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Hematemesis

MedGen UID:
6770
Concept ID:
C0018926
Sign or Symptom
Synonym: Hematemeses
SNOMED CT: Hematemesis (8765009); Vomiting of blood (8765009); Vomiting blood (8765009)
 
HPO: HP:0002248

Definition

The vomiting of blood. [from HPO]

Term Hierarchy

Conditions with this feature

Wiskott-Aldrich syndrome
MedGen UID:
21921
Concept ID:
C0043194
Disease or Syndrome
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.
Cholestasis-pigmentary retinopathy-cleft palate syndrome
MedGen UID:
208652
Concept ID:
C0795969
Disease or Syndrome
MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.
Telangiectasia, hereditary hemorrhagic, type 2
MedGen UID:
324960
Concept ID:
C1838163
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.
Congenital afibrinogenemia
MedGen UID:
749036
Concept ID:
C2584774
Disease or Syndrome
Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia; 616004) of the circulating fibrinogen or both (hypodysfibrinogenemia; see 616004). Afibrinogenemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial hemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. Menstruating women may experience menometrorrhagia. First-trimester abortion is common. Both arterial and venous thromboembolic complications have been reported (summary by de Moerloose and Neerman-Arbez, 2009). Hypofibrinogenemia is characterized by reduced amounts of immunoreactive fibrinogen. Patients are often heterozygous carriers of afibrinogenemia mutations and are usually asymptomatic. However, they may bleed when exposed to trauma or if they have a second associated hemostatic abnormality. Women may experience miscarriages. Liver disease occurs in rare cases (summary by de Moerloose and Neerman-Arbez, 2009).
Aicardi-Goutieres syndrome 7
MedGen UID:
854829
Concept ID:
C3888244
Disease or Syndrome
Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.
Polycystic kidney disease 4
MedGen UID:
1621793
Concept ID:
C4540575
Disease or Syndrome
Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes and is a cause of significant renal and liver-related morbidity and mortality in children. The majority of individuals with ARPKD present in the neonatal period with enlarged echogenic kidneys. Renal disease is characterized by nephromegaly, hypertension, and varying degrees of renal dysfunction. More than 50% of affected individuals with ARPKD progress to end-stage renal disease (ESRD) within the first decade of life; ESRD may require kidney transplantation. Pulmonary hypoplasia resulting from oligohydramnios occurs in a number of affected infants. Approximately 30% of these infants die in the neonatal period or within the first year of life from respiratory insufficiency or superimposed pulmonary infections. With neonatal respiratory support and renal replacement therapies, the long-term survival of these infants has improved to greater than 80%. As advances in renal replacement therapy and kidney transplantation improve long-term survival, it is likely that clinical hepatobiliary disease will become a major feature of the natural history of ARPKD. In addition, a subset of individuals with this disorder are identified with hepatosplenomegaly; the renal disease is often mild and may be discovered incidentally during imaging studies of the abdomen. Approximately 50% of infants will have clinical evidence of liver involvement at diagnosis although histologic hepatic fibrosis is invariably present at birth. This can lead to progressive portal hypertension with resulting esophageal or gastric varices, enlarged hemorrhoids, splenomegaly, hypersplenism, protein-losing enteropathy, and gastrointestinal bleeding. Other hepatic findings include nonobstructed dilatation of the intrahepatic bile ducts (Caroli syndrome) and dilatation of the common bile duct, which may lead to recurrent or persistent bacterial ascending cholangitis due to dilated bile ducts and stagnant bile flow. An increasing number of affected individuals surviving the neonatal period will eventually require portosystemic shunting or liver transplantation for complications of portal hypertension or cholangitis. The classic neonatal presentation of ARPKD notwithstanding, there is significant variability in age and presenting clinical symptoms related to the relative degree of renal and biliary abnormalities.
Telangiectasia, hereditary hemorrhagic, type 1
MedGen UID:
1643786
Concept ID:
C4551861
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.

Professional guidelines

PubMed

Wilkins T, Wheeler B, Carpenter M
Am Fam Physician 2020 Mar 1;101(5):294-300. PMID: 32109037
Kamboj AK, Hoversten P, Leggett CL
Mayo Clin Proc 2019 Apr;94(4):697-703. doi: 10.1016/j.mayocp.2019.01.022. PMID: 30947833
Johnstone C, Rich SE
Ann Palliat Med 2018 Apr;7(2):265-273. Epub 2017 Dec 18 doi: 10.21037/apm.2017.11.01. PMID: 29307210

Recent clinical studies

Etiology

Samii A, Norouzi M, Ahmadi A, Dorgalaleh A
Semin Thromb Hemost 2022 Jul;48(5):529-541. Epub 2022 Jan 12 doi: 10.1055/s-0041-1741571. PMID: 35021252
Costable NJ, Greenwald DA
Clin Geriatr Med 2021 Feb;37(1):155-172. doi: 10.1016/j.cger.2020.09.001. PMID: 33213769
Kamboj AK, Hoversten P, Leggett CL
Mayo Clin Proc 2019 Apr;94(4):697-703. doi: 10.1016/j.mayocp.2019.01.022. PMID: 30947833
Cordovilla R, Bollo de Miguel E, Nuñez Ares A, Cosano Povedano FJ, Herráez Ortega I, Jiménez Merchán R
Arch Bronconeumol 2016 Jul;52(7):368-77. Epub 2016 Feb 9 doi: 10.1016/j.arbres.2015.12.002. PMID: 26873518
Villanueva C, Colomo A, Bosch A, Concepción M, Hernandez-Gea V, Aracil C, Graupera I, Poca M, Alvarez-Urturi C, Gordillo J, Guarner-Argente C, Santaló M, Muñiz E, Guarner C
N Engl J Med 2013 Jan 3;368(1):11-21. doi: 10.1056/NEJMoa1211801. PMID: 23281973

Diagnosis

Luoto TT, Pakarinen MP
Arch Dis Child 2021 Oct;106(10):939-940. Epub 2021 Mar 10 doi: 10.1136/archdischild-2020-319600. PMID: 33692083
Dupont J, Van Langenhove C, Colpaert E
Gastroenterology 2020 Sep;159(3):e9-e10. Epub 2020 Mar 3 doi: 10.1053/j.gastro.2020.02.051. PMID: 32142775
Kamboj AK, Hoversten P, Leggett CL
Mayo Clin Proc 2019 Apr;94(4):697-703. doi: 10.1016/j.mayocp.2019.01.022. PMID: 30947833
Murray KF, Christie DL
Pediatr Rev 1998 Oct;19(10):337-41. doi: 10.1542/pir.19-10-337. PMID: 9785933
Forrest JA, Finlayson ND, Shearman DJ
Lancet 1974 Aug 17;2(7877):394-7. doi: 10.1016/s0140-6736(74)91770-x. PMID: 4136718

Therapy

Mauro A, De Grazia F, Anderloni A, Di Sabatino A
Curr Opin Gastroenterol 2022 Sep 1;38(5):443-449. doi: 10.1097/MOG.0000000000000859. PMID: 35916320
Jilg N, Lau ES, Baker MA, Levy BD, Loscalzo J
N Engl J Med 2021 Mar 4;384(9):860-865. doi: 10.1056/NEJMcps2020668. PMID: 33657298
MacKay S, Carney AS, Catcheside PG, Chai-Coetzer CL, Chia M, Cistulli PA, Hodge JC, Jones A, Kaambwa B, Lewis R, Ooi EH, Pinczel AJ, McArdle N, Rees G, Singh B, Stow N, Weaver EM, Woodman RJ, Woods CM, Yeo A, McEvoy RD
JAMA 2020 Sep 22;324(12):1168-1179. doi: 10.1001/jama.2020.14265. PMID: 32886102Free PMC Article
Dupont J, Van Langenhove C, Colpaert E
Gastroenterology 2020 Sep;159(3):e9-e10. Epub 2020 Mar 3 doi: 10.1053/j.gastro.2020.02.051. PMID: 32142775
Villanueva C, Colomo A, Bosch A, Concepción M, Hernandez-Gea V, Aracil C, Graupera I, Poca M, Alvarez-Urturi C, Gordillo J, Guarner-Argente C, Santaló M, Muñiz E, Guarner C
N Engl J Med 2013 Jan 3;368(1):11-21. doi: 10.1056/NEJMoa1211801. PMID: 23281973

Prognosis

Jilg N, Lau ES, Baker MA, Levy BD, Loscalzo J
N Engl J Med 2021 Mar 4;384(9):860-865. doi: 10.1056/NEJMcps2020668. PMID: 33657298
van Wessel DB, Witt M, Bax N, Verkade HJ, Scheenstra R, de Kleine RH, Hulscher JB
Eur J Pediatr Surg 2018 Oct;28(5):439-444. Epub 2017 Jun 28 doi: 10.1055/s-0037-1603987. PMID: 28658682
Tapias LF, Morse CR, Mathisen DJ, Gaissert HA, Wright CD, Allan JS, Lanuti M
Ann Thorac Surg 2017 Oct;104(4):1123-1130. Epub 2017 Aug 25 doi: 10.1016/j.athoracsur.2017.06.017. PMID: 28847539
Kumar R, Mills AM
Emerg Med Clin North Am 2011 May;29(2):239-52, viii. doi: 10.1016/j.emc.2011.01.003. PMID: 21515178
Sandhu BK, Sawczenko A
Indian J Pediatr 1999;66(1 Suppl):S52-5. PMID: 11132470

Clinical prediction guides

Colón AR, Kamboj AK, Hagen CE, Rattan P, Coelho-Prabhu N, Buttar NS, Bruining DH, Storm AC, Larson MV, Viggiano TR, Wong Kee Song LM, Wang KK, Iyer PG, Katzka DA, Leggett CL
Mayo Clin Proc 2022 Oct;97(10):1849-1860. Epub 2022 Jun 30 doi: 10.1016/j.mayocp.2022.03.018. PMID: 35779957
Okamoto T, Suzuki H, Fukuda K
Medicine (Baltimore) 2021 Nov 5;100(44):e27672. doi: 10.1097/MD.0000000000027672. PMID: 34871245Free PMC Article
Costable NJ, Greenwald DA
Clin Geriatr Med 2021 Feb;37(1):155-172. doi: 10.1016/j.cger.2020.09.001. PMID: 33213769
MacKay S, Carney AS, Catcheside PG, Chai-Coetzer CL, Chia M, Cistulli PA, Hodge JC, Jones A, Kaambwa B, Lewis R, Ooi EH, Pinczel AJ, McArdle N, Rees G, Singh B, Stow N, Weaver EM, Woodman RJ, Woods CM, Yeo A, McEvoy RD
JAMA 2020 Sep 22;324(12):1168-1179. doi: 10.1001/jama.2020.14265. PMID: 32886102Free PMC Article
Wilkins T, Wheeler B, Carpenter M
Am Fam Physician 2020 Mar 1;101(5):294-300. PMID: 32109037

Recent systematic reviews

Karlafti E, Tsavdaris D, Kotzakioulafi E, Protopapas AA, Kaiafa G, Netta S, Savopoulos C, Michalopoulos A, Paramythiotis D
Medicina (Kaunas) 2023 Aug 21;59(8) doi: 10.3390/medicina59081500. PMID: 37629790Free PMC Article
Akinkugbe O, James AL, Ostrow O, Everett T, Wolter NE, McKinnon NK
Pediatrics 2022 Sep 1;150(3) doi: 10.1542/peds.2022-057477. PMID: 36032017
Luo W, Wu B, Tang L, Li G, Chen H, Yin X
J Ethnopharmacol 2021 Nov 15;280:114475. Epub 2021 Aug 4 doi: 10.1016/j.jep.2021.114475. PMID: 34363929
Schizas D, Tomara N, Katsaros I, Sakellariou S, Machairas N, Paspala A, Tsilimigras DI, Papanikolaou IS, Mantas D
ANZ J Surg 2021 Mar;91(3):269-275. Epub 2020 Jul 20 doi: 10.1111/ans.16160. PMID: 32687691
Hakim S, Bortman J, Orosey M, Cappell MS
Medicine (Baltimore) 2017 Mar;96(13):e6413. doi: 10.1097/MD.0000000000006413. PMID: 28353569Free PMC Article

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