マスト細胞の関連

http://www.jacionline.org/article/S0091-6749(14)02927-3/abstract

209

A New Disease Cluster: Mast Cell Activation Syndrome,

Postural Orthostatic Tachycardia Syndrome, and Ehlers-Danlos

Syndrome

Ingrid Cheung, Peter Vadas, MD, PhD; St. Michael’s Hospital, Toronto, ON, Canada.

RATIONALE:

Patients with postural orthostatic tachycardia syndrome (POTS) and hypermobility often describe symptoms suggestive of mast cell activation. Herein, we describe a new, unique phenotype, characterized by the co-segregation of three disorders: POTS, Ehlers Danlos syndrome (EDS) and mast cell activation syndrome (MCAS).

METHODS:

Participants with diagnoses of POTS and EDS were recruited from throughout North America through a patient support group and evaluated by questionnaire and supporting documentation. A formal diagnosis of POTS by a cardiologist included confirmation via tilt-table test. A formal diagnosis of EDS required assessment by a dermatologist, a Beighton score of >= 5/9 and a diagnostic skin biopsy. A questionnaire for MCAS was based on diagnostic criteria and validated symptoms as reported by Akin, Valent and Metcalfe (2010).

RESULTS:

15 participants completed questionnaires with required documentation. All eligible participants were female. 12 of these people had formal diagnoses of POTS (80%), 9 were diagnosed with both POTS and EDS. 6 of 9 patients with both POTS and EDS had validated symptoms of a mast cell disorder (66%), suggestive of MCAS.

CONCLUSIONS:

From these pilot data, it appears that a mast cell disorder may frequently co-segregate with POTS and a collagen disorder such as EDS.