Don't let the rarity of Fabry disease leave you in the dark. Understanding its genetic roots, symptoms, and breakthrough treatments is the first step toward effective management and a better quality of life. Get the essential facts now.
What are the main causes of Fabry disease?
- The primary cause is a mutation in the GLA gene, which is responsible for making an essential enzyme called alpha-galactosidase A, or alpha-GAL.
- This genetic defect leads to a deficiency of the alpha-GAL enzyme, causing a harmful buildup of a fatty substance known as GL-3 in cells.
- Fabry disease inheritance is X-linked, meaning the faulty gene is passed from parent to child on the X chromosome, affecting both males and females.
Key symptoms of Fabry disease to watch for
- One of the earliest signs is episodes of severe burning pain in the hands and feet, often triggered by exercise, fever, fatigue, or stress.
- Many individuals develop a distinctive dark red or purplish skin rash, known as angiokeratomas, typically found between the belly button and the knees.
- Over time, the condition can cause serious damage to major organs, leading to kidney failure, heart disease, and an increased risk of stroke.
How can you prevent Fabry disease effectively?
- As Fabry disease is an inherited genetic condition, it cannot be prevented in an individual who has already inherited the mutated GLA gene from a parent.
- Genetic counseling is a crucial tool for prospective parents with a family history of the disease to understand the potential risks of passing it on.
- Early Fabry disease diagnosis through screening allows for prompt treatment, which can help prevent or delay the onset of severe, irreversible organ damage.
>>> Understand more about: Ichthyosis – types, causes and treatment options
Learn about through Fabry Disease medical images
>>> Related articles: Epidermolysis bullosa – symptoms, diagnosis and care
While there is no cure, advancements like Fabry disease enzyme replacement therapy have significantly improved outcomes. Living with Fabry disease is challenging, but proactive care can greatly enhance a patient's life expectancy and well-being.
>>> Discover more: Gaucher disease – symptoms, causes and treatment
