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Fabry disease, a rare X-linked lysosomal storage disorder, presents unique challenges for women, particularly when considering family planning. This condition stems from a deficiency in the GLA gene,leading to a buildup of globotriaosylceramide (Gb3) in cells throughout the body. While traditionally considered a male-dominant disease, female carriers can experience a wide spectrum of symptoms, impacting reproductive health and posing complexities in genetic counseling. The MSD Manual details symptoms like skin wucherungen (growths), eye problems, kidney insufficiency, and heart disease. https://www.msdmanuals.com/de-de/heim/gesundheitsprobleme-von-kindern/erbliche-stoffwechselst%C3%B6rungen/fabry-krankheit
Japan exhibits a slightly higher prevalence of Fabry disease compared to many western countries, potentially due to founder effects and limited genetic diversity in certain regions. This increased prevalence necessitates heightened awareness among healthcare professionals and prospective parents.
X-linked Inheritance: As an X-linked disorder, the inheritance pattern differs between males and females. Males (XY) inherit the affected gene on their single X chromosome and typically exhibit more severe symptoms. Females (XX) have two X chromosomes; therefore, they can be:
Non-carriers: Inheriting two normal X chromosomes.
Carriers: inheriting one normal and one affected X chromosome.
Affected: Rarely, inheriting the affected gene on both X chromosomes.
X-Inactivation: In female carriers, a process called X-inactivation (lyonization) randomly silences one X chromosome in each cell. This leads to mosaicism - some cells express the normal gene, while others express the mutated gene. The proportion of cells expressing the mutated gene dictates the severity of symptoms in female carriers. This variability makes predicting symptom presentation challenging.
Skewed X-Inactivation: In some Japanese women, skewed X-inactivation is observed more frequently, meaning one X chromosome is preferentially inactivated. This can lead to a higher percentage of cells expressing the mutated GLA gene, resulting in more pronounced Fabry disease symptoms.
Fabry disease can affect various aspects of female reproductive health, influencing family planning decisions.
Ovarian Function: Gb3 accumulation can impact ovarian function, potentially leading to premature ovarian insufficiency (POI) or irregular menstrual cycles.
Pregnancy Complications: Women wiht Fabry disease have an increased risk of pregnancy complications, including:
Preeclampsia: High blood pressure and protein in the urine during pregnancy.
Gestational Diabetes: Diabetes developing during pregnancy.
Miscarriage: Loss of pregnancy before 20 weeks.
Preterm Birth: Delivery before 37 weeks of gestation.
Cardiac Complications: Fabry disease can cause cardiac issues like left ventricular hypertrophy, increasing the risk of complications during pregnancy and delivery, which place significant strain on the cardiovascular system.
Renal Involvement: Kidney disease, a common manifestation of Fabry disease, can worsen during pregnancy, potentially leading to renal failure.
Accurate diagnosis is crucial for informed family planning. Though, diagnosing Fabry disease in women can be challenging due to the variable symptom presentation.
Enzyme Assay: Measuring alpha-galactosidase A (α-Gal A) activity in plasma or leukocytes. Low levels suggest Fabry disease, but results can be affected by various factors.
Genetic Testing: GLA gene sequencing is the gold standard for diagnosis. It identifies the specific mutation and confirms carrier status. This is particularly critically important for Japanese women, given the potential for unique mutations within the population.
Biomarker Analysis: Measuring Gb3 levels in plasma or urine can aid in diagnosis, especially in cases with borderline enzyme activity.
Prenatal Diagnosis: For couples at risk of having a child with Fabry disease, prenatal diagnostic options include:
Chorionic Villus Sampling (CVS): Performed at 10-13 weeks of gestation.
amniocentesis: Performed at 15-20 weeks of gestation.
Preimplantation Genetic Diagnosis (PGD): performed during in vitro fertilization (IVF) to screen embryos for the GLA* gene mutation before implantation.
Effective management of Fab
Dr. Priya Deshmukh Senior Editor, Health Dr. Deshmukh is a practicing physician and renowned medical journalist, honored for her investigative reporting on public health. She is dedicated to delivering accurate, evidence-based coverage on health, wellness, and medical innovations.
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