Mastocytosis treatments

While managing daily and episodic symptoms can be challenging, the majority of patients with mastocytosis maintain a good quality of life with appropriate medical care, medications and lifestyle adjustments.^8,9 Treatment is always tailored to address individual patient needs, and varies depending on the subtype and severity of the disease.^13,52 First-line therapies such as antihistamines and mast cell stabilisers, aim to relieve mast cell mediator-related symptoms and prevent anaphylaxis.¹³ In cases with higher disease burden or more advanced forms of mastocytosis, additional treatment options may be used to protect organ function and help prevent further disease progression.¹³ These can include targeted therapies, stem cell transplantation or chemotherapy, depending on the patient’s clinical profile.²⁶

Once diagnosed patients should receive personalised treatment from qualified specialists, who can also provide guidance to the patient’s primary healthcare providers on monitoring and management approaches between specialist reviews.^2,13,41

Medications

Mastocytosis is a complex condition requiring clinical oversight for all forms of treatment, including over-the-counter medications. While many patients can manage symptoms with antihistamines and other supportive therapies, those with more advanced or treatment-resistant disease may require targeted therapy, immunomodulatory treatment, chemotherapy or stem cell transplantation. Treatment should always be personalised and guided by a qualified specialist.^13,32

If mastocytosis is diagnosed or suspected by a general practitioner or another non-specialist, referral to a treating specialist is critical to establish appropriate treatment planning, medication trials and titration. Please contact TAMS for a list of specialists in your state or territory.

Note: Some medications mentioned below are not commercially available in Australia or Aotearoa New Zealand. If you have been prescribed a medication which is not commercially available please visit our list of local compounding pharmacies, and alternative government access pathways that may be available to pursue with the support of a treating specialist (coming soon).

Paediatric management

In children, pharmacological treatment is often minimal. When needed, sedating or non-sedating H1-antihistamines may help manage skin symptoms. In moderate-to-severe gastrointestinal or systemic cases, mast cell stabilisers such as sodium cromoglycate or leukotriene receptor antagonists may be considered. Topical sodium cromoglicate may assist with skin lesion irritation and itch, corticosteroids may also be utilised to reduce inflammation and the size of skin lesions. Most paediatric cases improve over time and do not require long-term medication.^53,54

Adult-onset or systemic disease

In adults, particularly those with systemic mastocytosis, treatment is often ongoing and multifaceted.⁵⁵ First-line therapy generally includes H1- and H2-antihistamines to control allergic-type and gastrointestinal symptoms.¹³ Additional medications may include mast cell stabilisers (e.g. sodium cromoglycate), antihistaminic agents such as ketotifen, leukotriene receptor antagonists and proton pump inhibitors (for short periods).²⁶ Topical sodium cromoglicate and corticosteroids may also be used for cutaneous involvement, and short courses of oral corticosteroids may be considered during severe flares.^26,56 For some patients, physician-directed low-dose aspirin therapy may also help manage symptoms related to prostaglandin excess, such as flushing, bone pain or cognitive disturbances.^26,55 However, aspirin and other non-steroidal anti-inflammatory drugs (NSAIDs) can cause adverse reactions in some patients or otherwise require exclusion. This treatment should only be directed by a specialist.⁵⁵

Monoclonal antibody therapy such as omalizumab (Xolair) may be used at specialists’ discretion in cases where adults are experiencing frequent anaphylaxis or severe multisystem symptoms not adequately controlled by standard therapies.^26,57,58 In some cases it may help reduce the frequency and severity of reactions and improve quality of life.^57,58

Common medications

• H1-antihistamines (e.g. cetirizine, loratadine): Can help relieve itching, flushing, urticaria and other allergic-type symptoms.^13,55
• H2-antihistamines (e.g. famotidine, cimetidine): May manage gastrointestinal symptoms such as reflux and abdominal pain.^13,55
• Ketotifen (H1 + mast cell stabiliser properties): May assist with symptoms such as itching, ocular irritation, flushing and other systemic symptoms.^55,59
• Mast cell stabilisers (e.g. sodium cromoglycate): Can help prevent mast cell degranulation and reduce gastrointestinal or systemic symptoms.^26,37,59
• Leukotriene receptor antagonists (e.g. montelukast): May assist with bronchospasm, flushing and inflammation.^26,55
• Proton pump inhibitors (e.g. omeprazole, esomeprazole): May address acid reflux and mast cell–mediator-related gastritis.⁵⁵ Ongoing use should always be guided by specialists.
• Topical corticosteroids: Can be used to reduce inflammation and the size of skin lesions.^26,55,56
• Oral corticosteroids: Occasionally prescribed for short-term management of severe systemic flares.^26,55
• Non-steroidal anti-inflammatory drugs (e.g. aspirin therapy): May be used to address prostaglandin-related symptoms such as flushing, bone pain, or brain fog.^26,55
• Epinephrine auto-injectors (e.g. Anapen, EpiPen): Prescribed to patients at risk of anaphylaxis, especially adults with systemic involvement or venom allergy.^13,55
• Monoclonal antibodies (e.g. omalizumab/xolair): May help reduce the frequency and severity of flares in adults with recurrent anaphylaxis and severe skin involvement.^26,55,57,58
• Ultraviolet (UV) light therapy: Occasionally used to manage persistent cutaneous symptoms, typically under dermatology guidance.^{55,60,61,62,63}

Note: In patients with mastocytosis and HVA (known as a “combined MCAD”) venom immunotherapy is also typically recommended for extended periods or life-long to reduce the risk of anaphylaxis induced fatality.⁶⁴

Therapies for treatment resistant and advanced disease

Typically introduced under the care of a haematologist or oncologist for advanced systemic mastocytosis, mast cell leukemia, or related mast cell neoplasms.

• Targeted therapies (e.g. midostaurin, dasatinib, imatinib): Used in advanced systemic mastocytosis and mast cell leukemia to inhibit abnormal mast cell growth driven by c-kit mutations.^26,65,66
• Chemotherapy (e.g. cladribine): May be considered in rare cases involving aggressive systemic mastocytosis or mast cell leukemia, especially when there is rapid progression or poor response to other therapies.^26,67
• Stem cell transplantation: A high-risk treatment reserved for carefully selected, treatment-refractory cases such as advanced systemic mastocytosis or mast cell leukemia.^26,62,66 Not used frequently, given inconsistent results and significant associated risks.²⁶
• Interferon-alpha: Rarely used, but may be considered in selected cases when other therapies are unsuitable or ineffective. Unfortunately, toxicity is a major concern in this treatment.^13,26,68

Learn about current and recently concluded clinical trials for mastocytosis. 

More mastocytosis information

• Mastocytosis overview
• Mastocytosis symptoms
• Mastocytosis testing
• Mastocytosis triggers
• Mastocytosis treatments
• Mastocytosis supportive care, quality of life and managing side effects
• Mastocytosis FAQ
• Paediatric mastocytosis

Citations

• Mastocytosis citations