African-Colombian woman with preeclampsia and high-risk APOL1 genotype: A case report

• Published in: Medicine (Baltimore) 2024-11, Vol.103 (44), p.e40284
• Main Authors: Duran, Carlos E, Gutierrez-Medina, Juan David, Triviño Arias, Jacobo, Sandoval-Calle, Lina M, Barbosa, Mario, Useche, Elena, Diaz-Ordoñez, Lorena, Pachajoa, Harry
• Format: Article
• Language: English
• Subjects: Adolescent; Antihypertensive Agents - therapeutic use; Apolipoprotein L1 - genetics; Black People - genetics; Clinical Case Report; Colombia; Female; Genetic Predisposition to Disease; Genotype; Humans; Pre-Eclampsia - genetics; Pregnancy
• ISSN: 1536-5964; 0025-7974; 1536-5964
• DOI: 10.1097/MD.0000000000040284

Preeclampsia is one of the main causes of maternal morbidity and mortality worldwide. Even though preeclampsia is the most prevalent medical complication of pregnancy, it predominantly affects Black women when compared with other ethnicities. APOL1 G1 and G2 risk alleles are genetic risk factors for hypertension and more recently have been associated to the risk of developing preeclampsia. A 17-year-old African Colombian primigravid patient from the Colombian Pacific Coast with preeclampsia, grade 1 obesity, convulsive episodes and psychomotor agitation. The patient exhibited elevated blood pressure readings concomitant with 4 tonic-clonic episodes, tachycardia, Grade I edema, irregular uterine activity and recurrent convulsive episodes. A head computed tomography revealed posterior reversible encephalopathy syndrome along with cytotoxic edema. Genetic testing unveiled a high risk APOL1 genotype (G1/G2) and a confirmed matrilineal African genetic ancestry (haplogroup L3b). Initial management involved administration of labetalol and sodium nitroprusside infusions alongside neuroprotective management utilizing magnesium sulfate. Due to the diagnosis of eclampsia, pregnancy termination was performed via cesarean section. The additional antihypertensive therapeutic protocol with nitroprusside, labetalol, carvedilol, and diltiazem finally controlled the hypertensive crisis. Discharge was provided with family planning via subdermal implant contraception and established antihypertensive management. This is the first Latin American report of an underage patient with a hypertensive crisis of pregnancy associated with a G1/G2 high risk genotype and a verified matrilineal genetic ancestry represented by a haplogroup L3b. This case reflects the importance of considering genetic predisposition in the context of preeclampsia. A stratified approach to preeclampsia management that acknowledges genetic factors harbors the potential to significantly diminish the maternal morbidity and mortality entwined with this condition.