Primary Intestinal Lymphangiectasia: Difference between revisions

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== Diagnosis ==
== Diagnosis ==
===Diagnostic Criteria===
===Diagnostic Criteria===
*The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met:
PIL is diagnosed by biopsy revealing dilated intestinal lymphatics.
:*[criterion 1]
:*[criterion 2]
:*[criterion 3]
:*[criterion 4]
=== History and Symptoms ===
=== History and Symptoms ===
*[Disease name] is usually asymptomatic.
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 ascites. Rarely, it can cause anasarca.
*Symptoms of [disease name] may include the following:
 
:*[symptom 1]
Other symptoms include:
:*[symptom 2]
*Diarrhea
:*[symptom 3]
*Steatorrhea
:*[symptom 4]
*Malabsorption syndrome<ref name="pmid15117239">{{cite journal| author=Lobo B, Casellas F, de Torres I, Chicharro L, Malagelada JR| title=Usefulness of jejunal biopsy in the study of intestinal malabsorption in the elderly. | journal=Rev Esp Enferm Dig | year= 2004 | volume= 96 | issue= 4 | pages= 259-64 | pmid=15117239 | doi=10.4321/s1130-01082004000400005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15117239  }}</ref>
:*[symptom 5]
*Fatigue
:*[symptom 6]
*Abdominal pain
*Abdominal mass<ref name="pmid17321261">{{cite journal| author=Rao R, Shashidhar H| title=Intestinal lymphangiectasia presenting as abdominal mass. | journal=Gastrointest Endosc | year= 2007 | volume= 65 | issue= 3 | pages= 522-3, discussion 523 | pmid=17321261 | doi=10.1016/j.gie.2006.10.026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17321261  }}</ref>
*Immunodeficiency
*Vitamin D deficiency Leading to osteomalacia and convulsion
*Iron deficiency anemia
*Mechanical ileus<ref name="pmid8374252">{{cite journal| author=Lenzhofer R, Lindner M, Moser A, Berger J, Schuschnigg C, Thurner J| title=Acute jejunal ileus in intestinal lymphangiectasia. | journal=Clin Investig | year= 1993 | volume= 71 | issue= 7 | pages= 568-71 | pmid=8374252 | doi=10.1007/BF00208483 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8374252  }}</ref> 
*Chylous reflux into skin<ref name="pmid2032374">{{cite journal| author=O'Driscoll JB, Chalmers RJ, Warnes TW| title=Chylous reflux into abdominal skin simulating lymphangioma circumscriptum in a patient with primary intestinal lymphangiectasia. | journal=Clin Exp Dermatol | year= 1991 | volume= 16 | issue= 2 | pages= 124-6 | pmid=2032374 | doi=10.1111/j.1365-2230.1991.tb00322.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2032374  }}</ref>
*Recurrent GI bleeding<ref name="pmid17476211">{{cite journal| author=Herfarth H, Hofstädter F, Feuerbach S, Jürgen Schlitt H, Schölmerich J, Rogler G| title=A case of recurrent gastrointestinal bleeding and protein-losing gastroenteropathy. | journal=Nat Clin Pract Gastroenterol Hepatol | year= 2007 | volume= 4 | issue= 5 | pages= 288-93 | pmid=17476211 | doi=10.1038/ncpgasthep0812 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17476211  }}</ref>
*Children have growth retardation
 
   
   
=== Physical Examination ===
=== Physical Examination ===
Line 128: Line 132:


=== Laboratory Findings ===
=== Laboratory Findings ===
*There are no specific laboratory findings associated with [disease name].
* Low albumin level
 
* Low immunoglobulin IgM, IgA and IgG levels
*A  [positive/negative] [test name] is diagnostic of [disease name].
* CBC shows lymphopenia
*An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
* Elevated 24-hour α1-antitrypsin clearance in stool, which is an indication of degree of protein loss and disease severity Contrast lymphangiography
*Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
===Electrocardiogram===
There are no ECG findings associated with [disease name].
 
OR
 
An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
===X-ray===
There are no x-ray findings associated with [disease name].


OR
===Ultrasound===
ultrasound may be helpful in the diagnosis of PIL. Findings on ultrasound suggestive of PIL include dilation of the intestinal loops, diffuse regular thickening of the intestinal wall, mesenteric edema, and sometimes ascites.<ref name="pmid3511270">{{cite journal| author=Dorne HL, Jequier S| title=Sonography of intestinal lymphangiectasia. | journal=J Ultrasound Med | year= 1986 | volume= 5 | issue= 1 | pages= 13-6 | pmid=3511270 | doi=10.7863/jum.1986.5.1.13 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3511270  }} </ref>


An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
===Echocardiography or Ultrasound===
There are no echocardiography/ultrasound  findings associated with [disease name].
OR
Echocardiography/ultrasound  may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no echocardiography/ultrasound  findings associated with [disease name]. However, an echocardiography/ultrasound  may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].


===CT scan===
===CT scan===
There are no CT scan findings associated with [disease name].
Abdominal CT scan with oral and intravenous contrast medium enhancement may be helpful in the diagnosis of PIL. Findings on CT scan suggestive of PIL include diffuse thickening of the small intestinal wall and edema. In some cases, it may show a "halo sign".<ref name="pmid4019833">{{cite journal| author=Fakhri A, Fishman EK, Jones B, Kuhajda F, Siegelman SS| title=Primary intestinal lymphangiectasia: clinical and CT findings. | journal=J Comput Assist Tomogr | year= 1985 | volume= 9 | issue= 4 | pages= 767-70 | pmid=4019833 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4019833  }} </ref>
 
OR
 
[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
 
===MRI===
There are no MRI findings associated with [disease name].
 
OR
 
[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
 
===Other Imaging Findings===
There are no other imaging findings associated with [disease name].
 
OR
 
[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
===Other Diagnostic Studies===
There are no other diagnostic studies associated with [disease name].
 
OR
 
[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR


Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].
===Other imaging=
Lymphangiography may be helpful in the diagnosis of PIL. Findings on lymphangiography suggestive of PIL include abnormal dilation of intestinal lymphatics.


== Treatment ==
== Treatment ==

Revision as of 02:59, 20 January 2021

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

Synonyms and keywords:

Overview

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 a microscope revealing different degrees of lymphatic vessel dilatation.[2]

Classification

  • [Disease name] may be classified according to [classification method] into [number] subtypes/groups:
  • [group1]
  • [group2]
  • [group3]
  • Other variants of [disease name] include [disease subtype 1], [disease subtype 2], and [disease subtype 3].

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 include 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.

Causes

Disease name] may be caused by [cause1], [cause2], or [cause3].

OR

Common causes of [disease] include [cause1], [cause2], and [cause3].

OR

The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].

OR

The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.

Differentiating [disease name] from other Diseases

PIL must be differentiated from the secondary causes that lead to intestinal lymphangiectasia such as:

  • Intestinal tuberculosis[3]
  • Inflammatory bowel disease,[4] *Intestinal lymphoma,[5]
  • Constrictive pericarditis[6]
  • Sarcoidosis[7]
  • Systemic sclerosis[8]
  • Whipple disease[9]
  • Radiation and/or chemotherapy with retroperitoneal fibrosis[10]
  • HIV-related enteropathy
  • Fatigue
  • Abdominal pain
  • Abdominal mass[11]
  • Immunodeficiency
  • Vitamin D deficiency Leading to osteomalacia and convulsion
  • Iron deficiency anemia
  • Mechanical ileus[12]
  • Chylous reflux into skin[13]
  • Recurrent GI bleeding[14]
  • Children have growth retardation


Physical Examination

  • Patients with [disease name] usually appear [general appearance].
  • Physical examination may be remarkable for:
  • [finding 1]
  • [finding 2]
  • [finding 3]
  • [finding 4]
  • [finding 5]
  • [finding 6]

Laboratory Findings

  • 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

Ultrasound

ultrasound may be helpful in the diagnosis of PIL. Findings on ultrasound suggestive of PIL include dilation of the intestinal loops, diffuse regular thickening of the intestinal wall, mesenteric edema, and sometimes ascites.[15]


CT scan

Abdominal CT scan with oral and intravenous contrast medium enhancement may be helpful in the diagnosis of PIL. Findings on CT scan suggestive of PIL include diffuse thickening of the small intestinal wall and edema. In some cases, it may show a "halo sign".[16]

==Other imaging

Lymphangiography may be helpful in the diagnosis of PIL. Findings on lymphangiography suggestive of PIL include abnormal dilation of intestinal lymphatics.

Treatment

Medical Therapy

  • There is no treatment for [disease name]; the mainstay of therapy is supportive care.
  • The mainstay of therapy for [disease name] is [medical therapy 1] and [medical therapy 2].
  • [Medical therapy 1] acts by [mechanism of action 1].
  • Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration].

Surgery

  • Surgery is the mainstay of therapy for [disease name].
  • [Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
  • [Surgical procedure] can only be performed for patients with [disease stage] [disease name].

Prevention

  • There are no primary preventive measures available for [disease name].
  • Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
  • Once diagnosed and successfully treated, patients with [disease name] are followed-up every [duration]. Follow-up testing includes [test 1], [test 2], and [test 3].

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ Ploddi A, Atisook K, Hargrove NS (1988). "Intestinal lymphangiectasia in intraabdominal tuberculosis". J Med Assoc Thai. 71 (9): 518–23. PMID 3249186.
  4. ↑ 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.
  5. ↑ SUM PT, HOFFMAN MM, WEBSTER DR (1964). "PROTEIN-LOSING GASTROENTEROPATHY IN PATIENTS WITH GASTROINTESTINAL CANCER". Can J Surg. 7: 1–5. PMID 14103417.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ van Tilburg AJ, van Blankenstein M, Verschoor L (1988). "Intestinal lymphangiectasia in systemic sclerosis". Am J Gastroenterol. 83 (12): 1418–9. PMID 3195550.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ Rao R, Shashidhar H (2007). "Intestinal lymphangiectasia presenting as abdominal mass". Gastrointest Endosc. 65 (3): 522–3, discussion 523. doi:10.1016/j.gie.2006.10.026. PMID 17321261.
  12. ↑ Lenzhofer R, Lindner M, Moser A, Berger J, Schuschnigg C, Thurner J (1993). "Acute jejunal ileus in intestinal lymphangiectasia". Clin Investig. 71 (7): 568–71. doi:10.1007/BF00208483. PMID 8374252.
  13. ↑ O'Driscoll JB, Chalmers RJ, Warnes TW (1991). "Chylous reflux into abdominal skin simulating lymphangioma circumscriptum in a patient with primary intestinal lymphangiectasia". Clin Exp Dermatol. 16 (2): 124–6. doi:10.1111/j.1365-2230.1991.tb00322.x. PMID 2032374.
  14. ↑ Herfarth H, Hofstädter F, Feuerbach S, Jürgen Schlitt H, Schölmerich J, Rogler G (2007). "A case of recurrent gastrointestinal bleeding and protein-losing gastroenteropathy". Nat Clin Pract Gastroenterol Hepatol. 4 (5): 288–93. doi:10.1038/ncpgasthep0812. PMID 17476211.
  15. ↑ Dorne HL, Jequier S (1986). "Sonography of intestinal lymphangiectasia". J Ultrasound Med. 5 (1): 13–6. doi:10.7863/jum.1986.5.1.13. PMID 3511270.
  16. ↑ Fakhri A, Fishman EK, Jones B, Kuhajda F, Siegelman SS (1985). "Primary intestinal lymphangiectasia: clinical and CT findings". J Comput Assist Tomogr. 9 (4): 767–70. PMID 4019833.

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