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Preeclampsia/eclampsia 4(PEE4)

MedGen UID:
322874
Concept ID:
C1836255
Disease or Syndrome
Synonym: PEE4
 
Gene (location): STOX1 (10q22.1)
 
Monarch Initiative: MONDO:0012266
OMIM®: 609404

Definition

Severe preeclampsia can also affect the fetus, with impairment of blood and oxygen flow leading to growth problems or stillbirth. Infants delivered early due to preeclampsia may have complications associated with prematurity, such as breathing problems caused by underdeveloped lungs.

Between 10 and 20 percent of women with severe preeclampsia develop another potentially life-threatening complication called HELLP syndrome. HELLP stands for hemolysis (premature red blood cell breakdown), elevated liver enzyme levels, and low platelets (cells involved in blood clotting), which are the key features of this condition.

In many cases, symptoms of preeclampsia go away within a few days after the baby is born. In severe cases, however, preeclampsia can damage the mother's organs, such as the heart, liver, and kidneys, and can lead to life-threatening complications. Extremely high blood pressure in the mother can cause bleeding in the brain (hemorrhagic stroke). The effects of high blood pressure on the brain (hypertensive encephalopathy) may also result in seizures. If seizures occur, the condition is considered to have worsened to eclampsia, which can result in coma. About 1 in 200 women with untreated preeclampsia develop eclampsia. Eclampsia can also develop without any obvious signs of preeclampsia.

Many women with mild preeclampsia do not feel ill, and the condition is often first detected through blood pressure and urine testing in their doctor's office. In addition to hypertension and proteinuria, signs and symptoms of preeclampsia can include excessive swelling (edema) of the face or hands and a weight gain of more than 3 to 5 pounds in a week due to fluid retention. Affected women may also experience headaches, dizziness, irritability, shortness of breath, a decrease in urination, upper abdominal pain, and nausea or vomiting. Vision changes may develop, including flashing lights or spots, increased sensitivity to light (photophobia), blurry vision, or temporary blindness.

Women who have had preeclampsia have approximately twice the lifetime risk of heart disease and stroke than do women in the general population. Researchers suggest that preeclampsia, heart disease, and stroke may share common risk factors. Women who have diseases such as obesity, hypertension, heart disease, diabetes, or kidney disease before they become pregnant have an increased risk of developing preeclampsia. Preeclampsia is most likely to occur in a woman's first pregnancy, although it can occur in subsequent pregnancies, particularly in women with other health conditions.

Preeclampsia is a complication of pregnancy in which affected women develop high blood pressure (hypertension); they can also have abnormally high levels of protein in their urine (proteinuria). This condition usually occurs in the last few months of pregnancy and often requires early delivery of the infant. However, this condition can also appear shortly after giving birth (postpartum preeclampsia). [from MedlinePlus Genetics]

Professional guidelines

PubMed

Scudo M, Petruzziello L, Carbone F, Logoteta A, Paoni Saccone G, D'Oria O, Galoppi P, Brunelli R, Monti M
Minerva Obstet Gynecol 2022 Aug;74(4):348-355. Epub 2021 Apr 20 doi: 10.23736/S2724-606X.21.04733-3. PMID: 33876898
Erez O, Mastrolia SA, Thachil J
Am J Obstet Gynecol 2015 Oct;213(4):452-63. Epub 2015 Mar 31 doi: 10.1016/j.ajog.2015.03.054. PMID: 25840271
López-Pulles R, González-Andrade F, Durán-Rodas M, Ayala J, Carrillo R, Buitrón LR, Chuga J, Moya W
Hypertens Pregnancy 2010;29(4):410-8. doi: 10.3109/10641950903572258. PMID: 20701469

Curated

UK NICE guideline (NG133), Hypertension in pregnancy: diagnosis and management, 2023

Recent clinical studies

Etiology

Simmons D, Immanuel J, Hague WM, Teede H, Nolan CJ, Peek MJ, Flack JR, McLean M, Wong V, Hibbert E, Kautzky-Willer A, Harreiter J, Backman H, Gianatti E, Sweeting A, Mohan V, Enticott J, Cheung NW; TOBOGM Research Group
N Engl J Med 2023 Jun 8;388(23):2132-2144. Epub 2023 May 5 doi: 10.1056/NEJMoa2214956. PMID: 37144983
Rayes B, Ardissino M, Slob EAW, Patel KHK, Girling J, Ng FS
JAMA Netw Open 2023 Feb 1;6(2):e230034. doi: 10.1001/jamanetworkopen.2023.0034. PMID: 36800181Free PMC Article
Li P, Wang H, Guo L, Gou X, Chen G, Lin D, Fan D, Guo X, Liu Z
BMC Med 2022 Nov 15;20(1):443. doi: 10.1186/s12916-022-02657-x. PMID: 36380372Free PMC Article
Villar J, Ariff S, Gunier RB, Thiruvengadam R, Rauch S, Kholin A, Roggero P, Prefumo F, do Vale MS, Cardona-Perez JA, Maiz N, Cetin I, Savasi V, Deruelle P, Easter SR, Sichitiu J, Soto Conti CP, Ernawati E, Mhatre M, Teji JS, Liu B, Capelli C, Oberto M, Salazar L, Gravett MG, Cavoretto PI, Nachinab VB, Galadanci H, Oros D, Ayede AI, Sentilhes L, Bako B, Savorani M, Cena H, García-May PK, Etuk S, Casale R, Abd-Elsalam S, Ikenoue S, Aminu MB, Vecciarelli C, Duro EA, Usman MA, John-Akinola Y, Nieto R, Ferrazi E, Bhutta ZA, Langer A, Kennedy SH, Papageorghiou AT
JAMA Pediatr 2021 Aug 1;175(8):817-826. doi: 10.1001/jamapediatrics.2021.1050. PMID: 33885740Free PMC Article
Cerdeira AS, O'Sullivan J, Ohuma EO, Harrington D, Szafranski P, Black R, Mackillop L, Impey L, Greenwood C, James T, Smith I, Papageorghiou AT, Knight M, Vatish M
Hypertension 2019 Oct;74(4):983-990. Epub 2019 Aug 12 doi: 10.1161/HYPERTENSIONAHA.119.12739. PMID: 31401877Free PMC Article

Diagnosis

Simmons D, Immanuel J, Hague WM, Teede H, Nolan CJ, Peek MJ, Flack JR, McLean M, Wong V, Hibbert E, Kautzky-Willer A, Harreiter J, Backman H, Gianatti E, Sweeting A, Mohan V, Enticott J, Cheung NW; TOBOGM Research Group
N Engl J Med 2023 Jun 8;388(23):2132-2144. Epub 2023 May 5 doi: 10.1056/NEJMoa2214956. PMID: 37144983
Wagnew Meazaw M, Chojenta C, Taddele T, Loxton D
Pregnancy Hypertens 2022 Aug;29:64-71. Epub 2022 Jul 2 doi: 10.1016/j.preghy.2022.06.006. PMID: 35797744
Villar J, Ariff S, Gunier RB, Thiruvengadam R, Rauch S, Kholin A, Roggero P, Prefumo F, do Vale MS, Cardona-Perez JA, Maiz N, Cetin I, Savasi V, Deruelle P, Easter SR, Sichitiu J, Soto Conti CP, Ernawati E, Mhatre M, Teji JS, Liu B, Capelli C, Oberto M, Salazar L, Gravett MG, Cavoretto PI, Nachinab VB, Galadanci H, Oros D, Ayede AI, Sentilhes L, Bako B, Savorani M, Cena H, García-May PK, Etuk S, Casale R, Abd-Elsalam S, Ikenoue S, Aminu MB, Vecciarelli C, Duro EA, Usman MA, John-Akinola Y, Nieto R, Ferrazi E, Bhutta ZA, Langer A, Kennedy SH, Papageorghiou AT
JAMA Pediatr 2021 Aug 1;175(8):817-826. doi: 10.1001/jamapediatrics.2021.1050. PMID: 33885740Free PMC Article
Cerdeira AS, O'Sullivan J, Ohuma EO, Harrington D, Szafranski P, Black R, Mackillop L, Impey L, Greenwood C, James T, Smith I, Papageorghiou AT, Knight M, Vatish M
Hypertension 2019 Oct;74(4):983-990. Epub 2019 Aug 12 doi: 10.1161/HYPERTENSIONAHA.119.12739. PMID: 31401877Free PMC Article
Wilkerson RG, Ogunbodede AC
Emerg Med Clin North Am 2019 May;37(2):301-316. doi: 10.1016/j.emc.2019.01.008. PMID: 30940374

Therapy

Simmons D, Immanuel J, Hague WM, Teede H, Nolan CJ, Peek MJ, Flack JR, McLean M, Wong V, Hibbert E, Kautzky-Willer A, Harreiter J, Backman H, Gianatti E, Sweeting A, Mohan V, Enticott J, Cheung NW; TOBOGM Research Group
N Engl J Med 2023 Jun 8;388(23):2132-2144. Epub 2023 May 5 doi: 10.1056/NEJMoa2214956. PMID: 37144983
Rayes B, Ardissino M, Slob EAW, Patel KHK, Girling J, Ng FS
JAMA Netw Open 2023 Feb 1;6(2):e230034. doi: 10.1001/jamanetworkopen.2023.0034. PMID: 36800181Free PMC Article
Li P, Wang H, Guo L, Gou X, Chen G, Lin D, Fan D, Guo X, Liu Z
BMC Med 2022 Nov 15;20(1):443. doi: 10.1186/s12916-022-02657-x. PMID: 36380372Free PMC Article
Cerdeira AS, O'Sullivan J, Ohuma EO, Harrington D, Szafranski P, Black R, Mackillop L, Impey L, Greenwood C, James T, Smith I, Papageorghiou AT, Knight M, Vatish M
Hypertension 2019 Oct;74(4):983-990. Epub 2019 Aug 12 doi: 10.1161/HYPERTENSIONAHA.119.12739. PMID: 31401877Free PMC Article
Wilkerson RG, Ogunbodede AC
Emerg Med Clin North Am 2019 May;37(2):301-316. doi: 10.1016/j.emc.2019.01.008. PMID: 30940374

Prognosis

Ledgerwood C, Angelides M, Idler J, Smith B, DuMont T, Cheema T, Barker B
Crit Care Nurs Q 2023 Oct-Dec 01;46(4):391-397. doi: 10.1097/CNQ.0000000000000474. PMID: 37684734
Rayes B, Ardissino M, Slob EAW, Patel KHK, Girling J, Ng FS
JAMA Netw Open 2023 Feb 1;6(2):e230034. doi: 10.1001/jamanetworkopen.2023.0034. PMID: 36800181Free PMC Article
Villar J, Ariff S, Gunier RB, Thiruvengadam R, Rauch S, Kholin A, Roggero P, Prefumo F, do Vale MS, Cardona-Perez JA, Maiz N, Cetin I, Savasi V, Deruelle P, Easter SR, Sichitiu J, Soto Conti CP, Ernawati E, Mhatre M, Teji JS, Liu B, Capelli C, Oberto M, Salazar L, Gravett MG, Cavoretto PI, Nachinab VB, Galadanci H, Oros D, Ayede AI, Sentilhes L, Bako B, Savorani M, Cena H, García-May PK, Etuk S, Casale R, Abd-Elsalam S, Ikenoue S, Aminu MB, Vecciarelli C, Duro EA, Usman MA, John-Akinola Y, Nieto R, Ferrazi E, Bhutta ZA, Langer A, Kennedy SH, Papageorghiou AT
JAMA Pediatr 2021 Aug 1;175(8):817-826. doi: 10.1001/jamapediatrics.2021.1050. PMID: 33885740Free PMC Article
Cerdeira AS, O'Sullivan J, Ohuma EO, Harrington D, Szafranski P, Black R, Mackillop L, Impey L, Greenwood C, James T, Smith I, Papageorghiou AT, Knight M, Vatish M
Hypertension 2019 Oct;74(4):983-990. Epub 2019 Aug 12 doi: 10.1161/HYPERTENSIONAHA.119.12739. PMID: 31401877Free PMC Article
Ortiz C, Rondeau NU, Moore LE, Mulla ZD
South Med J 2018 Sep;111(9):544-548. doi: 10.14423/SMJ.0000000000000854. PMID: 30180252

Clinical prediction guides

Simmons D, Immanuel J, Hague WM, Teede H, Nolan CJ, Peek MJ, Flack JR, McLean M, Wong V, Hibbert E, Kautzky-Willer A, Harreiter J, Backman H, Gianatti E, Sweeting A, Mohan V, Enticott J, Cheung NW; TOBOGM Research Group
N Engl J Med 2023 Jun 8;388(23):2132-2144. Epub 2023 May 5 doi: 10.1056/NEJMoa2214956. PMID: 37144983
Rayes B, Ardissino M, Slob EAW, Patel KHK, Girling J, Ng FS
JAMA Netw Open 2023 Feb 1;6(2):e230034. doi: 10.1001/jamanetworkopen.2023.0034. PMID: 36800181Free PMC Article
Li P, Wang H, Guo L, Gou X, Chen G, Lin D, Fan D, Guo X, Liu Z
BMC Med 2022 Nov 15;20(1):443. doi: 10.1186/s12916-022-02657-x. PMID: 36380372Free PMC Article
Vega-Fernández AG, Zevallos-Vargas BM, Flores-Figueroa FDP, Holguín-Plasencia JC, Centeno-Fuentes LMG, Ayquipa-Gil SA, Lescano-Alva RA, Arrasco-Castro KP, Alvarado-Herrera HA, Zafra-Alegre WR, Idrogo-Cayotopa EJ, Reyes-Carranza CP, Ramírez-Gamarra LK, Peña-Estrella JG, Pardo-Carrasco AM, Suárez-Rebaza SA
Medwave 2021 Aug 30;21(7):e8454. doi: 10.5867/medwave.2021.07.8454. PMID: 34519722
Cerdeira AS, O'Sullivan J, Ohuma EO, Harrington D, Szafranski P, Black R, Mackillop L, Impey L, Greenwood C, James T, Smith I, Papageorghiou AT, Knight M, Vatish M
Hypertension 2019 Oct;74(4):983-990. Epub 2019 Aug 12 doi: 10.1161/HYPERTENSIONAHA.119.12739. PMID: 31401877Free PMC Article

Recent systematic reviews

McDougall A, Nguyen R, Nguyen PY, Allen C, Cheang S, Makama M, Mills K, Hastie R, Ammerdorffer A, Gulmezoglu AM, Vogel JP
Am J Obstet Gynecol MFM 2024 Apr;6(4):101322. Epub 2024 Mar 4 doi: 10.1016/j.ajogmf.2024.101322. PMID: 38447676
Tang W, Zhou LJ, Zhang WQ, Jia YJ, Hu FH, Chen HL
Schizophr Res 2023 Dec;262:156-167. Epub 2023 Nov 16 doi: 10.1016/j.schres.2023.11.001. PMID: 37979419
Schliep KC, Mclean H, Yan B, Qeadan F, Theilen LH, de Havenon A, Majersik JJ, Østbye T, Sharma S, Varner MW
Hypertension 2023 Feb;80(2):257-267. Epub 2022 Nov 8 doi: 10.1161/HYPERTENSIONAHA.122.19399. PMID: 36345823Free PMC Article
Hoodbhoy Z, Mohammed N, Nathani KR, Sattar S, Chowdhury D, Maskatia S, Tierney S, Hasan B, Das JK
Am J Perinatol 2023 Mar;40(4):363-374. Epub 2021 May 3 doi: 10.1055/s-0041-1728823. PMID: 33940650
Bandeira DB, Olivatti TOF, Bolfi F, Boguszewski CL, Dos Santos Nunes-Nogueira V
Pituitary 2022 Jun;25(3):352-362. Epub 2022 Jan 30 doi: 10.1007/s11102-022-01208-0. PMID: 35098440

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    Practice guidelines

    • PubMed
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    Curated

    • NICE, 2023
      UK NICE guideline (NG133), Hypertension in pregnancy: diagnosis and management, 2023

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