Is this CF, Asthma, or Who Knows What

I'm 42 & had asthma, allergies & sinus trouble since childhood.  I got upper respiratory infections, pneumonia, bronchitis, & ear infections often.  I also had trouble with bowel movements.  With allergy shots, & asthma control & rescue meds, I made it through childhood okay.  Since age 30 I've had repeated sinus infections (3 - 4 per year), bronchitis twice, pneumonia & pleurisy 2x.  I resumed allergy shots (have environmental & food allergies) @ age 30 & just recently suspended shots @ the advice of my Allergist/Immunologist.  At age 40, had emergency gallbladder surgery.  I'd had no gallbladder attacks or any other sign or symptom prior to the surgery.  Since then, I've been diagnosed with IgA deficiency & a slight leak in tricuspid valve (cardiologist said it's not serious). I was hospitalized 2x last yr with breathing problems.  CT Angiogram showed multiple granulomas in lungs. I seem to get infections, go on prednisone & antibiotics and the cycle repeats.    My asthma, if that's all this is, never seems fully controlled.  My allergist is working with me on that, trying to find the right medication to keep my PEF & FEV1 out of my yellow zone.  I have seen a pulmonologist as well but she just treated symptoms, no diagnosis.

Resident @ my dr's office in Nov '08 thought it might be CF but didn't do a sweat test after consulting with my doctor.  She thought that my asthma & allergies coupled with gastrointestinal symptoms, the gallbladder surgery, & irregular bowel movements were suggestive of CF & asked if I was tested as a child.  My mom said I wasn't.  I brought this up with my allergist/immunologist and he dismissed the notion.  I'm aware of some older adults being diagnosed with CF.

I don't feel that my chest is ever clear.  I cough up thick, clear mucus that is colored when I have a respiratory infection.  Is this just asthma & allergies or should I insist on additional testing?  Please help.

[National Jewish Health]

The diagnosis of cystic fibrosis (CF) is frequently established for the first time in people your age and older.  Serious consideration of CF is definitely warranted, especially since making the diagnosis does not involve invasive procedures.  Your history is consistent with that diagnosis.

Another possibility that has recently drawn considerable attention is the combination of immunodeficiency and autoimmune disease, which is discussed in the background section of the abstract below.
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Authors
Full Name Coutinho, Antonio. Carneiro-Sampaio, Magda.
Title Primary immunodeficiencies unravel critical aspects of the
pathophysiology of autoimmunity and of the genetics of autoimmune
disease. [Review] [21 refs]
Source Journal of Clinical Immunology. 28 Suppl 1:S4-10, 2008 May.
BACKGROUND: Primary Immunodeficiencies (PIDs) represent unique opportunities to understand the operation of the human immune system. Accordingly, PIDs associated with autoimmune manifestations provide insights into the pathophysiology of autoimmunity as well as into the genetics of autoimmune diseases (AID). Epidemiological data show that there are PIDs systematically associated with AID, such as immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), Omenn syndrome, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), autoimmune lymphoproliferative syndrome (ALPS), and C1q deficiency, while strong associations are seen with a handful of other deficits.

CONCLUSION: We interpret such stringent disease associations, together with a wealth of observations in experimental systems, as indicating first of all that natural tolerance to body components is an active, dominant process involving many of the components that ensure responsiveness, rather than, as previously believed, the result of the mere purge of autoreactivities. More precisely, it seems that deficits of Treg cell development, functions, numbers, and T cell receptor repertoire are among the main factors for autoimmunity pathogenesis in many (if not all) PIDs most frequently presenting with autoimmune features. Clearly, other pathophysiological mechanisms are also involved in autoimmunity, but these seem less critical in the process of self-tolerance. Comparing the clinical picture of IPEX cases with those, much less severe, of ALPS or APECED, provides some assessment of the relative importance of each set of mechanisms. [References: 21]
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Finally, there is a category of diseases in which neutrophils and macrophages are functionally defective and unable to kill certain types of bacteria.

The bottom line is that you may have a complex combination of autoimmune and immunodeficiency states or could have CF with immunoglobulin A (IgA) deficiency.

I recommend that you consider requesting a second immunologist’s opinion, at the National Institute of Health (NIH), the Mayo Clinic or National Jewish Health that is a specialty hospital dedicated to the treatment and investigation of respiratory and immunologic diseases in Denver, Colorado.

Good luck.

[Victoireh]

A related discussion, RE: is it CF, asthm or what? was started.