We welcome the discussion, which contributes to a more differentiated understanding of hereditary alpha-tryptasemia (HAT) as a genetic disposition.
Our review article reflects the current state of research into HAT (1). The association of HAT with severe degrees of anaphylaxis and also systemic mastocytosis is scientifically proven (2, 3). The situation is more difficult as regards the prevalence of clinical symptoms, which can only be worked out using a large unselected cohort.
Our article’s focus is on the observation that the prevalence of carriers of the HAT trait is increased among patients who presented to our own allergy ward with allergological symptoms (1). It was not the multifunctional health problems that prompted the diagnostic evaluation for HAT but the allergologic questions that (with an often negative allergologic diagnosis) triggered the baseline serum tryptase (BST) measurement. The diagnostic evaluation for HAT was carried out in patients with high-normal (8–11.4 μg/L) or raised (>11.4 μg/L) BST measurements; the median BST value in the population is 5.1 μg/L (4).
The data on the prevalence of symptoms in Table 2 of the article therefore refer to the patients who presented to us with allergologic symptoms. As our correspondents rightly pointed out, a causal association between HAT and symptoms cannot be established without a control group. Still, in this cohort the overall symptom burden is high.
We are of the opinion that HAT has a clinical relevance in symptomatic individuals even now. In unspecific symptoms, HAT should be included in all differential diagnostic considerations after all medical differential diagnoses and their clarification. Establishing and extending the diagnostic evaluation should therefore be mandatorily associated with the collection of scientific data so as to document the range and prevalence of symptoms in carriers of the HAT trait.
Footnotes
Conflict of interest statement
The author declares that no conflict of interest exists.
References
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