[CIS PIDD] complement deficient patient with undifferentiated collagen vascular disease

[Christine M. Seroogy, MD]

Dear Colleagues,

I would like your input on where to go next for complement work up on a complicated patient. Dr. Giclas has been a tremendous help and resource with this case.  I am posting this to gather input from others.


18 y/o male  seen at an outside institution 2008-2010 for immune work-up. He presented with a history
Of pneumococcal sepsis (age 4 years) and a separate presentation of pneumococcal
Meningitis (2008). He is labeled as C2 deficiency.  There is a strong family history of autoimmune disease in several maternal relatives and his sister has ITP.

Test results done at NJC while at the outside institution:

1.  2008: undetectable C2 & C4; CH50 <10; AH50 normal (I believe in setting of recovering from meningitis)
2.  2009: C2 3.2 (at NJC no range given); C4 7.6; C2 functional assay
8404 units/ml (nl 15354-46248); C3 65.4
3.  Adequate response to pneumococcus, normal IgA and IgG with
persistent hyperIgM (1200s).

Studies at our facility:

Seen separately by rheumatology and immunology services at our institution.  Reports history of debilitating fatigue and intermittent joint pain since March 2013.  He does not fit the criteria for a definable autoimmune disease and is being labeled as undifferentiated collagen vascular disease.

1. CH50 0 and C3 73 (normal 90-180)

2. Addition labs are notable for elevated IgM (1240 mg/dl), negative rheumatoid factor, high positive IgM
anti-cardiolipin Ab, ANA 1:160, and intermittent low positive anti-de DNA.
ESR is elevated at 28, urine is normal, complete metabolic panel is
Normal.

3. NJC labs:

C1f: 0 (75672-190932)
C2f: 7817 (15354-46242)
C3f: 12565 (11249-42887)
C4f: 310218 (4 x 10^5-4.3 x 10^6)
C4d:C4: 0.6 (0.63-8.21)
CIC (Raji and solid phase): negative

Subsequent studies:


  1.  C1r, q, and s levels are all low
  2.  Cryoglobulins positive, with IF demonstrating type 1 (CT-PET of chest/abdomen/pelvis pending. No LA or splenomegaly. No fevers, normal uric acid and LDH).
  3.  After close monitoring, turned Coombs' + with drop in hemoglobin to 11.6.  White count normal, platelets 120K.
  4.  Eye exam with bilateral mild uveitis
  5.  ESR increased to 55

I would like to definitively diagnosis any underlying complement defect and his labs suggest C2 heterozygosity. Any thoughts on where to go next?

Thank you

Chris


Christine M. Seroogy MD,  FAAAAI
Associate Professor
University of Wisconsin School of Medicine and Public Health
Department of Pediatrics
Division of Allergy, Immunology & Rheumatology
1111 Highland Avenue
4139 WIMR
Madison, WI  53705-2275
phone: 608-263-2652
fax: 608-265-9721







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