Get your health question answered instantly from our pool of 18000+ doctors from over 80 specialties

197 Doctors Online
Doctor Image
Dr. Andrew Rynne

Family Physician

Exp 50 years

I will be looking into your question and guiding you through the process. Please write your question below.

Suggest treatment for Ehlers–Danlos syndrome

Answered by
Dr. Rishu Saxena


Practicing since :2012

Answered : 696 Questions

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).
Answered by Dr. Rishu Saxena 26 minutes later
Brief Answer:
Genetic testing

Detailed Answer:
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.
Above answer was peer-reviewed by : Dr. Kampana

The User accepted the expert's answer

Share on
Question is related to
Diseases and Conditions
Medical Topics

Recent questions on  Hereditary hemorrhagic telangiectasia

doctor1 MD

my niece has been experiencing chest pain, tingling in her lips and right hand, and pain in her right arm, she has a downward t wave on her ekg. she has a history of hht, a genetic disorder, which causes her to form avms. any ideas what could be causing her symptoms?

doctor1 MD

Hi! I'm a 37 year old female, for some time now, I've been waking up to a sharp pain in the back of my head, I get dizzy very easily, and am nautcious some times. I have been putting off getting an MRI to check if I have the same disease that my...

doctor1 MD

My sister and uncleboth died of pulmonary hypertension. Now family members tell me the correct diagnosis was HHT. My sister was 40 when she died. Although no one seems to have symptoms should my family and my sisters also be tested? I have gingivitis and have my teeth cleaned every 3 months. These past few weeks i think my gums are inflammed. i have had some headaches, been dizzy and not feeling well in general. What should I do?

doctor1 MD

Hi my sister has been diagnosed of hht...I would like to know more about this disease