The CSSA is pleased to share two new patient stories by David Hohmann and Denise Trachsel. Both David and Denise are well known on the Churg Strauss message boards for their knowledgable and sympathetic posts and both write compelling stories sure to resonate with the CSS/EGPA patient community. If you would like to share your story, please contact Jane Dion at email@example.com with the subject line “patient story”. Thank you, Denise and David!
Hypereosinophila and the Long Path to Diagnosis and Treatment
By David Hohmann
It all started with a cough. In the mid 1980’s I was nearing 30 years old and living in NYC working nights at a night club to make extra money. I was around a lot of second hand smoke and every night after work I would go home with the feeling that my lungs were full of cotton. Within a few months I started coughing; at first for just a month or so but each year it would seem like I was adding another month. Eventually I was coughing year round and it was hard for me to talk without it causing a coughing fit. At the time my only doctor was an internist and she felt that the cough was being caused by my allergies. I started seeing an allergist who gave me shots for all the typical air-born culprits. It helped a lot but it was the eventual addition of Advair that finally helped me get the cough under control. I thought I would be okay.
In 1999 I was 42, living in Hoboken NJ and I was at work when I took an aspirin for a sinus headache. Within half an hour my lips had swollen and my esophagus was constricted so that I couldn’t swallow. I was taken to the ER where they gave me a shot of Benadryl. I felt better almost immediately and I stopped taking aspirin! By the end of the year my sinuses that had been chronically infected all year were nearly closed. I had lost my sense of smell. I went to see my first ENT who ordered a CAT scan of my sinuses and had me tested for asthma. The asthma test was inconclusive but he felt that I had adult onset asthma. Because I also presented with nasal polyps and aspirin sensitivity he diagnosed me with Samter’s Triad Asthma. In addition, I had eosinophil levels of 10.6%. A note on the lab sheet indicated that that level was consistent with “severe asthma”.
I had my first nasal polyp surgery the following year in June 2000. I remember going to the closing of my first home in Westwood NJ with the strings for the nasal packing taped to my face! The return of my sense of smell was much appreciated though and I was feeling optimistic about my prospects.
Within sixteen months I was having another nasal polyp surgery and my ENT was somewhat disappointed in the progression of the polyps. He was prescribing a nasal rinse and occasional oral steroid use. He also started a process that I continued until 2006, of directly injecting the polyps with steroids every few months. It would help give me relief for a few weeks. Also, like clockwork, every two years I would have another sinus surgery. My fourth was in December 2006. Around this time my ENT said two things to me that I thought were interesting. First, he told me that I was probably his most diseased patient. And second, he told me that he had heard of a doctor in my hometown of Westwood that was doing aspirin desensitization as a treatment for asthma and nasal polyps. The theory is that by reintroducing aspirin, the cascade of auto-immune reactions can be stopped or slowed. So in January 2007 I had the two day procedure done at a local hospital. I witnessed miraculous results for some of the asthma patients in the program with me. An older woman who had suffered from severe asthma left smiling and breathing better than she had in years. I assume she’s still doing fine. The desensitization seemed to help me for awhile too. My asthma was better controlled and I felt better than I had in years.
The summer and fall of 2009 were particularly hard. I had gotten a sinus infection that summer and I just wasn’t feeling very well. I don’t worry too much about being fatigued because I think I’ve always felt a little tired. I just get up and do what I was going to do anyway. I was taking low doses of prednisone, Zyflow CR and Singulair (montelukast) to control my asthma. I was researching the drugs I was taking and ran across a description of a disorder called Churg-Strauss Syndrome (CSS) while reading about Singulair. When I went to see my ENT in October 2009 I mentioned CSS. It was like a light bulb went on in his head. He thought that it was a real possibility and that I should look into it further.
I first went to some well-known rheumatologists who spent a good deal of time with me and ran all the right tests. The blood tests they gave me were all negative. I had been on pretty high doses of prednisone because of my sinus issues. The doctors, who seemed familiar with CSS, knew of the more severe presentations i.e., with eos levels above 40%, ANCA positive and post-vasculitic organ involvement, but they weren’t very familiar with cases without very clear clinical clues i.e., ANCA negative, normal SED rates, or IgE levels. My 25-year history, ANCA negative, eos levels around 10% (as high as 15% at one time, but no higher) and triad asthma made the diagnosis of severe asthma with nasal polypsis seem more likely to them.
The combination of aspirin sensitivity and CSS had proven to be the biggest obstacle to a clear diagnosis, as so many of my doctors (and even an expert on eosinophilic disorders) had told me that they had never seen a case of CSS with Triad Asthma. After having participated in online chat groups however I knew of half a dozen such individuals. Knowing that these patients existed was enough for me to keep pursuing a better diagnosis.
2010 was a pivotal year. I had just turned 53. In the winter I started developing neuropathy in both legs. It began with tingling and a wet sock feeling on the bottom of both feet. Eventually it expanded to my upper legs with patches of burning sensations and constant small-muscle twitching. I went to see a neurologist who gave me a nerve conductivity test that was negative. He didn’t feel like I had much to complain about - I was still walking after all. In June I had my fifth nasal polyp surgery. In August my immunologist again confirmed his diagnosis of Aspirin Exacerbated Respiratory Disease with aggressive sino-nasal polyposis. He felt that my neuropathy and triad asthma were unrelated. By December my nasal polyps were back. It had only taken six months for them to reoccur. That month I also went to see a new doctor, adding a gastroenterologist to my list of many specialists. I was having trouble swallowing liquids and I would experience severe pain at times in my esophagus. He ordered an upper GI endoscopy with biopsy. They took only three biopsy samples, one from each segment of the esophagus. The highest eos level of the three was 8%. He diagnosed GERD and I started taking Prilosec.
The issues with my esophagus were not improving however. By March of 2011 my gastro doctors (now there were two) were recommending an Esophagus Motility Study. They put a long tube down my throat all the way to my stomach, and as I swallowed a special solution, they took measurements all along the tube. As a result of the study they diagnosed Vigorous Achalasia. I’m not a doctor but I do have access to the internet, thank you Wikipedia! I looked up motility study and saw my choices: achalasia, diffuse esophageal spasms, nutcracker esophagus, etc. Since I had my manometry in hand I could compare the results. It seemed obvious to me that I didn’t have achalasia but diffuse esophageal spasms. With more online research I saw that DES was a neurological problem that was sometimes associated with vasculitic diseases like CSS. Now I was armed with a wide group of problems: neuropathy, gastro, asthma and nasal polyps. I felt confident that I was suffering from one problem, not many. I just needed to convince one of my doctors so that I could get a referral to one of the research hospitals; Boston’s Mass General, Baltimore’s Johns Hopkins and Ohio’s Cleveland Clinic were all good possibilities. I went to see my internist who finally relented and gave me the referral I needed. I chose Johns Hopkins.
It took me a couple of months to get my appointments to see the doctors at Johns Hopkins. I contacted JH directly to ask them what I needed to provide them in order to get a consultation. They told me to send my medical records to my “medical concierge” who would organize all of my appointments. Since JH is a teaching/research hospital the doctors typically only see patients one or two days a week – and it’s never the same day! It is very helpful to have someone there who could plan my visit.
My concierge set up three days of consultations. On May 11, 2011 my wife and I drove the four hours from Westwood to Baltimore. Over the three days I met with six doctors. The doctors had gone over my complete medical records prior to my visit. I met with each of them for about an hour. Everyone was very informative and able to add insight into my particular case. Their diagnosis was consistent with what I had found online and self-diagnosed back in 2009 – i.e., either 2nd stage pre-vasculitic Churg-Strauss Syndrome, or a similar hypereosinophilic disorder (like Wegener’s), or from the few dissenting opinions, worsening Samter’s Triad Asthma with unrelated other symptoms.
Churg-Strauss Syndrome is one of many forms of vasculitis. Vasculitic diseases are characterized by inflammation of blood vessels. Churg-Strauss Syndrome, in particular, occurs in patients with a history of asthma or allergy and features inflammation of blood vessels (also referred to as angiitis) in the lungs, skin, nerves, and abdomen. The blood vessels involved in Churg-Strauss Syndrome are small arteries and veins. The disorder can lead to necrosis (death of cells). Fortunately for me, my doctors did not feel that I had reached the necrotic stage where my blood vessels aren’t giving my cells any oxygen or food. If I had reached the necrotic stage I would have had more serious issues than I was currently presenting with.
I first met with Dr. Mike Polydefkis, a neurologist, associate professor and director of the Cutaneous Nerve Laboratory, who did a clinical exam, EMG and skin biopsy. My clinical exam and EMG were normal. My symptoms included symmetric areas of muscle twitching and spasms on the back of both of my legs, a “wet-sock” feeling on both feet and areas of burning sensations around my ankles. I did not have any problems with balance or walking at this time (in 2012 my legs started to become much stiffer and it is a little more difficult to get moving when I get up from sitting.) At the time I noticed that my legs were becoming more and more fatigued while walking on long hikes. Since 2009 the problems have been getting progressively more severe. Depending on the results of the skin biopsy, the early diagnosis was peripheral polyneuropathy without clinical support.
After I met with the neurologist I went to the Vasculitis Center and met with Dr. Rebecca Manno and Dr. Stuart Levine. At the time Dr. Manno was a fourth year fellow who now has her own practice in the Vasculitis Center. Dr. Manno had reviewed my medical files. We first went over recent events. She took a good deal of notes and discussed all of the issues, while getting a good diagnosis considering my clinical results (most being normal and spread over many years of progressively worsening symptoms.) We spent quite awhile together. Later, Dr. Levine came in to speak with us. His general impression of my case was that I had a non-necrotizing vasculitis with high eosinophils consistent with one of the small blood vessel vasculitises, such as Churg-Strauss, Wagner’s, or hypereosinophilic syndrome (he noted the small h as opposed to the capital H in hypereosinophilic syndrome). He didn’t fully agree with the current classifications of the various disorders feeling that there were probably more overlap, or actually more disorders then currently classified. For instance, we discussed the original group of CSS patients versus what they know now about other patients i.e., division between ANCA positives and negatives and long and short periods of development (I started getting sick after developing adult-onset asthma twenty-six years ago.) He also pointed out that it really didn’t make a difference as the goal was the same – get the eosinophils to zero. To achieve 0% eos I’d be on high-dose steroids and Imuran (once some blood work confirming my tolerance for the drug is complete). Doctors Manno and Levine both felt that it may be the high levels of eosinophils that were causing my symptoms and so that was why the aspirin desensitization had not worked to reduce the polyps. I left the Vasculitis Center after giving lots of blood for lots of tests.
My next day at JH was spent between an ENT and having the EMG and skin biopsy performed. The ENT, Dr. Jean Kim, discussed my nasal polyps, triad asthma, and their cause. She had a more positive opinion of aspirin desensitization in the treatment of triad asthma and had treated a number of cases of both triad asthma and CSS. She recommended that I see an immunologist at the hospital that was expert in eosinophils. (A few months later on a follow up visit I saw Dr. Bruce Bochner – also a member of the CSS Associations Medical Advisory Board.) After my appointment with Dr. Kim I had my EMG and muscle study. Both appeared normal – well better than normal, and as I was told many times that “normal” is a good thing.
After meeting with Dr. Kim I then had a skin biopsy performed. Biopsies can be very important in the diagnoses of small-nerve neuropathies, but after a few days the results for these tests came back negative (normal). This was not a bad thing, but still not much help clinically.
My last appointment was with Dr. Mouen Khashab, a gastroenterologist. As recently as February of that year I was suffering from severe pain in my esophagus and had difficulty swallowing fluids in particular. I had multiple tests performed including an upper endoscopy with biopsy (they showed 0-8% eosinophils), a barium swallow, and a motility study. I had thought that the likely diagnosis would be diffuse esophageal spasms, but after the motility study the doctors came up with vigorous achalasia. Dr. Khashab didn’t agree with the diagnosis referring to the monometry from the lower esophageal sphincter because the problems were more prevalent in the upper, not lower esophagus. The diagnosis of DES is consistent with CSS. He recommended that I be treated with 30mg of nifedipine. Nifedipine has worked very well in stopping the DES and I take it whenever the problem starts up.
A few days after my visit I found out that my blood tests indicated that I probably would not tolerate Imuran so I was put on cellcept (mycophenolate) instead. I began with a 30mg dose of prednisone along with 2,000 mg of cellcept, tapering the prednisone over a period of months to zero. I was monitored with monthly lab tests (now every six weeks).
Since then, my treatment with prednisone has kept my eos levels near zero, but while on cellcept alone I have only been able to keep my eos levels below 5%. I have an occasional flare where my eos levels get to 10%. My neuropathy has persisted to the same degree as it was at my initial visit. My gastro issues have nearly gone away however. My heart has started to develop problems, with a Right Bundle Branch Block being diagnosed most recently. Apparently, to a cardiologist, a RBBB is “normal” for a man my age. If you do your online research however, you see that it is also an early sign of cardiac involvement for CSS patients. It is something that I will be keeping a close eye on. I have also had my sixth nasal polyp surgery with my local ENT (a long-time supporter of my CSS diagnosis), and my third aspirin desensitization with my local allergy and asthma specialist. As of this writing I have again lost my sense of smell and I am suffering from worsening asthma. I have another appointment with Dr. Levine soon. My eos levels are at 10.0% so we’ll see what he has to say…
I'm doing OK now
By Denise Trachsel, Saskatchewan, Canada
I am one of the rare few to get Churg-Strauss Syndrome vasculitis, or Eosinophilic Granulomatosis with Polyangiitis…but it didn't get me! I'm grateful to be alive and to share my story here. I was diagnosed in Jan/09, at the age of 50, but as I look back into my medical records and journals, I see signs of the illness many years prior. Decades of doctoring, with numerous ailments, odd symptoms, and endless testing became the frustrating norm for me.
I have lived on a farm for all but 2 years of my life. I recall always being allergic to cats, horses and later all fur-bearing animals, resulting in mild asthmatic episodes. I married, gave birth to 2 children, and at the age of 29, I had unexplained symptoms of numbness, roving joint pains/stiffness, fatigue, weakness, hoarse throat, etc. Over the years I developed: chronic sinusitis; atrophic/allergic rhinitis; nasal polyps and nasal sores that wouldn't heal; stomach and abdominal issues; chest pains that were attributed to costochondritis; osteoarthritis; tachycardia/symptomatic heart arrhythmias and bouts of bronchitis with mild asthma. That's a lot of words with 'itis' in them, which means inflammation.
I had an anaphylactic reaction to Aspirin at age 40, followed by rashes with welts for months afterward. I was given a salicylate-free/tartrazine-free diet to help get over this, along with Benadryl. At 46, I dealt with 6 weeks of daily, severe headaches and dizziness. I also felt as though I was going to die in my sleep and I awakened frequently in the night. I now know that I have sleep apnea. Records show granules/eosinophils in a small growth removal and above normal eosinophils in blood work, which doctors attributed to allergies. At some point in all of this, I must have entered into the vasculitic stage of CSS, although I didn't know it at the time. Going to so many doctor and ER visits made me feel like I was a hypochondriac.
It was in the fall of 2008, that I got more and more ill. While working near the cutting of cement blocks for the exterior of our house, I failed to use a proper mask and was inhaling silica dust… which I now know is linked to being a possible trigger for ANCA-associated vasculitis, that I have. Considering my family history of autoimmune illnesses and my earlier symptoms of CSS, I believe that this is one of the triggers that helped to launch me into the final vasculitic stage. I had a bad ear infection and developed an unrelenting cough. Roving joint pains returned more severely this time, along with my previous symptoms, plus low grade fever; night sweats; abdominal pain/loss of appetite/weight loss; mouth and scalp sores along with the other sores that wouldn't heal; nodules on elbows; eye pain/blurry vision; itchy rashes; painful constriction of throat; and so on… I required some hospitalizations, was misdiagnosed with pneumonia, had progressively worsening/productive cough, and severe burning pain/numbness/tingling in my foot and lower legs. My bones felt like they were on fire and I could barely move. Just rolling over in bed was excruciating and several pillows were needed to lay on because of pain. I told my husband that I was going to die if they didn't find out what was wrong with me, which is exactly how I felt. I felt my body shutting down and I was almost ready to give up. Oddly, I felt no fear, but was at peace. I had no strength left to fight for answers, so my husband took over my job of advocating, to get me some help.
I was finally admitted to a university hospital, under the care of my knowledgeable rheumatologist, who was assisted by a dermatologist in my diagnosis. Along with the review of my history and clinical data, CSS was confirmed with biopsies of the wounds from rashes, which showed vasculitis with eosinophils. I was coughing up bright red blood, had mild kidney failure, muscle damage and mononeuritis multiplex, all of which have now improved. I was so relieved to get a diagnosis, to know that it could be treated and that I would live. I was put on 60 mg of prednisone immediately, improved quickly, got all of the cushingoid side effects (oh, the joy of my blowfish face!) and the start of cataracts and osteoporosis from it. I was thankful to be able to completely taper off the prednisone after 16 months, because it was making me crazy! I had Cytoxan every 3 weeks over the first 10 months, 12 infusions in all, and I was hospitalized with a deep vein thrombosis in my leg. I'm currently on the immunosuppressant, azathioprine (Imuran), and Bactrim has helped to keep me from getting infections since diagnosis.
My CSS remains stable, with no flares. Adhering to my nasal care regimen and use of my machine for sleep apnea helps me immensely. I find that good sleep is a necessary part of feeling well. I can't do as much as I could before, nor work at my chosen profession in nursing. It's hard to keep up to the rest of the world, so I go at my own pace now, with the support of a loving family. For me, living with a chronic illness involves some grieving for a former life, but also learning to accept, adjust, ask for help and be patient with myself and my abilities. I'm developing strength to face challenges. I've learned now to never give up and that it's best to always be your own advocate or get someone to advocate for you. I also have a renewed appreciation for life and hope for the future. I'm doing OK.