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Dr. Andrew Rynne

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Suggest treatment for Ehlers–Danlos syndrome

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Dr. Rishu Saxena

Cardiologist

Practicing since :2012

Answered : 696 Questions

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Posted on Mon, 13 Mar 2017 in Genetics
Question: Years ago I was diagnosed with ehlers danlos syndrome (before the blood testing was available). Would it be beneficial to have the blood test done, even though it only detects 4 of the 6 types. Should I also be tested for HHT (I do have the red polka dots that look giant pettichae).
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Answered by Dr. Rishu Saxena 26 minutes later
Brief Answer:
Genetic testing

Detailed Answer:
Hi
Thanks for choosing HealthcareMagic.
The diagnosis of EDS, is mainly based on clinical evaluation and family history.In EDS, the gene(s) in which mutation is causative are unknown and unmapped. Vascular EDS is an autosomal dominant condition that results from mutations in type III procollagen; Most of the mutations are in the COL3A1 gene.Genetic testing can be used to diagnose it.I don't think blood tests will help you.
For Hereditary Hemorrhagic Telangiectasia Genetic testing can be performed, but not every genetic mutation for HHT has been identified; therefore, some cases of HHT cannot be detected with current laboratory testing.
Thanks.
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