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Primary intestinal lymphangiectasia

MedGen UID:: 444009
•Concept ID:: C2931241
•: Disease or Syndrome

Synonyms:	Familial Waldmann's disease (type); Primary intestinal lymphangiectasis; Waldmann disease; Waldmann's disease
SNOMED CT:	Primary intestinal lymphangiectasia (6124009); Intestinal lymphatic obstruction (6124009); Primary lymphangiectasis of intestine (6124009)

Monarch Initiative:	MONDO:0007916
OMIM®:	152800
Orphanet:	ORPHA90362

Definition

A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children. [from ORDO]

Clinical features

From HPO

Pedal edema

MedGen UID:: 116085
•Concept ID:: C0239340
•: Pathologic Function

An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.

See: Feature record | Search on this feature

Malabsorption

MedGen UID:: 811453
•Concept ID:: C3714745
•: Finding

Impaired ability to absorb one or more nutrients from the intestine.

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Prominent floating ribs

MedGen UID:: 870564
•Concept ID:: C4025012
•: Finding

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Intestinal lymphangiectasia

MedGen UID:: 9828
•Concept ID:: C0024215
•: Disease or Syndrome

Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.

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Lymphopenia

MedGen UID:: 7418
•Concept ID:: C0024312
•: Disease or Syndrome

A reduced number of lymphocytes in the blood.

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Decreased circulating IgG concentration

MedGen UID:: 1720114
•Concept ID:: C5234937
•: Finding

An abnormally decreased level of immunoglobulin G (IgG) in blood.

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Edema

MedGen UID:: 4451
•Concept ID:: C0013604
•: Pathologic Function

An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.

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Neonatal hypoproteinemia

MedGen UID:: 870253
•Concept ID:: C4024691
•: Disease or Syndrome

A neonatal decreased concentration of proteins in the blood.

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Abnormal hair morphology

MedGen UID:: 56381
•Concept ID:: C0157733
•: Finding

An abnormality of the hair.

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Abnormality of limbs
- Pedal edema
Abnormality of metabolism/homeostasis
- Edema
- Neonatal hypoproteinemia
Abnormality of the digestive system
- Malabsorption
Abnormality of the immune system
Abnormality of the integument
- Abnormal hair morphology
Abnormality of the musculoskeletal system
- Prominent floating ribs

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIntestinal lymphangiectasia
- CROGVPrimary intestinal lymphangiectasia
- CROGVSecondary intestinal lymphangiectasia

Phenotypic abnormality
- Abnormality of the immune system
  - Abnormality of the lymphatic system
    - Abnormal lymphatic vessel morphology
      - Lymphangiectasis
        Intestinal lymphangiectasia
        Primary intestinal lymphangiectasia

Professional guidelines

PubMed

Milky Way: Management of Primary Intestinal Lymphangiectasia.

Norman JS, Testa S, Wang CX, Savage T
Dig Dis Sci 2023 Oct;68(10):3872-3877. Epub 2023 Aug 27 doi: 10.1007/s10620-023-08077-y. PMID: 37634185

Endoscopic classification and pathological features of primary intestinal lymphangiectasia.

Meng MM, Liu KL, Xue XY, Hao K, Dong J, Yu CK, Liu H, Wang CH, Su H, Lin W, Jiang GJ, Wei N, Wang RG, Shen WB, Wu J
World J Gastroenterol 2022 Jun 14;28(22):2482-2493. doi: 10.3748/wjg.v28.i22.2482. PMID: 35979262 Free PMC Article

Comparative pathophysiology and management of protein-losing enteropathy.

Craven MD, Washabau RJ
J Vet Intern Med 2019 Mar;33(2):383-402. Epub 2019 Feb 14 doi: 10.1111/jvim.15406. PMID: 30762910 Free PMC Article

See all (11)

Recent clinical studies

Etiology

Cryptococcal meningitis and cerebral vasculitis in a patient with primary intestinal lymphangiectasia: a case report.

Mathurin M, Devatine S, Kopp-Derouet A, Guillonnet A, Alanio A, Lourenco N, Manda V, Delcey V, Molina JM, Sellier P
Eur J Clin Microbiol Infect Dis 2023 Oct;42(10):1263-1267. Epub 2023 Sep 5 doi: 10.1007/s10096-023-04657-y. PMID: 37668805

Endoscopic classification and pathological features of primary intestinal lymphangiectasia.

Cutaneous lymphangiectasia in a patient with primary intestinal lymphangiectasia.

Leong SWM, Chandran NS
Int J Dermatol 2017 Sep;56(9):963-964. Epub 2017 Aug 1 doi: 10.1111/ijd.13719. PMID: 28762470

Recurrent and opportunistic infections in children with primary intestinal lymphangiectasia.

Dierselhuis MP, Boelens JJ, Versteegh FG, Weemaes C, Wulffraat NM
J Pediatr Gastroenterol Nutr 2007 Mar;44(3):382-5. doi: 10.1097/01.mpg.0000233192.77521.2f. PMID: 17325562

Remission of protein-losing enteropathy after nodal lymphoma treatment in a patient with primary intestinal lymphangiectasia.

Laharie D, Degenne V, Laharie H, Cazorla S, Belleannee G, Couzigou P, Amouretti M
Eur J Gastroenterol Hepatol 2005 Dec;17(12):1417-9. doi: 10.1097/00042737-200512000-00024. PMID: 16292099

See all (20)

Diagnosis

Primary intestinal lymphangiectasia: A case report.

Antoine L, Chotard M, Koch S, Aubin F, Puzenat E
J Pediatr Gastroenterol Nutr 2024 May;78(5):1197-1198. Epub 2023 Dec 27 doi: 10.1002/jpn3.12093. PMID: 38695601

Milky Way: Management of Primary Intestinal Lymphangiectasia.

Norman JS, Testa S, Wang CX, Savage T
Dig Dis Sci 2023 Oct;68(10):3872-3877. Epub 2023 Aug 27 doi: 10.1007/s10620-023-08077-y. PMID: 37634185

Protein-losing enteropathy and primary intestinal lymphangiectasia.

Tseng YJ, Ding WQ, Luo ZG
QJM 2020 Mar 1;113(3):224-225. doi: 10.1093/qjmed/hcz177. PMID: 31309229

Primary Intestinal Lymphangiectasia (Waldmann's Disease).

Borzutzky A, Espino A, Alberti G, Torres J, Harris PR
Am J Gastroenterol 2019 Feb;114(2):197. doi: 10.1038/s41395-018-0413-0. PMID: 30410036

Clinical practice. Protein-losing enteropathy in children.

Braamskamp MJ, Dolman KM, Tabbers MM
Eur J Pediatr 2010 Oct;169(10):1179-85. Epub 2010 Jun 23 doi: 10.1007/s00431-010-1235-2. PMID: 20571826 Free PMC Article

See all (81)

Therapy

An evaluation of pozelimab for the treatment of CHAPLE disease.

Can S, Yorgun Altunbas M, Ozen A
Expert Opin Biol Ther 2025 Jan;25(1):1-7. Epub 2024 Dec 12 doi: 10.1080/14712598.2024.2438740. PMID: 39657032

Mulibrey nanism and immunological complications: a comprehensive case report and literature review.

Gazzin A, Pala F, Bosticardo M, Niemela J, Stoddard J, Biasin E, Quarello P, Carli D, Ferroni F, Delmonte OM, Montin D, Rosenzweig SD, Licciardi F, Notarangelo LD
Front Immunol 2023;14:1303251. Epub 2023 Dec 5 doi: 10.3389/fimmu.2023.1303251. PMID: 38116000 Free PMC Article

Endoscopic classification and pathological features of primary intestinal lymphangiectasia.

Gastroenterology: Primary intestinal lymphangiectasia of the terminal ileum.

Chiou FK, Lian DW
J Gastroenterol Hepatol 2015 Sep;30(9):1335. doi: 10.1111/jgh.12962. PMID: 26211692

Primary intestinal lymphangiectasia diagnosed by endoscopy following the intake of a high-fat meal.

Lee J, Kong MS
Eur J Pediatr 2008 Feb;167(2):237-9. Epub 2007 Apr 24 doi: 10.1007/s00431-007-0445-8. PMID: 17453239

See all (26)

Prognosis

Mulibrey nanism and immunological complications: a comprehensive case report and literature review.

Cutaneous lymphangiectasia in a patient with primary intestinal lymphangiectasia.

Leong SWM, Chandran NS
Int J Dermatol 2017 Sep;56(9):963-964. Epub 2017 Aug 1 doi: 10.1111/ijd.13719. PMID: 28762470

Forty years of shortness of breath and lower extremity edema. Diagnosis: Primary intestinal lymphangiectasia (Waldmann's disease).

Choi EH, Reidel W, Coyle W
Gastroenterology 2011 Jul;141(1):e6-7. doi: 10.1053/j.gastro.2010.04.059. PMID: 21641905

Clinical practice. Protein-losing enteropathy in children.

Braamskamp MJ, Dolman KM, Tabbers MM
Eur J Pediatr 2010 Oct;169(10):1179-85. Epub 2010 Jun 23 doi: 10.1007/s00431-010-1235-2. PMID: 20571826 Free PMC Article

Remission of protein-losing enteropathy after nodal lymphoma treatment in a patient with primary intestinal lymphangiectasia.

Laharie D, Degenne V, Laharie H, Cazorla S, Belleannee G, Couzigou P, Amouretti M
Eur J Gastroenterol Hepatol 2005 Dec;17(12):1417-9. doi: 10.1097/00042737-200512000-00024. PMID: 16292099

See all (13)

Clinical prediction guides

Mulibrey nanism and immunological complications: a comprehensive case report and literature review.

Correlation between capsule endoscopy classification and CT lymphangiography of primary intestinal lymphangiectasia.

Zhao Q, Sun X, Liu K, Peng Y, Jin D, Shen W, Wang R
Clin Radiol 2023 Mar;78(3):219-226. Epub 2022 Dec 9 doi: 10.1016/j.crad.2022.10.001. PMID: 36509551

Endoscopic classification and pathological features of primary intestinal lymphangiectasia.

Forty years of shortness of breath and lower extremity edema. Diagnosis: Primary intestinal lymphangiectasia (Waldmann's disease).

Choi EH, Reidel W, Coyle W
Gastroenterology 2011 Jul;141(1):e6-7. doi: 10.1053/j.gastro.2010.04.059. PMID: 21641905

Primary intestinal lymphangiectasia (Waldmann's disease).

Vignes S, Bellanger J
Orphanet J Rare Dis 2008 Feb 22;3:5. doi: 10.1186/1750-1172-3-5. PMID: 18294365 Free PMC Article

See all (19)

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Primary intestinal lymphangiectasia

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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