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Intestinal bleeding

MedGen UID:
75632
Concept ID:
C0267373
Finding; Pathologic Function
Synonyms: Intestinal haemorrhage; Intestinal hemorrhage
SNOMED CT: Intestinal hemorrhage (712510007)
 
HPO: HP:0002584

Definition

Bleeding from the intestines. [from HPO]

Conditions with this feature

Peutz-Jeghers syndrome
MedGen UID:
18404
Concept ID:
C0031269
Disease or Syndrome
Peutz-Jeghers syndrome (PJS) is characterized by the association of gastrointestinal (GI) polyposis, mucocutaneous pigmentation, and cancer predisposition. PJS-type hamartomatous polyps are most common in the small intestine (in order of prevalence: jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. GI polyps can result in chronic bleeding, anemia, and recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Recognition of the distinctive skin manifestations is important especially in individuals who have PJS as the result of a de novo pathogenic variant as these skin findings often predate GI signs and symptoms. Individuals with PJS are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated.
Blue rubber bleb nevus
MedGen UID:
83401
Concept ID:
C0346072
Congenital Abnormality
A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
Multiple cutaneous and mucosal venous malformations
MedGen UID:
325026
Concept ID:
C1838437
Congenital Abnormality
The condition multiple cutaneous and mucosal venous malformations (VMCM) is characterized by the presence of small, multifocal bluish cutaneous and/or mucosal venous malformations. They are usually present at birth. New lesions appear with time. Small lesions are usually asymptomatic; larger lesions can invade subcutaneous muscle and cause pain. Malignant transformation has not been reported.
Factor VII and Factor VIII, combined deficiency of
MedGen UID:
341995
Concept ID:
C1851377
Disease or Syndrome
Platelet-type bleeding disorder 12
MedGen UID:
414043
Concept ID:
C2751535
Disease or Syndrome
Platelet prostaglandin-endoperoxidase synthase-1 deficiency is a hematologic disorder characterized by mildly increased bleeding due to a platelet defect. The PTGS1 gene (176805) encodes prostaglandin-endoperoxidase synthase-1, also known as COX1 or PGHS1, which catalyzes the formation of prostaglandin G2 (PGG2) and prostaglandin H2 from arachidonic acid, and the downstream formation of thromboxane A2 (TXA2) and prostacyclin. Thromboxane A2 is important for platelet aggregation (summary by Matijevic-Aleksic et al., 1996).
Cerebroretinal microangiopathy with calcifications and cysts 1
MedGen UID:
1636142
Concept ID:
C4552029
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.

Professional guidelines

PubMed

Yamamoto H, Sakamoto H, Kumagai H, Abe T, Ishiguro S, Uchida K, Kawasaki Y, Saida Y, Sano Y, Takeuchi Y, Tajika M, Nakajima T, Banno K, Funasaka Y, Hori S, Yamaguchi T, Yoshida T, Ishikawa H, Iwama T, Okazaki Y, Saito Y, Matsuura N, Mutoh M, Tomita N, Akiyama T, Yamamoto T, Ishida H, Nakayama Y
Digestion 2023;104(5):335-347. Epub 2023 Apr 13 doi: 10.1159/000529799. PMID: 37054692
Kimura Y, Asako K, Kikuchi H, Kono H
Mod Rheumatol 2016;26(1):132-7. Epub 2015 Jul 18 doi: 10.3109/14397595.2015.1056956. PMID: 26025434
Kent AJ, Blackwell VJ, Travis SP
Curr Drug Deliv 2012 Jul;9(4):356-66. doi: 10.2174/156720112801323026. PMID: 22023204

Recent clinical studies

Etiology

Engelen MM, Vandesande J, De Bent J, Van Laer C, Labarque V, Jacquemin M, Peerlinck K, Hermans C, Verhamme P, Vanassche T
Haemophilia 2023 Jul;29(4):1049-1055. Epub 2023 Jun 5 doi: 10.1111/hae.14809. PMID: 37276345
Garg SS, Sharma A, Gupta J
Clin Immunol 2021 Oct;231:108842. Epub 2021 Aug 27 doi: 10.1016/j.clim.2021.108842. PMID: 34461289Free PMC Article
Bellio G, Kurihara H, Zago M, Tartaglia D, Chiarugi M, Coppola S, Biloslavo A, de Manzini N
ANZ J Surg 2020 Jul;90(7-8):1454-1458. Epub 2020 Jul 5 doi: 10.1111/ans.16128. PMID: 32627327
Jodele S, Dandoy CE, Lane A, Laskin BL, Teusink-Cross A, Myers KC, Wallace G, Nelson A, Bleesing J, Chima RS, Hirsch R, Ryan TD, Benoit S, Mizuno K, Warren M, Davies SM
Blood 2020 Mar 26;135(13):1049-1057. doi: 10.1182/blood.2019004218. PMID: 31932840Free PMC Article
Kelly DA
Indian J Pediatr 1999;66(1 Suppl):S104-9. PMID: 11132456

Diagnosis

Engelen MM, Vandesande J, De Bent J, Van Laer C, Labarque V, Jacquemin M, Peerlinck K, Hermans C, Verhamme P, Vanassche T
Haemophilia 2023 Jul;29(4):1049-1055. Epub 2023 Jun 5 doi: 10.1111/hae.14809. PMID: 37276345
Hanscom M, Singh A
Gastrointest Endosc Clin N Am 2021 Apr;31(2):307-316. Epub 2021 Feb 15 doi: 10.1016/j.giec.2020.12.006. PMID: 33743927
Papparella A, Nino F, Noviello C, Marte A, Parmeggiani P, Martino A, Cobellis G
World J Gastroenterol 2014 Jul 7;20(25):8173-8. doi: 10.3748/wjg.v20.i25.8173. PMID: 25009390Free PMC Article
Maconi G, Manes G, Porro GB
World J Gastroenterol 2008 Feb 28;14(8):1149-55. doi: 10.3748/wjg.14.1149. PMID: 18300338Free PMC Article
Kelly DA
Indian J Pediatr 1999;66(1 Suppl):S104-9. PMID: 11132456

Therapy

Engelen MM, Vandesande J, De Bent J, Van Laer C, Labarque V, Jacquemin M, Peerlinck K, Hermans C, Verhamme P, Vanassche T
Haemophilia 2023 Jul;29(4):1049-1055. Epub 2023 Jun 5 doi: 10.1111/hae.14809. PMID: 37276345
Maas LA, Krishna M, Parian AM
Dig Dis Sci 2023 Feb;68(2):357-369. Epub 2022 Aug 5 doi: 10.1007/s10620-022-07599-1. PMID: 35930123
Jodele S, Dandoy CE, Lane A, Laskin BL, Teusink-Cross A, Myers KC, Wallace G, Nelson A, Bleesing J, Chima RS, Hirsch R, Ryan TD, Benoit S, Mizuno K, Warren M, Davies SM
Blood 2020 Mar 26;135(13):1049-1057. doi: 10.1182/blood.2019004218. PMID: 31932840Free PMC Article
Nwose EU, Yee KC
Expert Opin Drug Metab Toxicol 2016 Sep;12(9):1081-7. Epub 2016 Jun 27 doi: 10.1080/17425255.2016.1201064. PMID: 27322160
Buemi M, Lacquaniti A, Bolignano D, Donato V, Fazio MR, Campo S, Coppolino G, Sturiale A
Kidney Blood Press Res 2008;31(5):330-6. Epub 2008 Oct 21 doi: 10.1159/000164277. PMID: 18936550

Prognosis

Hung W, Tsai TH, Chen JH
BMC Gastroenterol 2021 Oct 29;21(1):414. doi: 10.1186/s12876-021-01981-5. PMID: 34715811Free PMC Article
Hanscom M, Singh A
Gastrointest Endosc Clin N Am 2021 Apr;31(2):307-316. Epub 2021 Feb 15 doi: 10.1016/j.giec.2020.12.006. PMID: 33743927
Jodele S, Dandoy CE, Lane A, Laskin BL, Teusink-Cross A, Myers KC, Wallace G, Nelson A, Bleesing J, Chima RS, Hirsch R, Ryan TD, Benoit S, Mizuno K, Warren M, Davies SM
Blood 2020 Mar 26;135(13):1049-1057. doi: 10.1182/blood.2019004218. PMID: 31932840Free PMC Article
Katsambas A, Stefanaki C
Clin Dermatol 2005 May-Jun;23(3):227-37. doi: 10.1016/j.clindermatol.2004.06.002. PMID: 15896537
Kelly DA
Indian J Pediatr 1999;66(1 Suppl):S104-9. PMID: 11132456

Clinical prediction guides

Puia A, Schlanger D, Fetti A, Popa C, Necula A, Al Hajjar N
J Gastrointestin Liver Dis 2022 Dec 16;31(4):396-402. doi: 10.15403/jgld-4486. PMID: 36535052
Nukala K, Srinivasan VR, Sagar RV
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443490
Hanscom M, Singh A
Gastrointest Endosc Clin N Am 2021 Apr;31(2):307-316. Epub 2021 Feb 15 doi: 10.1016/j.giec.2020.12.006. PMID: 33743927
Yamamoto H, Kita H
Curr Opin Gastroenterol 2005 Sep;21(5):573-7. doi: 10.1097/01.mog.0000176440.03280.2a. PMID: 16093772
Katsambas A, Stefanaki C
Clin Dermatol 2005 May-Jun;23(3):227-37. doi: 10.1016/j.clindermatol.2004.06.002. PMID: 15896537

Recent systematic reviews

Di Franco G, Tagliaferri E, Pieroni E, Benedetti E, Guadagni S, Palmeri M, Furbetta N, Campani D, Di Candio G, Petrini M, Mosca F, Morelli L
Infection 2018 Jun;46(3):317-324. Epub 2018 Jan 22 doi: 10.1007/s15010-018-1115-7. PMID: 29357049
Marti C, Grosgurin O, Harbarth S, Combescure C, Abbas M, Rutschmann O, Perrier A, Garin N
PLoS One 2015;10(12):e0144032. Epub 2015 Dec 7 doi: 10.1371/journal.pone.0144032. PMID: 26641253Free PMC Article
García-Blázquez V, Vicente-Bártulos A, Olavarria-Delgado A, Plana MN, van der Winden D, Zamora J; EBM-Connect Collaboration
Eur Radiol 2013 May;23(5):1181-90. Epub 2012 Nov 29 doi: 10.1007/s00330-012-2721-x. PMID: 23192375
Prasad K, Garner P
Cochrane Database Syst Rev 2000;1999(2):CD000972. doi: 10.1002/14651858.CD000972. PMID: 10796562Free PMC Article
Davies NM
J Pharm Pharm Sci 1999 Jan-Apr;2(1):5-14. PMID: 10951657

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