E-Poster Presentation 30th Australian and New Zealand Bone and Mineral Society Annual Scientific Meeting 2020

Mastocytosis, an unusual case of osteoporosis. (#99)

Ana Maria Delgado Lucio 1
  1. Endocrinology and Nutrition, Spain

Introduction:

Osteoporosis is defined as a systemic skeletal disorder characterized by low bone mass and damage to the bone tissue microarchitecture, with the consequent increase in bone fragility and increased susceptibility to fractures. It is usually classified as primary (postmenopausal/senile/idiopathic) and secondary. In this review we will treat, from a clinical case, systemic mastocytosis and its impact on bone mineral metabolism.

Clinical case:

A 53-year-old male was sent to medical specialist in 2016 due to multiple nontraumatic vertebral fractures during the last years (D1, D4, D9, D12 and L3). Neither pathological personal history of interest nor chronic treatment. His risk factors for osteoporosis include obesity grade 2 (BMI 36.2) and smoking habit (Pack Years Index 2,5). Patient provides bone densitometry with a spine T-score of -3.7 DS and -2.6 DS at the femoral neck. We completed the study of secondary endocrinological causes, discarding dysfunction in the adrenal, thyroid, parathyroid, pituitary, gonadal, diabetes mellitus, as well as malabsorptive origin. We start treatment with bisphosphonates associated with calcifediol as well as exercise recommendations.

During the ambulatory follow-up, he refers monthly evening episodes of erythema located in the forehead and ears. It accompanies with a heat sensation that lasts several hours, this nuisance released with Ibuprofen. Given the suspicion of a vasodilator substances mediated disorder, a study is conducted towards a possible neuroendocrine tumor which is negative. Suspecting a hematological cause, serum tryptase is requested, which is high, completing a study through bone marrow biopsy resulting in systemic mastocytosis. Nowadays, after treatment, the patient has a good densitometric and clinical evolution in the follow-up.

Conclusions:

1-Mastocytosis is an uncommon entity with abnormal cell proliferation from stem cells (CD34 +). 70% of cases cause bone damage due to the release of histamine, heparin and prostaglandins.

2-The low prevalence of this entity derives in the difficulty of its diagnostic.  It’s very important a detailed clinical history and examination for the screening of secondary causes of osteoporosis.

3-A right diagnostic allows us to start a targeted treatment on time, improve bone architecture and reduce its impact on quality of life.