Unidentifiable disease / condition. Is it Lupus or a type of Leukemia?

[LL_H]

What we know:
-PR3 antibody elevated/positive (2x confirmation)
-ANCA Negative
-ANA: 1:640 (5x confirmation)
-Lymphocytes - remain elevated
-Neutrophils - remain low

All other labs normal - specialized testing for everything. Fatigued, urticaria-like rash (no itch), extreme facial flushing, throat swelling (feels odd/difficult to swallow), randomly located pain that comes and goes, abdominal pain, lower left back pain. No allergies. I have been to four rheumatologists, a neurologist, hematologist, allergy/immunologist.

[Ken_PA]

Well, here's some speculation - since you have been through the usual path and gotten no result. The problem is in distinguishing between the 3 possibilities.

Sometimes Dx'ing immune conditions will be fuzzy instead of being black and white. So let's take Wegener's (an autoimmune polyangiitis), which we'd expect to show positive for anti-PR3 antibodies, *and* also positive for ANCA. But there is a small percentage (maybe 5-10%) which are ANCA-negative Wegener's. [Anti-PR3 is a subset of ANCA. Anti-PR3 can be attacking not only neutrophils but also blood vessels.]

Things can get even fuzzier if the very rare patient doesn't have lung involvement, and so there are no positive scans for lung granulomas. So maye we can say you have some sort of GPA (Granulomatosis with PolyAngiitis) that isn't quite the particular subtype called Wegener's.


Or let's take Lupus. Your ANA and symptoms would seemingly qualify to have you further tested for Lupus via anti dsDNA, Smith and maybe Ro antibodies.

I'd want a trial of prednisone, to see if you improve. That'd be a big clue, though not a long term treatment.


A leukemia like CLL is prbly the least likely. Though elevated lymphocytes fit CLL more than Lupus and even more than GPA.