Mastocytosis and Mast Cell Disorders Unit

Expert assessment of mast cell activation disorders and mastocytosis

The Mastocytosis and Mast Cell Disorders Unit at Publio Cordón Memorial Hospital offers a specialist assessment for people presenting with recurrent symptoms consistent with a dysfunction of mast cells, particularly when these episodes affect different organs or cannot be explained by a clear diagnosis.

Mast cells are cells of the immune system that release substances such as histamine in certain situations. When this release occurs excessively or inappropriately, a variety of symptoms may appear, which are sometimes difficult to link to one another, making a specific clinical investigation necessary.

This unit is dedicated to managing complex, often underdiagnosed conditions that require clinical expertise and a structured diagnostic approach.

Recurrent or unexplained symptoms

The unit treats patients who experience repeated episodes of skin, digestive, cardiovascular or respiratory symptoms without a clearly defined cause, as well as people who have suffered severe reactions or anaphylaxis without a clear trigger.

In many cases, these patients have previously been assessed without a conclusive explanation being reached, or have received partial diagnoses that do not account for the full range of symptoms.

An assessment is particularly recommended when symptoms do not fit a typical allergic diagnosis, when they persist despite treatment, or when a mast cell disorder is suspected.

The unit provides a comprehensive and targeted clinical review, with an approach focused on organising the clinical picture and guiding the diagnosis using precise medical criteria.

An individualised approach to mast cell-related diseases

Mast cell disorders comprise a group of conditions in which these cells may become excessively activated — mast cell activation syndrome — or increase in number and accumulate in various tissues, as occurs in mastocytosis.

The unit provides a personalised assessment of conditions such as:

• Mast cell activation syndrome

• Cutaneous mastocytosis and systemic mastocytosis

• Episodes of anaphylaxis with no identified cause

• Persistent elevated levels of tryptase in the blood

• Severe reactions to medicines, food or physical changes

• Conditions consistent with mast cell activation but without a definitive diagnosis

Each case is assessed by considering how the symptoms present, the circumstances in which they are triggered and how they progress over time, with the aim of reaching a clear and well-founded diagnosis.

Accurate diagnosis and decision-making based on clinical assessment

The diagnostic process begins with a specialist consultation during which the patient’s medical history and the pattern of episodes are analysed in detail.

Based on this assessment, the investigation is tailored to the individual and may include:

• Measurement of baseline and episode-related serum tryptase levels

• Analysis of mast cell mediators in blood and urine

• Screening for mutations in the KIT gene in selected cases

• General blood tests and additional investigations as indicated by clinical suspicion

• Skin biopsy where suggestive lesions are present

• Bone marrow examination in patients with suspected systemic mastocytosis

Not all patients require the same type of tests. The approach is tailored to each individual case, prioritising a useful, well-organised and clinically justified investigation.

The integration of clinical and laboratory data enables us to confirm or rule out a mast cell disorder, define its type and distinguish it from other conditions that may present with similar symptoms.

Personalised treatments

Treatment is determined based on the diagnosis, the severity of symptoms and their impact on daily life.

In many patients, the aim is to control the release of mast cell mediators and reduce the occurrence of symptoms. The following may be used for this purpose:

• H1 and H2 antihistamines

• Leukotriene antagonists or other modulatory drugs

• Disodium cromoglicate, particularly for gastrointestinal symptoms

• Identification and management of triggers

In patients with a history of severe reactions, the use of an auto-injectable adrenaline pen is considered and clear guidelines for action are established.

In certain situations, particularly in some forms of mastocytosis, specific treatment targeting the underlying condition may be necessary, always following a specialist assessment.

The treatment plan is adjusted progressively in line with clinical progress.

Clinical follow-up and monitoring of disease progression

Monitoring is a key element in the management of mast cell disorders, as symptoms can vary over time and are influenced by a range of factors.

The unit draws up an individualised follow-up plan aimed at assessing clinical progression, progressively adjusting treatment and identifying the triggers that affect each patient.

Follow-up appointments are tailored to each individual case and enable an analysis of the frequency of episodes, the response to treatment and tolerance to the various therapeutic measures.

This ongoing process is essential for achieving stable control of the condition and reducing the impact of symptoms on daily life.

Specialist care with support and time to explain

From the very first consultation, we take the time needed to explain the diagnostic process, the significance of the clinical findings and the various treatment options.

Each patient understands what is happening, what factors may influence their symptoms and what measures can help manage them in their daily life. Where there are different options, decisions are made jointly, taking into account the clinical situation and management goals.

During follow-up appointments, treatment plans are reviewed, queries are addressed and clear guidance is provided on how to manage any potential episodes.

Providing a realistic understanding of the condition, offering clear information and maintaining a stable framework for follow-up are an essential part of the care model.