Hughes syndrome - misdiagnosed as MS

[Amir]

I wonder if any of you have read this article:
Hughes Syndrome - Misdiagnosed as MS

I was told I had MS - but the doctors were wrong

Jeremiah Johnston-Sheehan, a successful architect, was devastated when told he had multiple sclerosis.

But four years later, he discovered that he had been misdiagnosed.

In fact, he suffered from a treatable condition called Hughes syndrome. Recent research shows there could be thousands of people like him who have wrongly been told they have MS.

http://www.dailymail.co.uk/health/artic ... wrong.html

[Cece]

They say 5% of people with MS are actually misdiagnosed. That's a lot of people, considering how many people are diagnosed with MS.
I learned about Hughes Syndrome here at TiMS. http://www.thisisms.com/forum/chronic-c ... 15537.html

[frodo]

They say 5% of people with MS are actually misdiagnosed. That's a lot of people, considering how many people are diagnosed with MS.
I learned about Hughes Syndrome here at TiMS. http://www.thisisms.com/forum/chronic-c ... 15537.html

I don't know how things work in the USA, but here in Europe normally is possible to request a new doctor and a second diagnosis if we suspect that the first one was incomplete.

There are also protocols for diagnosis that are normally ignored by practitioners (they are slow and expensive), but the patient has the right to request a complete protocol.

[NHE]

I don't know how things work in the USA, but here in Europe normally is possible to request a new doctor and a second diagnosis if we suspect that the first one was incomplete.

Yes, getting a 2nd opinion is allowed by US insurance.

[cheerleader]

I don't know how things work in the USA, but here in Europe normally is possible to request a new doctor and a second diagnosis if we suspect that the first one was incomplete.

Yes, getting a 2nd opinion is allowed by US insurance.

That said, we had to pay for Jeff's APS (anti-phospholipid antibody/Hughes syndrome) test in California---because his primary care doctor did not believe it was necessary. It was worth it to us to pay out of pocket for his IGENEX Lyme testing, APS blood test, to rule our differential diagnoses.
He was negative for both.
cheer

[1eye]

I don't know how things work in the USA, but here in Europe normally is possible to request a new doctor and a second diagnosis if we suspect that the first one was incomplete.

Yes, getting a 2nd opinion is allowed by US insurance.

That said, we had to pay for Jeff's APS (anti-phospholipid antibody/Hughes syndrome) test in California---because his primary care doctor did not believe it was necessary. It was worth it to us to pay out of pocket for his IGENEX Lyme testing, APS blood test, to rule our differential diagnoses.
He was negative for both.
cheer

If you don't mind my asking, could you give us a ballpark estimate of the cost of that? I recently found a tick in my nose. I still have the little beggar.

BTW second opinions around these parts are a joke. Your first is your only diagnosis: "MS" Simple to arrange over the telephone.

[DrDiana]

Hi all, Although not on the forum much, please know that I am working like crazy behind the scenes! I popped on for one reason, but then saw this post, so I digress for a moment.

When studying the fundus of patients' eyes, some folks sent me photos (the best were electronic), but one set, even though the images were lousy, screamed "Hughes Syndrome"! This is an appearance that once you see (as an eye doctor), you never forget. The vessels turn a pretty salmon, pink color. I questioned the patient, and indeed, she had a STRONG history of thrombosis.

So, interestingly, a good look at your fundus (or even a cursory look by a GOOD eye doctor -- ha) is a decent diagnostic tool. I would like to see everyone diagnosed long before it shows up in the eyes, though!

OK, enough with the 'fun facts'...
;)

[Cece]

When studying the fundus of patients' eyes, some folks sent me photos (the best were electronic), but one set, even though the images were lousy, screamed "Hughes Syndrome"! This is an appearance that once you see (as an eye doctor), you never forget. The vessels turn a pretty salmon, pink color. I questioned the patient, and indeed, she had a STRONG history of thrombosis.

So this is a patient who, with proper treatment for Hughes, gets to escape the symptoms and the MS diagnosis. Amazing.

[DrDiana]

When studying the fundus of patients' eyes, some folks sent me photos (the best were electronic), but one set, even though the images were lousy, screamed "Hughes Syndrome"! This is an appearance that once you see (as an eye doctor), you never forget. The vessels turn a pretty salmon, pink color. I questioned the patient, and indeed, she had a STRONG history of thrombosis.

So this is a patient who, with proper treatment for Hughes, gets to escape the symptoms and the MS diagnosis. Amazing.

Hi Cece, Just to clarify, this patient did not develop M.S., true, but she had a connective tissue disorder and suffered numerous strokes, heart attack, etc. She only received testing (amazingly -- even with that history?!) after I saw Hughes Syndrome. We will never know if she would have developed M.S. had she not been treated at that point. Point (I guess numerous points!) include - eye exams can and should be part of our care (with a good doctor!) - Hughes is found in connective tissue disorders (in addition to M.S.), and I'd throw in that we should all be proactive in reporting (and treating, IMHO) signs/symptoms of thrombosis, Hughes, etc.

Personally, I did not want to wait for a massive stroke to "prove my point" (that we are prone to thrombosis). I went on a mild blood thinner years ago when I suffered cognitive decline. My geneticist called in the Rx for me, but I remember her saying, "What the H E Double L do you want a blood thinner for?!" ha. Overnight and dramatic response. I'm so glad I didn't wait for the OFFICIAL diagnosis of Hughes, DIC, stroke, etc... I am studying a new marker that may give us a "heads up" in advance, so we can treat this EARLY. I truly believed it saved my life, but obviously, we don't want to take blood thinners for no reason, and instead, experience bleeds. I'm on a mission!

Take home message: be sure you know the symptoms/signs of even microthrombosis, and never underestimate the power of a good eye doctor in your systemic care. ;)