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Preeclampsia/eclampsia 1(PEE1)

MedGen UID:
1807479
Concept ID:
C5574918
Pathologic Function
Synonym: PEE1
 
Gene (location): NOS3 (7q36.1)
 
Monarch Initiative: MONDO:0100467
OMIM®: 189800

Definition

Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011). Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/Eclampsia Susceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (609402) on chromosome 2p25, and PEE3 (609403) on chromosome 9p13. PEE4 (609404) is caused by mutation in the STOX1 gene (609397) on chromosome 10q22. PEE5 (614595) is caused by mutation in the CORIN gene (605236) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (132810) on chromosome 1q. [from OMIM]

Clinical features

From HPO
Eclampsia
MedGen UID:
4443
Concept ID:
C0013537
Disease or Syndrome
An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.
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.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Preeclampsia
MedGen UID:
18608
Concept ID:
C0032914
Pathologic Function
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).\n\nWomen 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.\n\nMany 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.\n\nIn 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.\n\nBetween 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.\n\nSevere 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.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Maternal hypertension
MedGen UID:
107882
Concept ID:
C0565599
Disease or Syndrome
Increased blood pressure during a pregnancy.
Elevated hepatic transaminase
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

Professional guidelines

PubMed

Remuzzi G, Ruggenenti P
Am J Kidney Dis 1991 Sep;18(3):285-305. doi: 10.1016/s0272-6386(12)80087-4. PMID: 1882820

Recent clinical studies

Etiology

Murray Horwitz ME, Rodriguez MI, Dissanayake M, Carmichael SL, Snowden JM
J Hypertens 2021 May 1;39(5):1009-1017. doi: 10.1097/HJH.0000000000002711. PMID: 33230021Free PMC Article
McDonald SD, Yusuf S, Sheridan P, Anand SS, Gerstein HC; Diabetes Reduction Assessment with Ramipril and Rosiglitazone Medication Trial Investigators
Diabetes Care 2008 Aug;31(8):1635-8. Epub 2008 May 5 doi: 10.2337/dc08-0621. PMID: 18458144Free PMC Article

Diagnosis

Murray Horwitz ME, Rodriguez MI, Dissanayake M, Carmichael SL, Snowden JM
J Hypertens 2021 May 1;39(5):1009-1017. doi: 10.1097/HJH.0000000000002711. PMID: 33230021Free PMC Article

Therapy

McDonald SD, Yusuf S, Sheridan P, Anand SS, Gerstein HC; Diabetes Reduction Assessment with Ramipril and Rosiglitazone Medication Trial Investigators
Diabetes Care 2008 Aug;31(8):1635-8. Epub 2008 May 5 doi: 10.2337/dc08-0621. PMID: 18458144Free PMC Article

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