENE FE (1960). "The mechanism of hypoproteinemia in patients with regional enteritis and ulcerative colitis". Am J Med. 29: 405–15. doi:10.1016/0002-9343(60)90036-x. PMID 13834226.
- ↑ SUM PT, HOFFMAN MM, WEBSTER DR (1964). "PROTEIN-LOSING GASTROENTEROPATHY IN PATIENTS WITH GASTROINTESTINAL CANCER". Can J Surg. 7: 1–5. PMID 14103417.
- ↑ Wilkinson P, Pinto B, Senior JR (1965). "Reversible protein-losing enteropathy with intestinal lymphangiectasia secondary to chronic constrictive pericarditis". N Engl J Med. 273 (22): 1178–81. doi:10.1056/NEJM196511252732202. PMID 5847556.
- ↑ Popović OS, Brkić S, Bojić P, Kenić V, Jojić N, Djurić V; et al. (1980). "Sarcoidosis and protein losing enteropathy". Gastroenterology. 78 (1): 119–25. PMID 7350018.
- ↑ van Tilburg AJ, van Blankenstein M, Verschoor L (1988). "Intestinal lymphangiectasia in systemic sclerosis". Am J Gastroenterol. 83 (12): 1418–9. PMID 3195550.
- ↑ Laster L, Waldmann TA, Fenster LF, Singleton JW (1966). "Albumin metabolism in patients with Whipple's disease". J Clin Invest. 45 (5): 637–44. doi:10.1172/JCI105379. PMC 292741. PMID 4160668.
- ↑ Rao SS, Dundas S, Holdsworth CD (1987). "Intestinal lymphangiectasia secondary to radiotherapy and chemotherapy". Dig Dis Sci. 32 (8): 939–42. doi:10.1007/BF01296718. PMID 3608736.
- ↑ Stockmann M, Fromm M, Schmitz H, Schmidt W, Riecken EO, Schulzke JD (1998). "Duodenal biopsies of HIV-infected patients with diarrhoea exhibit epithelial barrier defects but no active secretion". AIDS. 12 (1): 43–51. doi:10.1097/00002030-199801000-00006. PMID 9456254.
- ↑ MacLean JE, Cohen E, Weinstein M (2002). "Primary intestinal and thoracic lymphangiectasia: a response to antiplasmin therapy". Pediatrics. 109 (6): 1177–80. doi:10.1542/peds.109.6.1177. PMID 12042562.
- ↑ Chen CP, Chao Y, Li CP, Lo WC, Wu CW, Tsay SH; et al. (2003). "Surgical resection of duodenal lymphangiectasia: a case report". World J Gastroenterol. 9 (12): 2880–2. doi:10.3748/wjg.v9.i12.2880. PMC 4612079. PMID 14669360.
- ↑ Edworthy SM, Fritzler MJ, Kelly JK, McHattie JD, Shaffer EA (1990). "Protein-losing enteropathy in systemic lupus erythematosus associated with intestinal lymphangiectasia". Am J Gastroenterol. 85 (10): 1398–402. PMID 2220736.
- ↑ Klingenberg RD, Homann N, Ludwig D (2003). "Type I intestinal lymphangiectasia treated successfully with slow-release octreotide". Dig Dis Sci. 48 (8): 1506–9. doi:10.1023/a:1024707605493. PMID 12924644.