Mast cells are an important part of our immune system, helping the body respond to potential threats. But when abnormal numbers of these cells build up, or when they become overactive, they can contribute to a surprisingly wide range of symptoms.
Mast cell disorders can be difficult to recognise because their presentation varies considerably between individuals. Symptoms may affect several parts of the body and can appear unrelated, so identifying an explanation may take time.
Conditions such as mastocytosis and mast cell activation syndrome (MCAS) are receiving much more attention today. However, mast cell disease itself is not new. Scientists have been studying mast cells for nearly 150 years. What has changed is how much we know about them and our ability to investigate the conditions associated with them.
With International Mastocytosis & Mast Cell Diseases Awareness Day on 20 October, this is a good opportunity to look at what mast cells do, what can happen when they do not behave as expected, and why we are hearing much more about mast cell disorders today.
Mast cell diseases explained
Mast cells are immune cells found throughout the body. They play an important role in immune and allergic responses, releasing substances such as histamine when activated.
Problems can arise when abnormal numbers of mast cells build up in the body's tissues or when the cells become activated inappropriately.
In mastocytosis, excess mast cells accumulate in the body. There are different forms, including cutaneous mastocytosis, which mainly affects the skin, and systemic mastocytosis, where tissues and organs beyond the skin can be involved.
Mast cell activation syndrome (MCAS) is different. It involves repeated episodes of symptoms associated with mast cell activation and the release of substances known as mast cell mediators. Diagnosis requires careful clinical assessment and supporting evidence of mast cell activation because similar symptoms can occur in many other conditions.
Symptoms associated with mast cell disorders vary widely. They can include flushing, itching, digestive problems and allergic-type reactions. Some people with mastocytosis can experience severe reactions, including anaphylaxis.
Because these symptoms can involve several parts of the body and overlap with other conditions, appropriate medical assessment is important.
Mast cell disease is not new
Although mast cell disorders may seem like a relatively new area of medicine, scientists have known about mast cells since the nineteenth century.
German physician and scientist Paul Ehrlich first described mast cells in 1878. Over the decades that followed, scientists gradually learnt more about these cells and their role in immune and allergic responses.
Today, modern laboratory techniques, molecular testing and more clearly defined diagnostic approaches give healthcare professionals better tools for investigating mast cell disorders.
The history can be summarised clearly:
Mast cell diseases are not new. Our ability to recognise and understand them is much better than it used to be.
Growing awareness of mast cell disorders
Greater awareness has contributed to the increased visibility of mast cell disorders.
People now have much greater access to health information, while healthcare professionals have more sophisticated ways of investigating these conditions.
Our knowledge of systemic mastocytosis, for example, has benefited from advances in molecular medicine and a better understanding of genetic changes associated with the condition.
MCAS has also become much more widely discussed in recent years. Research into its diagnosis and management continues to develop.
However, it is important not to confuse increasing awareness and recognition with evidence that mast cell disorders themselves are suddenly becoming much more common.
Some people may previously have lived with unexplained symptoms for years before receiving an appropriate diagnosis. As medical knowledge and diagnostic approaches improve, conditions that might once have gone unrecognised may be identified more readily.
At the same time, careful diagnosis is essential. Symptoms associated with mast cell activation can occur for many different reasons, and symptoms alone are not enough to establish a diagnosis of MCAS.
Greater awareness should therefore encourage appropriate investigation rather than assumptions about the cause of someone's symptoms.
The importance of individual experiences
One of the striking features of mast cell disorders is how differently they can affect people.
Symptoms, severity, triggers and responses to treatment can vary. One person may be particularly affected by skin symptoms, while another may experience digestive problems or episodes involving several parts of the body.
This is where personalised care becomes particularly important.
Care should take account of the individual’s diagnosis, symptoms, previous responses to medicines and wider clinical needs.
From a pharmacy perspective, personalised care may include selecting an appropriate medicine strength, dosage form or formulation. If an individual has a specific clinical need that cannot be met by a suitable licensed medicine, a prescriber may consider an individually prepared compounded medicine.
Personalisation does not mean that everyone needs a bespoke medicine. It simply means recognising that the most appropriate treatment for one person may not always be the same for another.
Awareness can make a difference
For someone living with difficult-to-explain or difficult-to-manage symptoms, being listened to and appropriately investigated can make a real difference.
Awareness initiatives such as International Mastocytosis & Mast Cell Diseases Awareness Day help bring lesser-known conditions into the conversation and support continued education and research.
We have come a long way since mast cells were first described in the nineteenth century, but there is still more to discover, particularly as knowledge of mast cell activation and related conditions continues to evolve.
Sometimes a condition itself is not new. What changes is our ability to recognise and understand it.
As pharmacists and healthcare professionals, we must continue to listen, learn and consider the individual behind the symptoms.
Raising awareness is important. Turning awareness into better understanding and care is what ultimately makes the greatest difference.
This article is intended for general information and awareness purposes only and does not constitute medical advice. If you are concerned about symptoms or are considering changes to your treatment, please speak to an appropriately qualified healthcare professional.