Sign-in to Ask A Doctor - 24x7
OR
Sign in with Google
What Are The Symptoms Of Vascular Type Of EDS?
Question: what kind of episodes would my mother at age 51 would have had with EDS vascular?
she thinks she has it cause she bruses and bleeds easy.
and her thumbs can move in funny ways.
please let up know soon thank you.
she thinks she has it cause she bruses and bleeds easy.
and her thumbs can move in funny ways.
please let up know soon thank you.
Brief Answer:
Vascular type EDS is an extremely rare condition
Detailed Answer:
Hi
Welcome to the HCM
I understand your concerns but don't worry. The vascular type of EDS is a very rare condition (incidence 1:50,000-1:100000). Also, the condition is the most severe variant of EDS and most of the affected patients have a major bleed (abdominal, intestinal or uterine ) requiring surgery by 25 years of age. Since it's an autosomal dominant disorder in 50% cases, so a family history is major clue to diagnosis.
As per your question, your mother has just 2 conditions similar to EDS I.e. Easy bruising and hypermobility of thumb. So, it's very unlikely that she actually has vascular form of EDS.
In case she is doubtful about the condition, I would recommend you to go for molecular genetic testing to rule out the condition completely.
Hopefully this will help you. I would be happy to help you in any further questions.
Take care
Vascular type EDS is an extremely rare condition
Detailed Answer:
Hi
Welcome to the HCM
I understand your concerns but don't worry. The vascular type of EDS is a very rare condition (incidence 1:50,000-1:100000). Also, the condition is the most severe variant of EDS and most of the affected patients have a major bleed (abdominal, intestinal or uterine ) requiring surgery by 25 years of age. Since it's an autosomal dominant disorder in 50% cases, so a family history is major clue to diagnosis.
As per your question, your mother has just 2 conditions similar to EDS I.e. Easy bruising and hypermobility of thumb. So, it's very unlikely that she actually has vascular form of EDS.
In case she is doubtful about the condition, I would recommend you to go for molecular genetic testing to rule out the condition completely.
Hopefully this will help you. I would be happy to help you in any further questions.
Take care
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
what other symptoms are vascular EDS?
what about her bleeding?
does it cause acid problems in the gut?
swollen acidy colon.
what about her bleeding?
does it cause acid problems in the gut?
swollen acidy colon.
Brief Answer:
There are many symptoms associated with vascular EDS
Detailed Answer:
Hi
The skin of affected individual is usually thin and translucent with veins being seen through the skin, which is most apparent over the chest and abdomen. There are certain facial characteristics present in some affected individuals. These manifestations include large eyes, thin nose, lobeless ears, short stature and thin scalp hair. Also evident is a decrease in subcutaneous tissue, particularly in the face and extremities. Minor trauma can lead to extensive bruising.
Arterial/intestinal/uterine fragility or rupture commonly arise in this type of EDS. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life, but may occur earlier. Midsize arteries are commonly involved. Arterial rupture is the most common cause of sudden death. Acute diffuse or localized abdominal or flank pain is a common presentation of arterial or intestinal rupture. Abdominal bleeds are associated with blood in stools which can be XXXXXXX red or black tarry. Since the bleeding is severe, so it's not just gastritis type pain. Life expectancy is shortened with a majority of individuals living only into their forties without any intervention.
Joint hypermobility is usually limited to the digits. Other manifestations that may be found in the Vascular Type include: acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; arteriovenous fistula (an opening between an artery and vein), carotid-cavernous fistula; pneumothorax (collapse of a lung) /pneumohemothorax (collapse of a lung with a collection of air or gas and blood); gingival recession and complications during and after surgery (i.e. wound dehiscence).
Any bruising tendency should be evaluated by hemostasis tests like platelet counts and function, bleeding and clotting time, PT and aPTT and clotting factors. For severe gastritis episodes, you may evaluate for H. Pylori and peptic ulcers.
Hopefully this will help you.
Take care
There are many symptoms associated with vascular EDS
Detailed Answer:
Hi
The skin of affected individual is usually thin and translucent with veins being seen through the skin, which is most apparent over the chest and abdomen. There are certain facial characteristics present in some affected individuals. These manifestations include large eyes, thin nose, lobeless ears, short stature and thin scalp hair. Also evident is a decrease in subcutaneous tissue, particularly in the face and extremities. Minor trauma can lead to extensive bruising.
Arterial/intestinal/uterine fragility or rupture commonly arise in this type of EDS. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life, but may occur earlier. Midsize arteries are commonly involved. Arterial rupture is the most common cause of sudden death. Acute diffuse or localized abdominal or flank pain is a common presentation of arterial or intestinal rupture. Abdominal bleeds are associated with blood in stools which can be XXXXXXX red or black tarry. Since the bleeding is severe, so it's not just gastritis type pain. Life expectancy is shortened with a majority of individuals living only into their forties without any intervention.
Joint hypermobility is usually limited to the digits. Other manifestations that may be found in the Vascular Type include: acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; arteriovenous fistula (an opening between an artery and vein), carotid-cavernous fistula; pneumothorax (collapse of a lung) /pneumohemothorax (collapse of a lung with a collection of air or gas and blood); gingival recession and complications during and after surgery (i.e. wound dehiscence).
Any bruising tendency should be evaluated by hemostasis tests like platelet counts and function, bleeding and clotting time, PT and aPTT and clotting factors. For severe gastritis episodes, you may evaluate for H. Pylori and peptic ulcers.
Hopefully this will help you.
Take care
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
she weighs 85 pounds we would see her veins on her chest but not very dark.
when she weighs more and not so anemic i don't see the veins.
shes been to genetics places like in san francisco and i don't think they did blood test on her but they have seen her and also a place in chico, california years ago.
if she has EDS type 4 then why did they not see it??
oh, and her PTT is high sometimes and then other times it's normal and her INR is always normal. but i read that these test don't matter with EDS type 4.
she is 51. she has never torn her tendons and her muscles.
never had any pains in her body. so part of the EDS type 4 looks like what she has but then the other part says she does not have.
she does not have any facial features of it at all and her hair is thick.
we have many many relatives and none of them has this neather does her mother or her father.
forgot to say this, she has had four wisdom teeth removed and three did not bleed a drop but the other one bled badly.
tonsisls she bled badly but one nose surgery and not one drop of blood but the other nose surgery alot of blood.
no blood when she gave birth to me only when the doctor cut her deep down there and had to give her lots of blood and sew her up.
but vaginally no blood. she does not always bruise sometimes when she runs to a wall or courner hard not one mark on her.
right not she does not have one bruise on her.
when she weighs more and not so anemic i don't see the veins.
shes been to genetics places like in san francisco and i don't think they did blood test on her but they have seen her and also a place in chico, california years ago.
if she has EDS type 4 then why did they not see it??
oh, and her PTT is high sometimes and then other times it's normal and her INR is always normal. but i read that these test don't matter with EDS type 4.
she is 51. she has never torn her tendons and her muscles.
never had any pains in her body. so part of the EDS type 4 looks like what she has but then the other part says she does not have.
she does not have any facial features of it at all and her hair is thick.
we have many many relatives and none of them has this neather does her mother or her father.
forgot to say this, she has had four wisdom teeth removed and three did not bleed a drop but the other one bled badly.
tonsisls she bled badly but one nose surgery and not one drop of blood but the other nose surgery alot of blood.
no blood when she gave birth to me only when the doctor cut her deep down there and had to give her lots of blood and sew her up.
but vaginally no blood. she does not always bruise sometimes when she runs to a wall or courner hard not one mark on her.
right not she does not have one bruise on her.
Brief Answer:
Vascular EDS is highly unlikely
Detailed Answer:
Hi
Thanks for the details you have provided.
After going through the information, I am pretty sure that your mother is highly unlikely to be suffering from vascular EDS.
She seems to have a low body weight. Body mass index is a better way but I need her height for that. I would recommend a good balanced regular diet along with plenty of fluids. You may offer small quantities more frequently if she has gastritis. Drugs like Pantoprazole or Omeprazole are useful for gastritis.
If gastric pain is severe, then go for gastroenterologist checkup to rule out peptic ulcer.
Hopefully this will help you.
Take care
Vascular EDS is highly unlikely
Detailed Answer:
Hi
Thanks for the details you have provided.
After going through the information, I am pretty sure that your mother is highly unlikely to be suffering from vascular EDS.
She seems to have a low body weight. Body mass index is a better way but I need her height for that. I would recommend a good balanced regular diet along with plenty of fluids. You may offer small quantities more frequently if she has gastritis. Drugs like Pantoprazole or Omeprazole are useful for gastritis.
If gastric pain is severe, then go for gastroenterologist checkup to rule out peptic ulcer.
Hopefully this will help you.
Take care
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
she started to have stomach problems and lost weight three years ago.
she had her tonsiles done at age 5, she was not having stomach problems and weight loss then. the nose and teeth she was not having stomach problems as teenager. just bleeding and bruising all her life.
just three years ago starting to have stomach problems and lost weight because of her stomach issues.
shes try PPIs and H2 blockers don't help.
gut gets dry inside bad.
she drinks 13 bottles water everyday.
she is almost 5.6 height.
again did not have any problems of her stomach years ago during bruising and bleeding problems.
you still don't believe she has vascular EDS??
what about the PTT test i told you she got taking?
she had her tonsiles done at age 5, she was not having stomach problems and weight loss then. the nose and teeth she was not having stomach problems as teenager. just bleeding and bruising all her life.
just three years ago starting to have stomach problems and lost weight because of her stomach issues.
shes try PPIs and H2 blockers don't help.
gut gets dry inside bad.
she drinks 13 bottles water everyday.
she is almost 5.6 height.
again did not have any problems of her stomach years ago during bruising and bleeding problems.
you still don't believe she has vascular EDS??
what about the PTT test i told you she got taking?
Brief Answer:
Vascular EDS is unlikely but can be completely ruled out only by testing
Detailed Answer:
As I said earlier, the vascular EDS is unlikely as per clinical symptoms but can be completely ruled out only after a proper molecular genetic testing.
PTT which is high sometimes and normal at other times is unlikely due to any genetic abnormality affecting clotting cascade. It can happen due to antibiotic usage during the period of testing.
Her bruising tendency needs laboratory tests for platelet counts and function as well.
Her gastrointestinal problems definitely needs complete evaluation as it has lead to severe weight loss. I would recommend you to visit a gastroenterologist for complete evaluation including ultrasound abdomen and endoscopy if required for definitive treatment.
Hopefully this will be helpful.
Take care
Vascular EDS is unlikely but can be completely ruled out only by testing
Detailed Answer:
As I said earlier, the vascular EDS is unlikely as per clinical symptoms but can be completely ruled out only after a proper molecular genetic testing.
PTT which is high sometimes and normal at other times is unlikely due to any genetic abnormality affecting clotting cascade. It can happen due to antibiotic usage during the period of testing.
Her bruising tendency needs laboratory tests for platelet counts and function as well.
Her gastrointestinal problems definitely needs complete evaluation as it has lead to severe weight loss. I would recommend you to visit a gastroenterologist for complete evaluation including ultrasound abdomen and endoscopy if required for definitive treatment.
Hopefully this will be helpful.
Take care
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
but i bruise and bleed easy. i had a tooth pulled at age 6 and bled bad and they had to stop it.
she was not taking antibiotics during the PTT test.
she was not taking antibiotics during the PTT test.
Brief Answer:
Complete clinical examination and laboratory work up needed
Detailed Answer:
Hi
There are many conditions such as clotting factor deficiencies, platelet dysfunctions, autoimmune diseases, and others which may lead to easy bruising and prolonged PTT. I would strongly recommend a complete clinical examination including gastroenterologist visit and laboratory work up which I had suggested earlier to come to a definitive diagnosis. Once the diagnosis is established she can get a proper treatment which will help her regain her normal health and lifestyle.
Take care
Complete clinical examination and laboratory work up needed
Detailed Answer:
Hi
There are many conditions such as clotting factor deficiencies, platelet dysfunctions, autoimmune diseases, and others which may lead to easy bruising and prolonged PTT. I would strongly recommend a complete clinical examination including gastroenterologist visit and laboratory work up which I had suggested earlier to come to a definitive diagnosis. Once the diagnosis is established she can get a proper treatment which will help her regain her normal health and lifestyle.
Take care
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Answered by
Get personalised answers from verified doctor in minutes across 80+ specialties
