September 1, 2013 at 5:03 pm #558
I am new to the forum and also new to the diagnosis of Ehler Danlos and POTS. I also “diagnosed” myself and struggled to find a dr, any dr that would listen to me and not brush me off as an “over research hysteric”. I found two doctors about 2 1/2 hours from where I live that finally listened to me. One of the main reasons is because my grandfather died from a ruptured abdominal aneurysm and because my great grandfather lost an eye, my great uncle also lost an eye, and my uncle (same family line) had a serious eye problem and about lost his eye as well.
In all my research, I haven’t found much information on eye ruptures and Ehler Danlos. Has anyone else come across a family history with eye ruptures? I won’t see a geneticists until March of 2014, which is a long time when you are sitting on pins and needles wondering what sub type I have. One of the doctors that finally confirmed I do have Ehler Danlos said he doubted I have the vascular type because I am 46 and haven’t had any serious ruptures (major blood vessels, bowel, etc.). However, there were concerns every time I was pregnant about a uterine rupture. I don’t know why however.
One other question…
I have read about facial characteristics with Ehler Danlos. I am not sure I completly understand exactly what they are.
I guess I am concerned about having the vascular type, and even more so because I have at least 1 child that I think has the Ehler Danlos as well.
Thanks!September 3, 2013 at 6:35 pm #4252
Hi EDSers can all have vascular and organ rupture regardless of type. I have the classical type and so does my mom, aunt, kids ect. My mom has had a complete pelvic prolapse, my aunt had tendons rupture and her retina detach, I suffered a brain bleed and so on. I have never heard of eye ruptures. Do you mean lens subluxation? That can happen in persons with EDS, Marfans, etc. also, common is retina detachment and macular degeneration. I like my family and other EDSers are nearsighted. I also have astigmatism.
ShondaSeptember 3, 2013 at 6:50 pm #4254
My great grandfather and great uncle actually lost their eye. The orbit ruptured. In my never ending research today, I found EDS VI (kyphoscoliosis type) that has been known to have orbit ruptures. It is extremely rare though. I don’t have much medical information about my great grandfather, but I do have a small amount on my great uncle believe it or not. It is a physician evaluation of my great uncle and my grandfather when they entered an orphanage around 1909-1911. The medical terminology is different than today and I would need to research it out. Maybe it would provide some clues.
I have an appointment with a geneticist in March 2014. It is such a long ways away…September 3, 2013 at 7:15 pm #4255
Okay I forgot about type VI. It is very rare only 60 case reported. “Reported” being the key word. I guess it is one of the EDS types that is recessive instead if dominant. Sorry that is taking so long to see a geneticist that is a frustrating thing. It took me a long time too. I have heard that it can take more than a year for some geneticist because there is such a lack of them. One of my moms’s brothers had iritis and said it was very painful. Because of it he was discharged from the army. EDS is no fun. Do you have an O.D. That you can go to first? Preferably one that knows about connective tissue diseases and how they affect the eyes. Dr. Diana also has a book. Look for the link on the home page. Also, her husband has one too. Dr. Richard Driscoll O.D. I forget what it is called, but you can google it. :coolsmile:
ShondaSeptember 3, 2013 at 7:24 pm #4256
I guess the only eye rupture I had ever heard of was as a result of a trauma. I remember a few unlucky patients when I worked at a teaching hospital with it. Things did not end well for them. I remember one who wound up with a nasty fungal infection by an invasive opportunistic mould. She lost both eyes. One to the trauma and one to the mould. It was a very sad case. Were the ones in your relatives Spontaneous?
ShondaSeptember 3, 2013 at 7:44 pm #4257
Yes they were both spontaneous. I know my great grandfather was in a lot of pain right before it ruptured (i guess that would make sense). I didn’t know the same thing happened to my great uncle until recently so I don’t have many details about his eye other than it ruptured.
ShellieSeptember 3, 2013 at 7:50 pm #4258
I have no idea if my great grandfather had EDS or not, but it is a possibility. I wish I had more medical information on him.
I have a really good ophthalmologist I have been seeing for years. She is very willing to learn about EDS. Matter of fact, I printed out the list that Dr. Diana suggested we take to our eye Dr and gave it to my Dr. My Dr. was very excited about it. She wanted to know where I got the information and I told her about this site and about Dr. Diana. She said she was going to check it out. She was very impressed with Dr. Diana’s list and she plans to do all the tests on it.
ShellieSeptember 3, 2013 at 8:15 pm #4259
That is good. It is always good news to have a doctor willing to learn. I found this referring to a lab test that can be orders on a random urine sample. It also describes type 6. I don’t know is this helps or not, but maybe your PCP could order this or you could see a dermatologist for a skin biopsy and maybe they could order the urine test too.
Yellow top conical tube (no additive)
Preferred Minimum: 4 mL first-morning void or random urine
Absolute Minimum: 3 mL first-morning void orrandom urine
Deliver to laboratory immediately after collection.
Turn Around Time:
2 weeks upon receipt at reference laboratory
Age PYR DPYR Ratio DPYR/PYR
0-11 months Not applicable Not applicable 0.13-0.20
1-3 years Not applicable Not applicable 0.18-0.24
4-9 years Not applicable Not applicable 0.19-0.25
10-14 years Not applicable Not applicable 0.17-0.27
15-19 years Not applicable Not applicable 0.20-0.26
20 years and older Not applicable Not applicable 0.23-
Ehlers-Danlos Syndrome (EDS) describes a heterogeneous group of
connective tissue disorders. EDS VI, also known as the kyphoscoliotic
type, is characterized by hyperextensible skin, joint laxity,
progressive scoliosis, severe muscle hypotonia at birth, and ocular
fragility. It is caused by a deficiency of the enzyme lysyl
hydroxylase. Lysyl hydroxylase is encoded by a gene located on
chromosome 1p36.3-p36.2 known as procollagen-lysine, 2-oxoglutarate
5-dioxygenase 1 (PLOD1). This enzyme is essential for the hydroxylation
of lysine residues on collagen. The derived hydroxylysine residues are
the precursors of the most stable crosslinks of collagen, pyridinoline,
The incidence of EDS VI has been estimated at 1 in 100,000 with a
carrier frequency of 1 in 150. It is inherited in an autosomal
recessive manner. Although 20 different mutations have been detected in
the PLOD1 gene, mutation analysis is only being performed on a research
basis. The diagnosis of EDS VI is performed using HPLC to determine the
ratio of deoxypyridinoline to pyridinoline in urine. A markedly
elevated ratio is indicative of the disease. The diagnosis can be
confirmed by enzyme assay in cultured dermal fibroblasts.
Affected fetuses are at risk for premature rupture of membranes and 30
percent have clubfoot. Infants usually present with generalized joint
laxity and muscle hypotonia. Gross milestones, such as walking, may be
delayed. Thoracic scoliosis is common in childhood and often progresses
into the moderate to severe range. All affected individuals have
hyperelastic skin, 60 percent have abnormally thin wide scarring, and
50 percent experience severe bruising. Most affected individuals have
high myopia and microcornea, while a minority have ocular fragility,
glaucoma, or retinal detachment. Frequent joint dislocations can also
pose a serious problem. Adults with severe kyphoscoliosis may develop
frequent pneumonia and restrictive lung disease. Affected individuals
are at increased risk for aortic dilation/dissection, as well as
rupture of medium-sized arteries.
There are no genotypic/phenotypic correlations that have been
determined in the few affected individuals whose mutations have been
determined. Two pathological variants have been observed in more than
one affected family (gene duplication of 7 exons and Y511X). The most
sensitive and specific manner to establish a diagnosis of EDS VI
remains through biochemical testing.
Affected individuals with kyphoscoliosis should be referred for regular
follow-up with an orthopedic surgeon. Older children, adolescents, and
adults can benefit from a physical therapy regimen to strengthen large
muscle groups, particularly the shoulder girdle. They should undergo
routine screening for inguinal hernia.
Routine ophthalmologic examination may be useful for detection and
management of myopia and glaucoma. Referral to a cardiologist for an
echocardiogram for aortic root measurement is recommended every five
years, even if the initial examination is normal. Antimicrobial
prophylaxis for individuals with mitral valve prolapse and aggressive
blood pressure control is critical. Affected individuals may also
benefit from vitamin C (0.5-10 g per day) to improve muscular strength
and wound healing.
This test should be offered to individuals with clinical symptoms
suggesting EDS VI, such as hyperextensible skin, joint hypermobility,
kyphoscoliosis, easy bruisability, or corneal fragility. All siblings
of individuals deemed affected should also be tested, since they are at
25 percent risk for the same disease. Carrier testing cannot be
performed biochemically or by enzyme assay and is not currently
clinically available through PLOD1 mutation analysis. Prenatal
diagnosis is only available through laboratories that perform custom
DNA analysis for couples who have had a previous affected child with
identified mutations. Genetic counseling should be offered to all
affected individuals and their parents.
The HPLC analysis allows the simultaneous quantitation of pyridinoline
and deoxypyridinoline. In patients with EDS VI, the excretion of
deoxypyridinoline is markedly increased. As a result, the
deoxypyridinoline/pyridinoline ratio is also markedly increased (from
0.2 in normal controls to 4-6 in patients with EDS VI) and allows the
diagnosis.September 3, 2013 at 8:29 pm #4260
It is very hard to get much family health history that is accurate pass our grandparents. At least for me and my age group. I have trace EDS to my Grandparents. I see evidence in both sides. Unfortunately, I lack a traceable gene marker. I wish I did to track it in family members, but I guess the symptoms are very obvious. My geneticist had no trouble diagnosing me because I have a very textbook case of Ehlers-Danlos. Unfortunately, my mom and kids have it too. I personally feel that the classical type since it’s autosomal dominant is 100% passed on. It appears that 100% of my mom’s side of family is affected by Ehlers-Danlos syndrome. I am the first one actually diagnosed with EDS. I appear to be the one most affected. I hope it stays that way! My mom does have a severe heart murmur and she’s going to cardiologist next week for an echo. We will see what they come up with. Her cardiologist at least knows about Ehlers-Danlos syndrome. This week we are taking the kids to the pedi to inform him of my diagnosis. I was waiting to see if I had the vascular form along with the classical form since both my grandparents appeared to had Ehlers-Danlos.
ShondaSeptember 3, 2013 at 8:44 pm #4262
Whoops, now I see your post on your eye doctor in Colorado. Glad she is a good one. That is one less doctor to find. Where do you live in Colorado? I was born in Greeley.
ShondaSeptember 6, 2013 at 12:51 pm #4295
I live close to Canon City which is way south from Greeley. We are about 2 1/2 hrs from Denver. I have a good friend who lives in Greeley.September 6, 2013 at 3:37 pm #4299
We still have family in Longmont and friends in both Denver and Boulder , but are unable to travel anymore with all my health problems. When I was a kid it was my dream to move back to Colorado and have a horse ranch. Oh how things change. 8-/
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