Co-Chair, The UK Mastocytosis Support Group
Mastocytosis may present as a skin condition – but patients with the disease are at increased risk of anaphylaxis, while its systemic form can be serious and, in some cases, fatal.
When she was 15, Emma Morgan noticed a small lesion on her leg. Initially, she was diagnosed with a skin condition, but soon began experiencing fatigue, nausea and bone pain and her lesions multiplied.
It was only years later, after a chance referral to a haematologist and a bone marrow biopsy, that Emma was finally diagnosed with mastocytosis, a rare disease which, depending on its severity, can be relatively benign, disabling, or even fatal.
It’s vital that patients with mastocytosis receive a quick diagnosis, because they are at increased risk of anaphylaxis, which can be life-threatening.
In mastocytosis, mast cells – allergy-related cells in the immune system – proliferate and accumulate in one or more organ. In cutaneous mastocytosis, this is limited to the skin; but in systemic mastocytosis, mast cell accumulation can affect, for example, the gastrointestinal tract, lymph nodes, liver and spleen, and bones. Emma was diagnosed with the indolent – or slow-growing – form of systemic mastocytosis, where the burden is chronic and episodic but life expectancy is normal (the aggressive systemic condition can have a poor prognosis). While most children are diagnosed with cutaneous mastocytosis, most adults develop the systemic disease.
Mastocytosis patients must carry EpiPens at all times
Looking back, Emma is amazed that there is so little understanding of mastocytosis among the medical profession. “It was only because my haematologist knew about it that diagnosis was confirmed,” she says. “It’s a disease which has dramatically affected my life. Sometimes it is more manageable. At other times I can’t even walk upstairs without pain.” She takes medication to try to reduce symptoms, but knows there’s no cure. She estimates she now has thousands of lesions across her body.
It’s vital that patients with mastocytosis receive a quick diagnosis, because they are at increased risk of anaphylaxis, which can be life-threatening, says Jess Hobart, Co-Chair of The UK Mastocytosis Support Group. “So, it’s essential they carry two EpiPens with them at all times,” she says.
Jess agrees with Emma that there needs to be more joined up clinical thinking for better patient outcomes. “For example, we often find that patients who present to a dermatologist aren’t asked if they have mastocytosis symptoms such as cramping, diarrhoea, too much stomach acid, or if their bones hurt. Clinicians need to think about all of the body and not just their specialist areas.”