Q:

9/5/2013
We have a 25 yo woman with 10 yr hx of episodic abdominal pain, lip and hand swelling and urticaria. Only significant lab result was C1 esterase inhibitor low 33 (<67) and on repeat 27. C4, CH50, C1Q, CU index, Tryptase, cryoglobulins, antithyroid abs, ESR, ANA, lyme, Serotonin, Chromogranin A, Immunofixation, H. Pylori, O&P, all negative. RAST and skin tests to foods and enviromental all neg. IgE 24. She had a weak reaction to corn and wheat on skin test & has avoided. Has been off gluten for year. An abdominal CT was negative (no abdominal complaint at time). She was recently diagnosed with postural orthostatic tachycardia syndrome and started on Toprol. More recently she has had migraines and had a tonic clonic seizure while waiting in a hair salon. We have witnessed her feet turn blue when dangling them on exam table, and apparently her hands will as well. Another MD is contemplating starting a low dose anti depressant for anxiety as she is afraid to leave her home. Would you order any other tests and what are your thoughts on starting a preventative c1 esterase inhibitor?

A:

Thank you for your inquiry.

I am going to refer your inquiry to Dr. Allen Kaplan who is an international expert in urticaria and angioedema. As soon as we receive his response, we will forward it to you.

Thank you again for your inquiry.

Sincerely,
Phil Lieberman, M.D.

Thank you for the additional information noted below:
The prior C1INH levels that were low were a percentage of protein. The patient had the tests repeated at a different lab this week the C1INH levels and C4 were normal but the C1Q binding assay was elevated 7.9 (0-3.9) and CH50 was 148 (60-144). She did not have any symptoms at the time. She has been instructed to have C4 repeated when having symptoms.

We forwarded the information to Dr. Allen Kaplan. Thank you again for your inquiry.

Sincerely,
Phil Lieberman, M.D.

Response from Dr. Allen Kaplan:
So far the evidence indicates that she does not have hereditary Angioedema.

Sincerely,
Allen Kaplan M.D.

AAAAI - American Academy of Allergy Asthma & Immunology