Clonal mast cell disorders and hereditary α-tryptasemia as risk factors for anaphylaxis

Kačar, Mark (avtor), Rijavec, Matija (avtor), Šelb, Julij (avtor), Korošec, Peter (avtor)

The association between Hymenoptera venom-triggered anaphylaxis (HVA) and clonal mast cell-related disorders (cMCD) has been known for decades. However, recent breakthroughs in peripheral blood screening for KIT p.D816V missense variant have revealed the true extent of this clinical association whilst adding to our understanding of the underlying etiology. Thus, recent large studies highlighted the presence of KIT p.D816V among 18.2% and 23% of patients with severe Hymenoptera venom-triggered anaphylaxis. A significant proportion of those patients have normal serum basal tryptase (BST) levels, with no cutaneous findings such as urticaria pigmentosa or other systemic findings such as organomegaly that would have suggested the presence of cMCD. These findings of an increased prevalence suggest that the impact of cMCD on anaphylaxis could be clinically underestimated and that the leading question for clinicians could be changed from “how many patients with cMCD have anaphylaxis?” to “how many patients with anaphylaxis have cMCD?”. The discovery of hereditary α-tryptasemia (HαT)—a genetic trait caused by an increased copy number of the Tryptase Alpha/Beta 1 (TPSAB1) gene-, first described in 2016, is now known to underlie the majority of cases of elevated BST outside of cMCD and chronic kidney disease. HαT is the first common heritable genetic modifier of anaphylaxis described, and it is associated with increased risk for severe HVA (relative risk = 2.0), idiopathic anaphylaxis, and an increased prevalence of anaphylaxis in patients with cMCD, possibly due to the unique activity profile of α/β -tryptase heterotetramers that may potentiate immediate hypersensitivity reaction severity. Our narrative review aims to highlight recent research to have increased our understanding of cMCD and HαT, through recent lessons learned from studying their association with HVA. Additionally, we examined the studies of mast cell-related disorders in food and drug allergy in an effort to determine whether one should also consider cMCD and/or HαT in cases of severe anaphylaxis triggered by food or drugs.

• Jezik: Angleški jezik
• Ključne besede: anaphylaxis, venom, food, drugs, tryptase, mast cells, KIT p.D816V, hereditary α-tryptasemia, hypersensitivity, diagnosis, food hypersensitivity, drug hypersensitivity
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.02 - Pregledni znanstveni članek
• Organizacija: MF - Medicinska fakulteta ; BF - Biotehniška fakulteta ; FFA - Fakulteta za farmacijo
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2023
• Št. strani: Str. 392–404
• Številčenje: Vol. 53, iss. 4
• PID: 20.500.12556/RUL-146023
• UDK: 616-097
• ISSN pri članku: 1365-2222
• DOI: 10.1111/cea.14264
• COBISS.SI-ID: 133239299
• Datum objave v RUL: 18.05.2023

KAČAR, Mark, RIJAVEC, Matija, ŠELB, Julij in KOROŠEC, Peter, 2023, Clonal mast cell disorders and hereditary α-tryptasemia as risk factors for anaphylaxis. Clinical & experimental allergy [na spletu]. 2023. Vol. 53, no. 4. [Dostopano 7 april 2025]. DOI 10.1111/cea.14264. Pridobljeno s: https://repozitorij.uni-lj.si/IzpisGradiva.php?lang=slv&id=146023

Gradivo je del revije

• Naslov: Clinical & experimental allergy
• Skrajšan naslov: Clin. exp. allergy
• Založnik: Wiley
• ISSN: 1365-2222
• COBISS.SI-ID: 515014681

Licence

• Licenca: CC BY-NC-ND 4.0, Creative Commons Priznanje avtorstva-Nekomercialno-Brez predelav 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by-nc-nd/4.0/deed.sl
• Opis: Najbolj omejujoča licenca Creative Commons. Uporabniki lahko prenesejo in delijo delo v nekomercialne namene in ga ne smejo uporabiti za nobene druge namene.

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: triptaza, hereditarna α-triptazemija, živalski strupi, preobčutljivost, anafilaksija, diagnostika, mastociti, preobčutljivost za hrano, preobčutljivost za zdravila

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije