The Impact of Gender, Puberty Onset and Pregnancy in Patients with POLG-Related Epilepsy
Abstract number :
3.245
Submission category :
4. Clinical Epilepsy / 4E. Women's Issues
Year :
2019
Submission ID :
2422143
Source :
www.aesnet.org
Presentation date :
12/9/2019 1:55:12 PM
Published date :
Nov 25, 2019, 12:14 PM
Authors :
Omar Hikmat, Department of Clinical Medicine (K1), University of Bergen, Norway.; Karin Naess, Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Martin Engvall, Centre for Inherited Metabolic Diseases,; Claus Kli
Rationale: Variants in POLG, the gene encoding the catalytic subunit of DNA polymerase gamma, are the most common cause of inherited mitochondrial disorders and present with spectrum of phenotypes affecting both males and females with disease debut at any age. Epilepsy is particularly common in individuals with POLG disease. We aimed to study the impact of gender, puberty-onset and pregnancy on the expression of POLG disease. Methods: Clinical, laboratory, and genetic data of 155 individuals with POLG disease were collected retrospectively. Patients were recruited from seven European countries ( Norway, Finland, Sweden, Denmark, The Netherlands, Spain and the United Kingdom ). The age of the disease onset and the onset of each individual symptom were identified and analyzed separately into two groups according to the sex. Women at child-bearing age were identified. The available pregnancy data had been used to study the impact of pregnancy on the disease. Results: Males with POLG disease were more severely affected as they presented earlier compared to females. The onset of puberty had a negative impact on females, as those who remained asymptomatic during the childhood had disease debut around the puberty- onset and were more severely affected compared to males. Pregnancy had also a negative impact as 71% (n=10/14) of women at child- bearing age had either disease debut or deterioration (increased seizures frequency include status epilepticus) during pregnancy. Conclusions: Gender and puberty- onset had a clear impact on the expression of POLG disease, this is particularly true in females as both onset and disease severity were associated with puberty-onset. Furthermore, pregnancy was a clear high risk factor for both disease debut and deterioration. Women with POLG disease should be consulted about the high risk of pregnancy. Close clinical and laboratory monitoring, particularly during the second trimester, is highly recommended for those who choose to complete their pregnancy. Funding: This work was supported by grants from the Western Norway Regional Health Authority (Helse-Vest, grants no.911944).
Clinical Epilepsy