Endocrine Abstracts

Introduction: Systemic mastocytosis is a form of mastocytosis in which mast cells accumulate in tissues and organs such as liver, spleen, bone and small intestines. Symptoms and signs differ based on which parts of the body are affected and vary from asymptomatic forms to highly aggresive forms with low survival rate. About 16% of patients with systemic mastocytosis have symptomatic fractures, but the presentation of systemic mastocytosis with vertebral fractures as first clinical sign in young men is rare.

Case report: A 37-year old man presented to endocrinology department after being diagnosed with two vertebral fractures (T6, T8) as a consequence of lifting an object weighing 10 kg. He was treated conservatively by the orthopedic surgeon. After endocrinological evaluation, osteoporosis was confimed by measurement of bone mineral density, with a T-score of −3.7 S.D. and a Z-score of −3.7 S.D. at lumbar spine. All hormonal tests for secondary osteoporosis were normal, but the level of serum tryptase was elevated. The patient was referred to the hematology department, where bone marrow biopsy and KIT D816V mutation test confirmed the diagnosis of systemic mastocytosis.

Conclusion: Non-traumatic vertebral fractures in apparently healthy young adults should raise the suspicion of an underlying pathology. Early identification and treatment of systemic mastocytosis could delay the progression of disease and prevent sequelae.