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Mast cell activation disease: Associated with autoimmune thyroid disease: Case report and review of literature

Abstract:

Mast Cell Activation Disease (MCAD) is characterized by abnormal proliferation of mastocytes, where clinical manifestations arise from the excess release of these cells’ mediators. This case report concerns a 34-year old male patient who seeks medical attention after 5 months presenting recurring episodes of intense facial flushing with local edema, erythema, and increased volume of the ears and lips, without signs of angioedema. Other symptoms included burning oropharyngeal pain, vascular-type headache and hypotension. These crises occurred predominantly during nighttime and lasted 20-60 minutes, and were often associated with prolonged exposure to sunlight, high temperatures and psychological stress; constituting a clinical picture compatible with MCAD, supported by laboratory findings. Treatment began with ebastine, deflazacort, montelukast, ranitidine and omega-3 fatty acids, without clinical improvement, leading to substitution of this regimen with sodium chromoglycate and initiation of an immunomodulatory diet. This plan achieved satisfactory symptomatic resolution, confirming the diagnosis and highlighting the importance of adequate pharmacologic intervention. During a control consultation, the patient reported nocturnal episodes of tachycardia, palpitations and anxiety unrelated to the flushing crises, which prompted thyroid evaluation, revealing autoimmune thyroid disease with subclinical hyperthyroidism, which was managed with methimazol without complications.