Hymenoptera venom-induced anaphylaxis and hereditary alpha-tryptasemia

O’Connell, Michael P.; Lyons, Jonathan J.

doi:10.1097/aci.0000000000000678

Cited by 37 publications

(28 citation statements)

References 65 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Patients with HAT have been reported to variably present with complaints indicating multi-organ disease and MCA. More recent data suggest that HAT is a valid genetic biomarker that associates with more severe mediator-related symptoms and thus MCA in anaphylaxis, IgE-dependent allergies and mastocytosis [46][47][48]55,56,60,61].…”

Section: Impact Of Genetic Predisposition In Mca and Mcasmentioning

confidence: 99%

Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine

Valent

Akin

Nedoszytko

et al. 2020

IJMS

120

View full text Add to dashboard Cite

Mast cell activation (MCA) is seen in a variety of clinical contexts and pathologies, including IgE-dependent allergic inflammation, other immunologic and inflammatory reactions, primary mast cell (MC) disorders, and hereditary alpha tryptasemia (HAT). MCA-related symptoms range from mild to severe to life-threatening. The severity of MCA-related symptoms depends on a number of factors, including genetic predisposition, the number and releasability of MCs, organs affected, and the type and consequences of comorbid conditions. In severe systemic reactions, MCA is demonstrable by a substantial increase of basal serum tryptase levels above the individual’s baseline. When, in addition, the symptoms are recurrent, involve more than one organ system, and are responsive to therapy with MC-stabilizing or mediator-targeting drugs, the consensus criteria for the diagnosis of MCA syndrome (MCAS) are met. Based on the etiology of MCA, patients can further be classified as having i) primary MCAS where KIT-mutated, clonal, MCs are detected; ii) secondary MCAS where an underlying IgE-dependent allergy or other reactive MCA-triggering pathology is found; or iii) idiopathic MCAS, where neither a triggering reactive state nor KIT-mutated MCs are identified. Most severe MCA events occur in combined forms of MCAS, where KIT-mutated MCs, IgE-dependent allergies and sometimes HAT are detected. These patients may suffer from life-threatening anaphylaxis and are candidates for combined treatment with various types of drugs, including IgE-blocking antibodies, anti-mediator-type drugs and MC-targeting therapy. In conclusion, detailed knowledge about the etiology, underlying pathologies and co-morbidities is important to establish the diagnosis and develop an optimal management plan for MCAS, following the principles of personalized medicine.

show abstract

Section: Impact Of Genetic Predisposition In Mca and Mcasmentioning

confidence: 99%

Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine

Valent

Akin

Nedoszytko

et al. 2020

IJMS

120

View full text Add to dashboard Cite

show abstract

“…Recently, hereditary alpha-tryptasemia (HαT) has been described, a genetic trait with duplicated TPSAB1 germline copy numbers leading to elevated basal serum tryptase (60)(61)(62), but also to MC mediator-related symptoms. It can be found in about 5% of unselected healthy individuals (61)(62)(63)(64).…”

Section: Hereditary Alpha-tryptasemia As Risk Factor For Mediator-related Symptoms and Anaphylaxismentioning

confidence: 99%

Mediator-Related Symptoms and Anaphylaxis in Children with Mastocytosis

Brockow

Plata-Nazar

Lange

et al. 2021

Preprint

View full text Add to dashboard Cite

Mastocytosis is characterized by pathological accumulation of mast cells (MC) in various organs. In these patients, MC may degranulate and thereby contribute to clinical symptoms, especially when a concomitant allergy is present. However, MC activation can not only be induced by high-affinity receptors for IgE, but also by anaphylatoxins, neuropeptides, IgG immune complexes, complement-components, drugs, products of bacteria or parasites, as well as physical factors such as heat, cold, vibration, stress, sun, or physical effort. Symptoms due to mediators released by activated MC may develop in adults suffering from systemic mastocytosis, but also evolve in children who usually have cutaneous mastocytosis (CM). Clinically, CM is otherwise characterized by typical brown, maculopapular skin lesions or mastocytoma associated with a positive Darier’s sign. Pruritus and flushing are common and blistering may also be recorded, especially in diffuse CM (DCM). Pediatric patients with mastocytosis may also have gastrointestinal, respiratory, and neurologic complaints. Although anaphylaxis is not a typical finding, pediatric patients with massive skin involvement and high tryptase levels have a relatively high risk to develop anaphylaxis. This paper reviews MC mediator-related symptoms and anaphylaxis in children with mastocytosis, with special emphasis on risk factors, triggers, and management.

show abstract

“…However, the prevalence of HAT was similar in patients treated in allergy clinic and in the general population [97]. The diagnosis of HAT may be considered in patients with basal tryptase level is ≥10 ng/mL [95,97]. In some patients with HAT the serum tryptase level is even lower (8-10 ng/mL).…”

Section: Hereditary Alpha Tryptasemiamentioning

confidence: 87%

“…In addition, the genetic background may be a clinically relevant co-factor. In particular, a new condition has been described where patients present with (i) elevated basal serum tryptase levels, (ii) additional copies of the alpha tryptase gene (TPSAB1) and (iii) a higher risk to develop severe mediator-related symptoms [94][95][96]. This genetic trait found in 5% of the general population and is known as hereditary alpha tryptasemia (HAT) [94,96,97].…”

Section: Hereditary Alpha Tryptasemiamentioning

confidence: 99%

“…This genetic trait found in 5% of the general population and is known as hereditary alpha tryptasemia (HAT) [94,96,97]. Some of these patients present with more severe symptoms of MC activation, including anaphylaxis to hymenoptera stings [95,96]. Hymenoptera venom allergy may also be more prevalent in mastocytosis patients with HAT than in cases without HAT (30.0% vs. 9.9%) [96].…”

Section: Hereditary Alpha Tryptasemiamentioning

confidence: 99%

See 1 more Smart Citation

A Challenge for Allergologist: Application of Allergy Diagnostic Methods in Mast Cell Disorders

Romantowski

Górska

Niedoszytko

et al. 2021

IJMS

View full text Add to dashboard Cite

Primary and secondary mast cell activation syndromes (MCAS) can occur in patients with mastocytosis. During the past few years our knowledge about the pathogenesis and disease-triggering mechanisms in MCAS and mastocytosis have increased substantially. Whereas mastocytosis is characterized by an accumulation of neoplastic (clonal) mast cells (MC) in various organ systems, MCAS is defined by a massive and systemic activation of these cells. Mast cells are crucial effector cells in allergic diseases, thus their elevated number and activation can cause severe anaphylactic reactions and MCAS in patients with mastocytosis. However, these cells may also degranulate spontaneously or degranulate in response to non-allergic triggers leading to clinical symptoms. In mastocytosis patients, such symptoms may lead to the diagnosis of a primary MCAS. The diagnosis of a concomitant allergy in mastocytosis patients is challenging. In these patients, a mixed form (primary and secondary) of MCAS may be diagnosed. These patients may also suffer from life-threatening anaphylactic reactions when exposed to allergens. In these cases, the possibility of severe side effects of in vivo provocations can sometimes also limit diagnostic evaluations. In the current article, we discuss the diagnosis and management of patients suffering from mastocytosis and concomitant MCAS, with special emphasis on novel diagnostic tests and management, including allergen microarrays, recombinant allergen analysis, basophil activation tests, optimal prophylaxis, and specific therapies.

show abstract

Hymenoptera venom-induced anaphylaxis and hereditary alpha-tryptasemia

Cited by 37 publications

References 65 publications

Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine

Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine

Mediator-Related Symptoms and Anaphylaxis in Children with Mastocytosis

A Challenge for Allergologist: Application of Allergy Diagnostic Methods in Mast Cell Disorders

Contact Info

Product

Resources

About