CF plus Wegener's disease/granulomatosis with polyangiitis

[mmw]

My husband is 38 years old, diagnosed at 17 with CF. He has had relatively good health up until the last year. Last year he was on several rounds of po antibiotics and 1 round of IVs in October. This year he has been ok, but with extreme fatigue. In mid August he started having moderate to severe joint pain all over. Some days it would be his knee hurting the next day his shoulder and so on. His CF doctor recommended an orthopedist (which we kind of thought was ridiculous at the time, but still went to the appointment). By the time we saw the orthopedist my husband had developed pustules on both elbows. The same day we saw the ortho we also saw our PCP. Both doctors suggested he see a rheumatologist. In addition, to the joint pain, pustules my husband has also had a low grade fever develop. Long story short the rheumatologist and CF doctor think my husband has Wegener's disease also known as Granulomatosis with polyangiitis (GPA). He has had a positive ANCA and PR3 test. Tomorrow we go for a nasal biopsy to ultimately determine if it is Wegeners.

Does anyone have any experience with Wegeners, these symptoms or a positive ANCA and PR3? We are very scared and praying that the doctors are wrong.

 

[LittleLab4CF]

I'm not suffering from Wegener's disease and I have a feeling that you are unique. Wegener's occurs at the rate of ~15 people per million, CF occurs at the rate of ~1 person per 30,000, the likelihood of a person with both is like 1 in 100 million. Not to get carried away with statistics but you probably don't have Wegener's disease, just based on statistical probability.

The flip side is what makes your doctor believe that this is Wegener's disease. The two tests you mention are not absolute. What else is pushing the diagnosis? That's what I would like to know. Wegener's as you know is a weakening of the vascular structure. Vasculitis or weakened and leaky blood vessels is like CF, the spectrum of mild to really serious. If the cardiovascular system is affected, the heart and major vascularized regions, those affected by CF can get serious, fast.

I won't presume to second guess your doctor but from what I have learned, you have two double threats. Pulmonary disease is a common cause of death in both CF and granulomatosis with polyangiitis. The second threat is the GI tract. An autoimmune disorder that causes the body to attack the blood vessels with half baked theories about why and how they do it. I'm hoping that it's manageable.

Best of Luck,

LL

 

[mmw]

LL,

The quick onset of moderate to severe joint pain, pustules on his elbows, extreme fatigue, new cavitary nodules found on CT and low grade fevers in addition to lab results mentioned above; PR3 of 402 are leading the doctors to this diagnosis. Also, loss of appetite and weight. In the spring he had an eye and ear infection at the same time on the left side.

I am not as convinced. He just finished 2 weeks of IVs and Zyvox and is remarkably better. Fevers gone, PFTs much improved, not as fatigued, pustules appear to be either healing or at least not worsening. And...in August he grew MAI in his sputum culture. This is new for him. It took about 8 weeks to grow and they repeated another sputum specimen about 2 weeks ago.

Results from the nasal biopsy are not back yet. He has a perforated septum, which was diagnosed 4 years ago. Common in CF patients, but wanted to check the nose first to see if they can confirm the diagnosis. However, most often nasal biopsies are negative when testing for Wegeners. Next step is an open lung biopsy if the nose is negative.

He is an obvious anomaly to the doctors we've seen. We're soon to meet another rheumatologist this week and I know he's never seen a CF/GPA patient. Actually no one can find it in any literature searches so he is an anomaly. I've made calls to National Jewish and the Cleveland Clinic. I'm calling Mayo tomorrow.

I appreciate your time and input. If you have any other recommendations or suggestions please feel free to post them.

Thanks,
Marci