Mast cell disease difficult to treat

Many patients with mast cell disease, a rare disorder that affects fewer than 200,000 people in the U.S., report difficulty getting health insurance, which can affect their treatment and sometimes lead to death.

Mast cell disease is a broad term that includes several disorders in which mast cells, a type of white blood cell that is part of the body's immune system, are aberrated.

For most people, when mast cells sense a change in environment, the cells react to stabilize the body. They might sneeze or have watery eyes in response to stimuli, for example.

Someone with a mast cell disorder might produce too many mast cells to react to irritants, or the cells may overreact to stimuli such as dust, perfume, red dye, certain foods or even stress. The person's throat might close up, or they might exhibit other severe physical reactions, according to a study from the BioTechnology Institute in Minnesota.

Experts disagree over what treatments are most effective. The use of chemotherapy to fight the buildup of mast cells is particularly controversial, said Lisa Klimas, a scientist and advocate for people with mast cell disorders, who has studied mast cell diseases for four years.

Klimas, who has a mast cell disease, lists on her website MastAttack that antihistamines, aspirin, mast cell stabilizers and sometimes chemotherapy are a few of the treatments for mast cell disorders.

But treatment for mast cell disorders is complex, and can vary from patient to patient, said Ariella Cohen, media relations chairman for the Mastocytosis Society.

This complicates insurance claims, Cohen said. Cohen has worked with the society for two years and was diagnosed with mast cell activation syndrome in 2002.

Studies indicate that a person with a diagnosis of the most serious of mast cell diseases can die within six months. A person can live much longer with some of the less-aggressive disorders.

Many deaths are not attributed to mast cell disorders because the sufferers actually die from secondary diseases, Klimas said.

Some illnesses related to mast cell diseases are kidney disease, bipolar affective disorder, fibromyalgia and Pott's disease, studies show.

The federal Centers for Disease Control and Prevention started in 2015 recognizing mast cell diseases, including mast cell activation syndrome, as illnesses that need treatment, although the World Health Organization does not recognize mast cell diseases, unless they become cancerous or become mastocytosis, a buildup of mast cells that can become cancerous, Klimas said.

WHO recognizes the disease in its International Classification of Disease for Oncology when aberrated mast cells form a tumor.

Work on proposals to add mast cell diseases to the ICD-10, a list of the illnesses insurance companies, Medicare and Medicaid will cover, began in 2013, said Valerie Slee, vice chairman for the Mastocytosis Society. The society is a nonprofit that conducts research on the disease and advocates for better care for patients.

Slee was diagnosed with mastocytosis in 1987 and has been a part of the society since 2002. She, along with physicians and experts from the Mayo Clinic and the Mastocytosis Center in Boston, were a part of a committee that wrote the proposals to add mast cell disorders to the ICD-10. The proposals were submitted in 2014 and became code on Oct. 1, 2016, she said.

SundayMonday on 10/15/2017