‘Even after diagnosis, patients with systemic mastocytosis are poorly understood.’ - Grace Dunderdale, systemic mastocytosis contributor
Mastocytosis encompasses a class of rare, genetic disorders characterised by an excessive build-up of mast cells, which play an integral role in immune responses.1 Systemic mastocytosis (SM), a subset of mastocytosis disorders, has a prevalence of approximately one in 10,000 people and can affect several sites such as the skin, gastrointestinal tract, bone marrow, lymph nodes and liver.1,2
SM has a heterogeneous clinical picture, ranging from the indolent (which means ‘lazy’) form with a normal life expectancy, to mast cell leukaemia, the highly aggressive form on the opposite end of the spectrum that is associated with organ damage and a shortened survival period of less than six months.1 It is often intriguing that different forms of the same disorder can be so distinct. Patients commonly show a plethora of symptoms including skin lesions, life-threatening anaphylaxis, diarrhoea, dyspnoea and osteopenia.1,3 Notably, SM can often be mistaken as cutaneous mastocytosis (CM), a form of mastocytosis that mainly affects the skin. About 97% of CM patients actually have SM.4
The reality of SM for patients
The debilitating symptoms of SM can have a multifaceted impact on patients’ overall quality of life, regardless of disease severity; in particular, patients report that the distress-causing aspect of this affliction mainly stems from the unpredictability of symptoms.3
SM patients often experience long and rather difficult diagnosis journeys of up to seven years.3 In a recent qualitative study on patients’ experience of the time between symptom onset and receiving a diagnosis, three common themes were identified.5 ‘Having symptoms and signs with an unknown cause’ refers to the uncertainty about the symptoms and triggers, which is frustrating and leads to feelings of anxiety and fear. For most indolent SM patients, skin problems such as rashes and flushes are usually the first visible symptoms to appear, which elicits a negative body perception and unnecessary attention.
‘Dealing with the signs and symptoms’ refers to the different ways patients cope via adaption and self-care. For example, patients strive for various strategies such as dietary changes and avoiding the sun and changes in temperature, which could ironically lead to a delayed diagnosis.
It is perhaps the last theme, ‘being a patient without diagnosis’, which resonates with most SM patients. This highlights the struggle against indifference, as well as the lack of knowledge of SM within healthcare and the general public. This is reflected in the numerous referrals between primary and secondary care physicians before receiving a definitive diagnosis; more than 50% of patients experience three or more visits to GPs within a year.6 Some patients also feel the need to ‘prove’ themselves and shed light on what SM is to healthcare professionals. ‘I think I've handled it pretty well, otherwise I wouldn't be sitting here, if I'd just listened to what healthcare told me, I wouldn't be alive today, that's just the way it is.’ Feelings of embarrassment at having called for an ambulance with no explanation given at the hospital is a common narrative. ‘I just lay down for a while and then it passed. The doctor had said that I should go to the hospital if I had an attack, but I thought it was so embarrassing to call an ambulance. The attack petered out after a while anyway’.
Conclusion
With the advent of novel targeted treatments and multidisciplinary, patient-centred approaches, there is renewed optimism that the well-being and diagnostic odyssey of SM patients can be ameliorated. And every small act is the beginning of the continuous quest to raise awareness of SM.
Here at TVF, we understand unique disease areas and are passionate about creating measurable impact and elevating the voices of rare disease patients. To find out more about what we do, please get in touch.
by Cheryl Kok
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