What is Fabry Disease?
Fabry disease is a type of disease that carries a faulty gene that came in inheritance by the biological parents of an individual that can be life-threatening and progressive if the treatment is delayed for any reason.
It is a rare genetic disorder that attacks the essential enzymes of the body. The loss of enzymes can cause damage to the following organs of the body:
- The heart
- The lungs
- Kidneys
- The skin
- The brain
- Stomach
Which gender gets affected by Fabry disease?
This disease is not gendered biased and hence can attack anyone. Men and women of the ethnic groups can get affected by it. In most of the cases, men have been seen getting affected by this rare disease.
What is the history behind the name Fabry disease?
It is said that Fabry disease is a rare disease that was first described by a German doctor Johannes Fabry. Later in the same year, William Anderson described the symptoms too and ever since this disease is also known as Anderson-Fabry disease.
Are there other names for Fabry disease?
Yes, there are more names than just the two aforesaid names:
- Galactosidase alpha (GLA) gene deficiency
- Enzyme alpha-galactosidase A deficiency
- Angiokeratoma corporis diffusum
- Angiokeratoma diffuse
- Ceramide trihexosidase deficiency
Are there any types of Fabry diseases?
Two types of Fabry diseases are observed in patients:
- Classic Fabry Disease or Type 1 Fabry Disease (FD)
- Type 2 Fabry Disease (FD)
What are the causes of Anderson-Fabry Disease?
Though it is an inherited disease that passes a mutated gene from a biological parent to his child it can also have a defected GLA gene.
The GLA gene controls the production of a particular enzyme called alpha-galactosidase A. This enzyme is responsible for breaking down a molecule in the cells known as globotriaosylceramide (GL-3).
Inheritance:
The defected gene that transfers in a child is by the type of chromosome that his parents pass at the time of conceiving. In this process fathers pass their defected X chromosome to his daughter and mothers will transfer to her son and daughter both.
Gene mutation:
When the GLA gene is damaged, GL-3 an enzyme breaks down and starts to build up in body’s cells damaging blood vessels and the effects can be seen on:
- Skin
- Nervous system
- Heart
- Kidneys
What are the symptoms of Fabry Diseases?
Following are the symptoms of Fabry Diseases:
- Pain and burning in your hands and feet that get worse with exercise, fever, and hot weather or when you are tired
- Small, dark red spots usually found between your belly button and knees
- Cloudy vision
- Hearing loss
- Ringing in the ears
- Sweating less than normal
- Stomach pain, bowel movements right after eating
- Higher chance of heart attack or stroke serious kidney problems, including kidney failure
- High blood pressure
- Heart failure
- Enlarged heart
- Osteoporosis
What can be the complications of Fabry Diseases?
This disease creates a buildup of fatty acids in blood vessels because of which various organs may get affected:
- The heart
- The brain
- Kidneys
- Liver
This disease can land you to the condition of multiple organs failure or may affect only your kidneys.
How Fabry disease will Affect Kidneys?
Kidneys are solely responsible for filtering the wastes and toxins from the body and the buildup caused by this disease will only be increasing the workload of kidneys.
This increased workload will end up failing the kidneys. Or in simpler words, you may suffer from the End-Stage Renal Disease (ESRD).
What do the kidneys do?
The kidneys’ job role is to filter the blood and maintain a healthy balance of fluids in the body. It also transports the purified blood to the heart and other organs for better functioning.
How to treat Fabry Disease when hit on kidneys?
You can opt for either of the treatments:
- Ayurvedic treatment
- Allopathic treatment
Ayurvedic treatment:
Ayurvedic treatment is a treatment based on the natural methods obtained by nature and its resources. During this time, a low-protein and a low-sodium diet will help you in recovering from the damage done.
Preferably you will be asked to cut out on animal-based protein and will be asked to intake the plant-based protein in a moderate amount.
If you are looking for Ayurvedic treatment for kidney diseases, you can find the best treatment with our one of the best Kidney Expert in UAE Dr. Puneet Dhawan.
Allopathic Treatment:
This type of treatment will only be giving you two solutions:
- Kidney transplant
- Dialysis
Both these types of treatments are just the artificial procedures that will work only on the symptoms or will get your kidney removed and replacing a donor’s kidneys.
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