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What is the prevalence of Arterial Tortuosity Syndrome?

How many people does Arterial Tortuosity Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of Arterial Tortuosity Syndrome

The prevalence of Arterial Tortuosity Syndrome (ATS) is currently unknown due to its rarity and underdiagnosis. ATS is an extremely rare genetic disorder characterized by abnormal twisting and elongation of the arteries throughout the body. It affects multiple organ systems and can lead to various complications. The condition is believed to be autosomal recessive, meaning both parents must carry the gene mutation for a child to be affected. Due to its rarity, more research and awareness are needed to determine the true prevalence of ATS.



Arterial Tortuosity Syndrome (ATS) is a rare genetic disorder characterized by abnormal twisting and elongation of the arteries throughout the body. It is an autosomal recessive condition, meaning that both parents must carry a mutated gene for their child to be affected.


The prevalence of ATS is extremely low, making it a rare disorder. Exact figures regarding the prevalence of ATS are not readily available due to its rarity and the limited number of reported cases. However, it is estimated that the prevalence of ATS is less than 1 in 1,000,000 individuals worldwide.


ATS can affect various organs and systems in the body, including the cardiovascular system, skin, and connective tissues. Symptoms of ATS can vary widely, but commonly include cardiovascular abnormalities, such as tortuous (twisted) arteries, aneurysms, and stenosis. Other features may include joint hypermobility, skin hyperextensibility, and facial abnormalities.


Due to its rarity, ATS often goes undiagnosed or misdiagnosed, leading to challenges in understanding its true prevalence. Further research and awareness are needed to improve the identification and management of individuals with ATS.


Diseasemaps
2 answers
There are about 20-30 ATS patients in the U.S. and an estimation of 100 worldwide. We know these numbers will increase with proper genetic diagnosis, not just a clinical diagnosis, and more medical knowledge and understanding.

Posted Mar 10, 2018 by Andrea Taylor 2500

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