Fabry Disease, Causes, Signs and Symptoms, Diagnosis and Treatment.

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Chapters
0:00 Introduction
1:03 Causes of Fabry Disease
2:32 Syptoms of Fabry Disease
2:14 Diagnosis of Fabry Disease
3:44 Treatment of Fabry Disease
Fabry disease, also known as Anderson-Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, and skin.[1] Fabry disease is one of a group of conditions known as lysosomal storage diseases. The genetic mutation that causes Fabry disease interferes with the function of an enzyme that processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organs. It is inherited in an X-linked manner.
Fabry disease is sometimes diagnosed using a blood test that measures the activity of the affected enzyme called alpha-galactosidase, but genetic testing is also sometimes used, particularly in females.
The treatment for Fabry disease varies depending on the organs affected by the condition, and the underlying cause can be addressed by replacing the enzyme that is lacking.
The first descriptions of the condition were made simultaneously by dermatologist Johannes Fabry[2] and the surgeon William Anderson[3] in 1898.[4]

[@annette7605]

Females are not just carriers! I HAVE Fabry as well as my daughter and son, we all have symptoms and are receiving treatment.

[@kur0tsuki842]

Me and my sister too 😅

[@leed3496]

I have it to and my mum i only found out two years ago but had symptoms all my life . Burning pains in my hands and feet are the pain thing for me and joint pain

[@kur0tsuki842]

until I was 10 years old, I thought that everyone had these pains and my mother lost her symptoms during pregnancy this is my last hope :D@@leed3496

[@norhani382]

Nice video and easier to understand .

[@nuramirahbalqiszulkefli1197]

Very informative video 👍👍

[@nurulizyan3210]

Nice👍👍

[@suhaidahyusri4670]

Wow first time hearing this disease

[@bedilubegashaw51]

Nice!!
Please do video on NCLEX most tested tips

[@anthonybenccivenga8819]

I hate my infusions