Sandbox:Riad: Difference between revisions
Mohamed riad (talk | contribs) No edit summary |
Mohamed riad (talk | contribs) No edit summary |
||
| Line 1: | Line 1: | ||
'''Historical perspective:''' | '''<u>Historical perspective:</u>''' | ||
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"<ref name="pmid13782654">{{cite journal| author=WALDMANN TA, STEINFELD JL, DUTCHER TF, DAVIDSON JD, GORDON RS| title=The role of the gastrointestinal system in "idiopathic hypoproteinemia". | journal=Gastroenterology | year= 1961 | volume= 41 | issue= | pages= 197-207 | pmid=13782654 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13782654 }}</ref>. 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<ref name="pmid18294365">{{cite journal| author=Vignes S, Bellanger J| title=Primary intestinal lymphangiectasia (Waldmann's disease). | journal=Orphanet J Rare Dis | year= 2008 | volume= 3 | issue= | pages= 5 | pmid=18294365 | doi=10.1186/1750-1172-3-5 | pmc=2288596 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18294365 }}</ref>. | ||
'''Pathophysiology:''' | '''<u>Pathophysiology:</u>''' | ||
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. | '''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 and LYVE-1 that are abnormally expressed in patients with PIL<ref name="pmid180050112">{{cite journal| author=Hokari R, Kitagawa N, Watanabe C, Komoto S, Kurihara C, Okada Y | display-authors=etal| title=Changes in regulatory molecules for lymphangiogenesis in intestinal lymphangiectasia with enteric protein loss. | journal=J Gastroenterol Hepatol | year= 2008 | volume= 23 | issue= 7 Pt 2 | pages= e88-95 | pmid=18005011 | doi=10.1111/j.1440-1746.2007.05225.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18005011 }}</ref>. | |||
'''Associated conditions:''' There are five syndromes that have been reported to be associated with PIL<ref name="pmid2624276">{{cite journal| author=Hennekam RC, Geerdink RA, Hamel BC, Hennekam FA, Kraus P, Rammeloo JA | display-authors=etal| title=Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. | journal=Am J Med Genet | year= 1989 | volume= 34 | issue= 4 | pages= 593-600 | pmid=2624276 | doi=10.1002/ajmg.1320340429 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2624276 }}</ref>. 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:''' | |||
Histopathologic examination of biopsies from duodenum, jejunum and ileum shows Dilated intestinal lymphatic vessels and lacteal juice. | |||
Revision as of 00:42, 17 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"[1]. 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[2].
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 and LYVE-1 that are abnormally expressed in patients with PIL[3].
Associated conditions: There are five syndromes that have been reported to be associated with PIL[4]. 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:
Histopathologic examination of biopsies from duodenum, jejunum and ileum shows Dilated intestinal lymphatic vessels and lacteal juice.
References
- ↑ WALDMANN TA, STEINFELD JL, DUTCHER TF, DAVIDSON JD, GORDON RS (1961). "The role of the gastrointestinal system in "idiopathic hypoproteinemia"". Gastroenterology. 41: 197–207. PMID 13782654.
- ↑ Vignes S, Bellanger J (2008). "Primary intestinal lymphangiectasia (Waldmann's disease)". Orphanet J Rare Dis. 3: 5. doi:10.1186/1750-1172-3-5. PMC 2288596. PMID 18294365.
- ↑ Hokari R, Kitagawa N, Watanabe C, Komoto S, Kurihara C, Okada Y; et al. (2008). "Changes in regulatory molecules for lymphangiogenesis in intestinal lymphangiectasia with enteric protein loss". J Gastroenterol Hepatol. 23 (7 Pt 2): e88–95. doi:10.1111/j.1440-1746.2007.05225.x. PMID 18005011.
- ↑ Hennekam RC, Geerdink RA, Hamel BC, Hennekam FA, Kraus P, Rammeloo JA; et al. (1989). "Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation". Am J Med Genet. 34 (4): 593–600. doi:10.1002/ajmg.1320340429. PMID 2624276.