Clara, a 24-year-old woman with a love for gymnastics, presented to her GP complaining of frequent facial flushing over the preceding 12 months. She noticed that over time, these flushing episodes had increased in frequency and seemed to be lasting longer. During late summer, the skin on her face had been feeling tight and itchy, and pus-filled pimples had developed.
Based on her symptom profile, Clara was diagnosed with rosacea. To reduce the risk of flare-ups, the GP proposed a management plan which involved avoidance of potential triggers, including:
3 months later, after consultation with a specialist in mast cell disorders, it was revealed that Clara had hereditary alpha-tryptasemia syndrome. This explained the chronically elevated tryptase, and Clara's trouble with persistent facial flushing.
Clara was still adhering to a strict gluten-free diet, and her tTG IgA level had dropped to 31 U/mL (3x ULN).
These results together with this patient's case history and symptoms, help confirm the diagnosis.
Test | Type | <Patients Name> Results |
Test Name | Whole or Component | ## |
IgA: immunoglobulin A; IgE: immunoglobulin E; ULN: upper limit of normal
The people, places, and events depicted in these case studies and photographs do not represent actual patients, nor are they affiliated in any way with Thermo Fisher Scientific.