I ended my last post having had a lot of problems, searching for a specialist and having done a ton of research. What I found in my research: Wegener’s Granulomatosis (gran-YOU-low-ma-toe-sis) is named for a German pathologist who first described the disease in the 1930’s, but Wegener’s Granulomatosis wasn’t widely used as a name of the disease until 1954. Granulomatosis refers to the granulomas, or collections of immune system cells, that can occur in the body’s attempt to wall off what it perceives to be an infection.
As you will recall, I stated that the prominent sign of Vasculitis is inflammation of the blood vessels. In Wegener’s, the small and medium blood vessels are affected. It is not contagious (although a person might have a secondary infection that is contagious). It is a fairly rare disease. Depending on what you read anywhere between 1 in 20,000 and 3 in 100,000 people are affected. The incidences are rising, but I think that might be due to the fact that more cases are actually recognized as Wegener’s. Anyone at any age can get it, but it’s most common from middle age onward and slightly more prevalent in men than women. There is no indication that it is hereditary, but research is currently being done on that subject.
Wegener’s can manifest in nearly every place in the body, but is most commonly seen in the upper respiratory system (sinuses and nose), lungs, trachea, eyes, ears, skin, joints and kidneys. Up until the 1970’s, Wegener’s was almost always fatal. Now with certain medications, the progression of the disease can be slowed and many times put into remission.
Signs and symptoms of Wegener’s vary widely, as it affects so many areas. Frequent sinus infections, or infections that won’t go away despite several rounds of antibiotics, are one sign. Frequent ear infections are another. Many people get a scratchy, hoarse throat, sometimes due to the extra post-nasal drip, but may also be due to a narrowing of the trachea. Chest pain, tightness and difficulty breathing may be a sign Wegener’s has gone into the lungs. The problem is that all of these are symptoms of other things, which makes it very hard to diagnose Wegener’s.
A less common sign of Wegener’s is a perforated septum, which means a hole has formed in the cartilage that separates the two nostrils. Generally, this would be caused by the death of tissue due to lack of blood flow to the area, because of the inflammation of the blood vessels. The loss of cartilage in that area can cause a saddle nose deformity, which means the nose, from where the bone stops (Feel the bridge of your nose. The bone ends and the cartilage begins about halfway down.) collapses. For some reason, this has scared me more than anything else, perhaps because it’s one of the only visible signs of Wegener’s. Probably it’s a vanity thing, too. The hole in my septum can be fixed (and so can saddle nose deformity) but not until the disease is in remission, otherwise the hole would probably just open up again.
Some people never have sinus problems, but instead the disease attacks their trachea and lungs, or their skin, making red and purple pustules and rashes. I know of two other people in my area (although I haven’t met them) with Wegener’s. One has had the most trouble with her trachea and has had to have it stretched several times. I think they can only stretch a trachea so many times and then I don’t know what they would do. The other person lives near my mother and was recently hospitalized for kidney problems. Her Wegener’s appears to be more advanced than mine.
There are few tests to diagnose Wegener’s and none of them are fool proof. The first test most doctors are likely to perform if they suspect Wegener’s is an ANCA test, because that is less invasive. An ANCA test is a simple blood test which looks for the presence of a certain antibody which is often found in the blood of Wegener’s patients. The problem is that a negative test does not mean that one does not have the disease. There are many patients with Wegener’s and negative ANCA tests. This may be because there are only a few ANCA antibodies and are hard to see or it may be because the lab or technician is not familiar with Wegener’s enough to recognize the antibodies. Unfortunately, many physicians stop at a negative ANCA test and do not pursue any further. A positive ANCA test, on the other hand, almost always indicates some level of Wegener’s. My first ANCA test was negative. (It wasn’t until about six months later that I had a positive ANCA test, after my blood was sent to a lab that was more familiar with the test.) At that point, the ENT suggested a biopsy of the nasal tissue, which usually will show the characteristic granulomas that appear with Wegener’s and differentiate it from other Vasculitis diseases, such as Sarcoidosis. Mine was negative. False negatives in biopsies (especially nasal) are common in Wegener’s.
Other tests include cat scans and MRIs of affected areas, but they are also not fool proof. Spots on the lungs can appear to the pneumonia. Biopsies of affected tissue are often performed, looking for the granulomas that are frequent in Wegener’s. Often diagnosis is made by a physician even after all of the above tests are negative.
That was what finally happened in my case. My primary care physican agreed to set me up with a specialist in Wegener’s. There is a list of them on the Vasculitis Foundation website. There are only a few in the country, all at teaching hospitals, such as Boston University, Johns Hopkins and the Mayo Clinic. My doctor’s office can be slow in scheduling referrals, so I took it upon myself to email the head of the Rheumatology Department at Boston University Medical Center. Much to my surprised, he responded the next day – which was a Sunday. I had described my symptoms and history and had outlined all the tests I had had thus far. He was very nice and said I should call his office the next day to schedule an appointment.
I did and finally saw Dr. Paul Monach, who is an absolutely wonderful doctor. He spent at least an hour with me on my first visit. He had already read my records and told me right up front that I had Wegener’s, no matter what all the tests said. Apparently my case is pretty classic. He was also very encouraging, saying he was confident that we could get the disease under control. He suggested treatment, but also listed to my thoughts and ideas. He answered all of my questions and not once did I ever feel rushed. I now see him every couple of months. The drive to Boston is worth it to see someone who is familiar with Wegener’s. He also is the head of their clinical trials and so is up to date on newer studies and treatments.
My case shows that it is very important to be your own advocate. You know your body better than anyone else. I knew something wasn’t right, and wanted an opinion of someone who was familiar with Vasculitis. I really wasn’t expecting to be diagnosed with Wegener’s. Strange and rare diseases are things you read about or see on the news, not something that happens to you. But I’m thankful for the diagnosis. I don’t mean to say I’m happy to have a rare and sometimes debilitating disease, but I am happy to know what it is so I can meet it head on.
Next time I will discuss my treatment and living with Wegener’s.
An interesting sideline: Dr. Friedrich Wegener, at least at one point in his career, worked for the Nazi regime in Germany and Poland. The conclusion of a very interesting article outlining the research of two doctors at the Mayo Clinic, describes the views of many people regarding Dr. Wegener:
As you will recall, I stated that the prominent sign of Vasculitis is inflammation of the blood vessels. In Wegener’s, the small and medium blood vessels are affected. It is not contagious (although a person might have a secondary infection that is contagious). It is a fairly rare disease. Depending on what you read anywhere between 1 in 20,000 and 3 in 100,000 people are affected. The incidences are rising, but I think that might be due to the fact that more cases are actually recognized as Wegener’s. Anyone at any age can get it, but it’s most common from middle age onward and slightly more prevalent in men than women. There is no indication that it is hereditary, but research is currently being done on that subject.
Wegener’s can manifest in nearly every place in the body, but is most commonly seen in the upper respiratory system (sinuses and nose), lungs, trachea, eyes, ears, skin, joints and kidneys. Up until the 1970’s, Wegener’s was almost always fatal. Now with certain medications, the progression of the disease can be slowed and many times put into remission.
Signs and symptoms of Wegener’s vary widely, as it affects so many areas. Frequent sinus infections, or infections that won’t go away despite several rounds of antibiotics, are one sign. Frequent ear infections are another. Many people get a scratchy, hoarse throat, sometimes due to the extra post-nasal drip, but may also be due to a narrowing of the trachea. Chest pain, tightness and difficulty breathing may be a sign Wegener’s has gone into the lungs. The problem is that all of these are symptoms of other things, which makes it very hard to diagnose Wegener’s.
A less common sign of Wegener’s is a perforated septum, which means a hole has formed in the cartilage that separates the two nostrils. Generally, this would be caused by the death of tissue due to lack of blood flow to the area, because of the inflammation of the blood vessels. The loss of cartilage in that area can cause a saddle nose deformity, which means the nose, from where the bone stops (Feel the bridge of your nose. The bone ends and the cartilage begins about halfway down.) collapses. For some reason, this has scared me more than anything else, perhaps because it’s one of the only visible signs of Wegener’s. Probably it’s a vanity thing, too. The hole in my septum can be fixed (and so can saddle nose deformity) but not until the disease is in remission, otherwise the hole would probably just open up again.
Some people never have sinus problems, but instead the disease attacks their trachea and lungs, or their skin, making red and purple pustules and rashes. I know of two other people in my area (although I haven’t met them) with Wegener’s. One has had the most trouble with her trachea and has had to have it stretched several times. I think they can only stretch a trachea so many times and then I don’t know what they would do. The other person lives near my mother and was recently hospitalized for kidney problems. Her Wegener’s appears to be more advanced than mine.
There are few tests to diagnose Wegener’s and none of them are fool proof. The first test most doctors are likely to perform if they suspect Wegener’s is an ANCA test, because that is less invasive. An ANCA test is a simple blood test which looks for the presence of a certain antibody which is often found in the blood of Wegener’s patients. The problem is that a negative test does not mean that one does not have the disease. There are many patients with Wegener’s and negative ANCA tests. This may be because there are only a few ANCA antibodies and are hard to see or it may be because the lab or technician is not familiar with Wegener’s enough to recognize the antibodies. Unfortunately, many physicians stop at a negative ANCA test and do not pursue any further. A positive ANCA test, on the other hand, almost always indicates some level of Wegener’s. My first ANCA test was negative. (It wasn’t until about six months later that I had a positive ANCA test, after my blood was sent to a lab that was more familiar with the test.) At that point, the ENT suggested a biopsy of the nasal tissue, which usually will show the characteristic granulomas that appear with Wegener’s and differentiate it from other Vasculitis diseases, such as Sarcoidosis. Mine was negative. False negatives in biopsies (especially nasal) are common in Wegener’s.
Other tests include cat scans and MRIs of affected areas, but they are also not fool proof. Spots on the lungs can appear to the pneumonia. Biopsies of affected tissue are often performed, looking for the granulomas that are frequent in Wegener’s. Often diagnosis is made by a physician even after all of the above tests are negative.
That was what finally happened in my case. My primary care physican agreed to set me up with a specialist in Wegener’s. There is a list of them on the Vasculitis Foundation website. There are only a few in the country, all at teaching hospitals, such as Boston University, Johns Hopkins and the Mayo Clinic. My doctor’s office can be slow in scheduling referrals, so I took it upon myself to email the head of the Rheumatology Department at Boston University Medical Center. Much to my surprised, he responded the next day – which was a Sunday. I had described my symptoms and history and had outlined all the tests I had had thus far. He was very nice and said I should call his office the next day to schedule an appointment.
I did and finally saw Dr. Paul Monach, who is an absolutely wonderful doctor. He spent at least an hour with me on my first visit. He had already read my records and told me right up front that I had Wegener’s, no matter what all the tests said. Apparently my case is pretty classic. He was also very encouraging, saying he was confident that we could get the disease under control. He suggested treatment, but also listed to my thoughts and ideas. He answered all of my questions and not once did I ever feel rushed. I now see him every couple of months. The drive to Boston is worth it to see someone who is familiar with Wegener’s. He also is the head of their clinical trials and so is up to date on newer studies and treatments.
My case shows that it is very important to be your own advocate. You know your body better than anyone else. I knew something wasn’t right, and wanted an opinion of someone who was familiar with Vasculitis. I really wasn’t expecting to be diagnosed with Wegener’s. Strange and rare diseases are things you read about or see on the news, not something that happens to you. But I’m thankful for the diagnosis. I don’t mean to say I’m happy to have a rare and sometimes debilitating disease, but I am happy to know what it is so I can meet it head on.
Next time I will discuss my treatment and living with Wegener’s.
An interesting sideline: Dr. Friedrich Wegener, at least at one point in his career, worked for the Nazi regime in Germany and Poland. The conclusion of a very interesting article outlining the research of two doctors at the Mayo Clinic, describes the views of many people regarding Dr. Wegener:
The role of physicians during the Nazi regime has been highlighted previously [20, 21]. The facts we have uncovered do not prove Dr Friedrich Wegener guilty of war crimes. However, the evidence suggests that Dr Wegener was, at least at some point of his career, a follower of the Nazi regime. Dr Wegener’s mentor, Martin Staemmler, was an ardent supporter of the racial hygiene. In addition, our data indicate that Dr Wegener was wanted by Polish authorities and that his files were forwarded to the United Nations War Crimes Commission. Finally, Dr Wegener worked in close proximity to the genocide machinery in Lodz. His interest in air embolism is also troubling. Although we know that Wegener was a popular and skilled teacher and colleague, our data raise serious concerns about Dr Wegener’s professional conduct. We suggest that the eponym be abandoned and propose ‘ANCA-associated granulomatous vasculitis’ as an alternative.
See the full article here: http://rheumatology.oxfordjournals.org/cgi/reprint/45/10/1303.pdf.
In the 1980’s, shortly before he died, Wegener was awarded a “master clinician” prize by the The American College of Chest Physicians, but this was rescinded once his association with the Nazi regime was discovered.
In the 1980’s, shortly before he died, Wegener was awarded a “master clinician” prize by the The American College of Chest Physicians, but this was rescinded once his association with the Nazi regime was discovered.
Lastly, a reminder: Please help me spread the word about Wegener's and Vasculitis. If you do, you will be entered into a drawing to win a Hope Necklace. See the details of the drawing here.
I wish you luck in your treatment plan. They haven't diagnosed mine as of yet but I just went to the emergency room with kidney problems a couple of weeks ago and this seems to be the big cahuna as to symptom. I've had uveitis and had two biopsies of my lungs for junk in there. Anyways, I bought a box of chocolate chip cookies when grocery shopping. I suppose there's no sense in depriving myself now. Like you I have a doctor in Boston and it is really a pain in the butt having to go there but he is the best from what I've heard. As far as the Nazi doctor, That was a long time ago and it's not really worth commenting on.
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