Wegeners granulomatosis and how it affects me
For those of you who are already familiar with my heath problems, feel free to ignore this. This is just an updated version of my original diagnosis post.
For those of you who are either new to my flist or unaware of my medical condition, please read on.
As of July 2007, I've been diagnosed with Wegeners granulomatosis.
What is Wegeners granulomatosis?
Wegener's granulomatosis is a rare form of vasculitis, or inflammation of the blood vessels, that begins in the respiratory system. As the disease progresses, it can cause complete kidney failure. Due to its end-organ damage, it can be a serious disease that requires long-term immune suppression.
Who does it affect?
Wegener's is so rare that only about 10 people in 1 million contract the disease each year. Most often, the patients are Caucasian and in while the disease can occur at any age, it is more likely to affect adults in their thirties and forties.
What causes it?
The cause of Wegener's granulomatosis has not been identified. However, it appears to be an immune system response to an unknown trigger. The bodies’ immune system produces white blood cells and proteins called antibodies that attack and kill foreign invaders - usually bacteria, viruses, and fungi. Wegener's granulomatosis seems to be an autoimmune disease, which means something causes the immune system to see the body’s own tissues as foreign invaders. In this case, the antibodies actually attack the immune system’s own white blood cells causing inflammation of the blood vessels and inflamed tumor-like masses called granulomas that interfere with blood flow. Wegener's granulomatosis is not hereditary or contagious, which means one person cannot pass it on to another.
Update: It is now widely presumed that the anti-neutrophil cytoplasmic antibodies (ANCAs) are responsible for the inflammation in Wegener's. The typical ANCAs in Wegener's are those that react with proteinase 3, an enzyme prevalent in neutrophil granulocytes. This type of ANCA is also known as cANCA, with the c indicating cytoplasmic (in contrast to pANCA, which is perinuclear).
ANCAs activate neutrophils, increase their adherence to endothelium, and lead to their degranulation. This causes extensive damage to the vessel wall, particularly of arterioles. (In laymans terms, this means that the ANCAs tend to stick to the walls of a person's blood vessles, and slowly eat away at that tissue.)
The exact cause for the production of ANCAs is unknown, although some drugs have been implicated in secondary forms of Wegener's. As with many autoimmune disorders, the cause is probably genetic predisposition combined with molecular mimicry caused by a virus or bacterium.
What are the symptoms? those that I suffer are in red.
Upper airway, eye and ear disease:
- Nose: pain, stuffiness, nosebleeds, rhinitis, crusting, saddle-nose deformity due to a perforated septum *NOTE:* The septum of my nose (ie, the piece of cartilage that separates a person's nostrils) was originally deviated, or off-centered and crooked, due to Wegeners, but has been re-adjusted thanks to a surgery. Yes, that's right. I got a nose job.)
- Ears: conductive hearing loss due to auditory tube dysfunction, sensorineural hearing loss (unclear mechanism)
- Oral cavity: strawberry gingivitis, underlying bone destruction with loosening of teeth, non-specific ulcerations throughout oral mucosa
- Eyes: pseudotumours, scleritis, conjunctivitis, uveitis, episcleritis
Airways:
- Trachea: subglottal stenosis
- Lungs: pulmonary nodules (referred to as "coin lesions"), infiltrates (often interpreted as pneumonia), cavitary lesions, pulmonary hemorrhage causing hemoptysis, and rarely bronchial stenosis.
Kidney: rapidly progressive segmental necrotising glomerulonephritis (75%), leading to chronic renal failure
Arthritis: Pain or swelling (60%), often initially diagnosed as rheumatoid arthritis (The pain I experience centers primarily in my sinuses, due to inflammation of the tissue in those areas. This inflammation causes extremely painful headaches, though I also experience joint and muscle pain.).
Skin: nodules on the elbow, purpura, various others (see cutaneous vasculitis)
Nervous system: occasionally sensory neuropathy (10%) and rarely mononeuritis multiplex
Heart, gastrointestinal tract, brain, other organs: rarely affected.
How is it diagnosed?
Because untreated Wegener's granulomatosis can progress to renal (or kidney) failure, it is important to diagnose and treat it as soon as possible. A doctor will study a person's medical history and perform a complete physical examination. Diagnosis is based primarily on a pattern of symptoms, but blood tests can help rule out other possible causes and support a diagnosis. Most people with Wegener's granulomatosis will have a high level of antineutrophil cytoplasmic antibodies (ANCAs) in the blood. These antibodies are the ones that attack the immune system’s own white blood cells. The amount of ANCA in the blood can help measure the progression of the disease. Blood tests may also show a low red blood cell count (anemia) and a high white count. Patients with renal disease may also have a build-up of wastes in the blood, called uremia, because the kidneys are not working as they should. Urinalysis also may show red blood cells in the urine. If symptoms indicate renal disease, your doctor may order a kidney biopsy, in which a small sample of kidney tissue is removed for study. Other diagnostic tests include lung x-rays and computed tomography (CT) scans of affected organs.
What is the treatment?
Wegener's granulomatosis is treated with immunosuppressive drugs, which inhibit the activity of the immune system in order to control the disease. One commonly used drug is cyclophosphamide, also used in cancer treatment. Wegener's granulomatosis is also treated with corticosteroids that reduce inflammation. Blood tests to measure the levels of antibodies in the blood help your doctor determine the dosage needed. Immunosuppressive drugs also compromise the body’s ability to fight infection, so it is important to guard against infections by receiving vaccinations against the flu and pneumonia while under treatment. Once fatal in most cases, people with Wegener's granulomatosis now have a good response to treatment when diagnosed early.
According to Wikipedia:
Before steroid treatment became available, mortality within one year was over 90%, with average survival being 5 months. Steroids prolonged average survival to 8 months. The introduction of cyclophosphamide (CYC) in the 1970s was a major breakthrough.[7]
Initial treatment is generally with corticosteroids and oral cyclophosphamide (CYC), 1 mg/kg/day and 2 mg/kg/day, respectively. Occasionally CYC is given in monthly intravenous (IV) doses. Monitoring of the white blood count is essential during CYC therapy. Once remission is attained (normally 3 to 6 months), treatment is frequently changed to azathioprine or methotrexate, which are less toxic drugs. Total duration of therapy should be at least one year, or longer in high risk patients. Corticosteroids are tapered to a low maintenance dose, 5-10 mg/day. Plasmapheresis may be beneficial in severe disease or pulmonary hemorrhage. Experience with other treatment agents is very limited.
In my case, I take a combination of the mentioned steroids (namely Prednisone), a anti-biotic known as Bactrim, weekly injections of Methotrexate, and bi-yearly infusions of an expirmental chemotherepy drug known as Rituxan. Because the steroids and chemotherepy treatments have high levels of side effects, I also take a wide range of other medications to counteract them. I also have to take narcotic pain medication in the form of Oxycontin to keep the pain from the headaches, which are caused by the inflammation of my sinuses.
My doctor decided not to put me on the cyclophosphamide infusions (also known as Cytoxin) because the high risk of becoming steril at my age. Since I'm still rather young (especially for someone with this disease), neither I nor my doctor want to risk losing a chance for me to have children in the future. That was why I was put on Rituxan instead, because even though it's still expirmental for the treatment of Wegeners, all tests done so far have shown it to be successful.
How does Wegeners affect me specifically?
Primarily, the main thing I experience due to my Wegeners is overwhelmingly painful headaches. These headaches are caused by inflammation of the tissue in my sinuses. It is unknown why the ANCAs in my system attack this particular area, rather than the lungs or the kidneys as is usual with this disease, but I am grateful in the way that I have yet to worry about lung or kidney failure (which would ultimately lead to death). However, the pain I experience can be so excruciating that only heavy amounts of narcotic pain mediation succeed in giving me relief.
During trips to the Emergency Room and stays in the hospital, I've been given Morphine, Dilauded (a synthetic form of Morphine), Oxycodone, Hydrocodone, and Fetynal. All of these are considered class 2 medications, meaning that if you're caught with them without having proof of a prescription, you can be arrested for possession. Not only that, but they are also highly addictive, and unfortunately for me, my body has built up a dependency on some of these medications. Should I suddenly cease to take them, I would go into withdrawal.
UPDATE: As of 2008, I've been weaned off the narcotic pain medication and put on Ketorolac instead. This helps because my pain is less frequent now and less overwhelming as it once had been.
Aside from the pain I experience, I also suffer from nosebleeds and symptoms that most people would mistake for allergies. Because the primary symptoms are very close to those of seasonal allergies, it took some time before my doctors came to the conclusion that I was suffering from something more than mundane. Also, due to the Wegener's, there is significant amount of damage in my nose, which led my doctors to initially believe that I was a drug user (specifically cocaine). What this all means is that after my initial diagnoses of having a sinus infection (which is another thing Wegener's is often mis-diagnosed as), it took nearly six months for doctors to properly diagnose my condition.
Thanks to the length of time that it took finally figure out what was the cause behind my year-long "allergies," unbearable pain, and loss of hearing in my right ear, I had to go through three sinus surgeries, three mastoidectomies, numerous nasal debrievments, more than ten hospital stays and enough blood tests to leave needle scars on my inner arms.
Because of the rareness of this particular disease, treatment has been somewhat difficult. Some of the usual methods for treatment would have been inappropriate for my age (like the Cytoxin), while some of the usual treatments proved to not be enough to push me into remission. The course of steroids, antibiotics, and methotrexate I was was not successful like my doctor had hoped, so as a result, I had to find another form of treatment. This took some time, because the route my doctor and I decided on is still considered experimental. My doctor and I had to fill out numerous requests for my insurance to cover the costly treatment, but since my doctor is well established in his field (being one of the number one rheumatologists in the nation), my appeal was granted and in March 2008, I began infusions of Rituxan.
Since the second infusion in April, I have been feeling a lot better and a lot healthier than I have felt for over a year. It has been nearly two years since my numerous hospital stays and ER trips began, and I'm glad to be (hopefully) moving on with my life.
Despite my seemingly remittive state, I still have to deal with some of the consequences of this disease. First of which are the side effects that I'm still dealing with that are caused by my medications. The Prednisone, being a steroid, causes depression, weight gain, and hormonal influxes. For me, this means I have to deal with negative emotions, unsightly acne (when I had originally had a very nice complexion), and the some 30lbs I've gained since starting treatment. Not only is it discouraging at times, but it also has led to other health issues. Not only does the prednisone make me gain weight, but it also throws off my glucose levels. Essentially, I have become diabetic when previously I had no problems with my blood sugar levels. A close eye has to be kept on these levels because they can cause kidney problems if not properly regulated. Since Wegener's also causes kidney problems, I have to be extra cautious.
Not only do I have to struggle daily with the affects given to me by my medication, but I also have to live with the fact that I will unlikely ever regain the hearing in my right ear. After the three surgeries I've had on it, and the significant amount of damage to my ear drum thanks to the Wegener's, I have lost a good portion of my hearing. My ear doctor remains optimistic that I'll regain my hearing eventually, but it's long past his initial theories on when my hearing would return. This is especially regretful, since I am a musician (I play the violin), and hearing is a primary part of being able to play well (and yes, I know Beethoven was deaf, but he played the piano. Not the violin).
The next thing I have to deal with regularly is to have regular blood tests, MRIs and CT scans. The first helps my doctors determine my ANCA levels (which lets them know whether I'm in remission or not), my glucose levels, and other things like my iron levels. I have to have regular CT and MRI scans to determine whether the Wegener's is advancing into my brain or not. Normally, most Wegener's sufferers don't have to worry about damage to the brain, but since my Wegener's is centered in my sinuses, which are very close to my brain, the doctors are determined to keep a good eye on that. Not only that, but during my initial CT and MRI scans, it was discovered that I had a mass in the back of my brain, on the right side. This caused some worry with my doctors because, obviously, a lump in someone's brain suggests a tumor. So far, the mass has not changed in size and my doctors have come to the conclusion that it's probably nothing to be concerned of. But they're keeping a watch on it nonetheless, because if it does look like it's growing, then a biopsy will have to be preformed.
Finally, the last thing I've had to face since the beginning of my health struggles is the inability I have to work. For over a year now, I have been out of work and out of school due to the effects of my disease. Fortunately, I was approved during one of my early hospital stays for aid from the State in the form of a General Asistance Grant. This grant provides for a certain amount of money that I receive each month in order to pay my bills along with Medical Aid that covers a good amount of my medical bills. This is especially helpful because even though I have very good insurance, it does not cover all the bills I've needed to pay.
UPDATE: And as of April 2009, I've finally been approved for Social Security Disability. Since it's become clear I can't work to earn money, I've been approved and now focus more on maintaining my treatment rather than worrying about whether my bills will get paid. Since I'm on disability, there's been a slight change in my medical insurance, mostly in the sense that I'm on Medicare now, rather than Medicaid. This means that much like retired individuals, I have to go through a lot of stipulations. But with the new steps in health care coverage, things are working out a lot better than they might've been.
The following is a list of the medications I'm currently taken, or have taken:
Ativan 1mg (As Needed For Sleep)
Bactrim DS 800-160 (Twice Daily)
Benedryl 50mg (As Needed)
Calcium 1g (Once Daily)
Cymbalta 90mg (Once Daily)
Flexeril 10mg (As needed for sleep)
Ferrous Sulfate 5g (Three Times Daily)
Folic Acid 5 1mg tablets
Gabapentin 600mg
Glipizide 5mg
Methotrexate 1cc subcutaneously (Once A Week)
Morphine Sulfate 15mg
Norco 10/325mg
Oxycodone 10mg, as needed
Oxycontin 10mg (Every 12 Hours)
Prilosec 20mg (Twice Daily)
Prednisone 7.5mg
Promethazine 25mg (As needed for nausea)
Rituxan Infusion (Every 6 Months)
Topamax 100mg
Trazadone 100mg
Verapamil 120 mg
Xanax 0.5mg (As Needed For Anxiety/Sleep)
Zoloft 100mg
TL;DR? I have a very rare, very incurable disease that has a large affect on my life, and I talk about it a lot. Also, it's a bitch to live with.