I have an interesting case. This is a 12 y.o. white female with a history of recurrent episodes of sore throat and neck swelling associated with difficulty swallowing on and off for over one year. Last September 2012 started to developed sharp, stabbing twinges of abdominal pain about 5 days/week. Some pains will start in the upper region and travel down to her lower abdomen; location is not consistent. These episodes occur about 1-3 times a day, when they occur, and generally last about 5 min. She describes the pain as like a "vacuum cleaner sucks in my stomach then releases it". No relief with BM. She was admitted last October 2012 due to severe abdominal pain requiring cholecystectomy (Scan: decrease gallbladder emptying; Abdominal CT: normal).
Even after her cholecystectomy she has continued with the recurrent abdominal pain. She had an upper endoscopy was normal with 5 negative biopsies of the stomach and esophagus. Stool cultures for Salmonella, Shigella, and Campylobacter were negative, as were C.diff toxin, white cells, giardia and cryptosporidium antigen testing.
Interestingly, her family history is remarkable for Hereditary Angioedema on Dad and paternal GM. Recently she has started to developed episodes of hand and lip swelling. So far, unable to identify any triggers except with heavy exercise.
Initial work up last October 2012: C1esterase functional activity of greater than 100% obtained on 10/18/12 from an unknown laboratory, a C1esterase quantitative determination of 12 (11-26) and normal C1q level.
Repeated tests last April 9, 2013: C4 15 mg/dl (normal 14-40), C3: 122 m g/dl, CH50: 50U/ml, C1 INH EST Function >90, and ANA: 1.16 (Negative < 1).
Last May 2, 2013 she was seen at our ER with swelling to tongue and uvula without any hives. Her lab work at the ER during the acute phase (before Berinert): C1 Inhibitor Function: 90 (Normal > 67), C4: 10 mg/dl (LOW; normal 14-40). Abdominal MRI: normal. She was given BERINERT (C1 Inhibitor Esterase) for the first time with resolution of symptoms. The diagnosis of HAE was made by clinical trial of C1INH and FH .Last June 2013 she was started on Tranexamic Acid.
Since July 2013, she has continued with her recurrent episodes (hand swelling and abdominal pain requiring multiple doses of Berinert even with prophylactic Tranexamic acid. She was started on Cinryze infusions last September 2013. She is still having breakthrough episodes.
Will appreciate your suggestions.