Symptoms of Fabry Disease
Fabry disease is characterized by various symptoms that can affect different parts of the body. These symptoms include:
- Pain in the hands and feet
- Clusters of dark red spots on the skin
- Cloudiness in the cornea
- Hearing loss
- Inability to sweat
When the internal organs are affected, the accumulation of fatty substances can have serious consequences. This includes an increased risk of heart attacks, strokes, and kidney damage. In cases of late-onset Fabry disease, the kidneys and heart are usually the main organs affected.
Genetics
Fabry disease is a genetic disorder that is closely associated with the X chromosome. This genetic link helps explain how the condition is inherited within families. In males, who have only one X chromosome, inheriting the gene responsible for Fabry disease means that they will develop the condition. This is because they have no other copy of the gene to compensate for the defective one.
Females, on the other hand, have two X chromosomes. They may inherit a functional copy of the gene from their other parent, which can mitigate the severity of symptoms. However, even one defective copy of the gene can lead to mild to severe symptoms in females affected by Fabry disease.
When it comes to passing on Fabry disease to future generations, the chances differ for males and females. A woman with Fabry disease has a 50/50 probability of passing it on to her children. On the other hand, a man affected by Fabry disease can only pass it on to his daughters through their second X chromosome, while his sons will not inherit the condition.