title: Osteoporosis as the sole manifestation of systemic mastocytosis in a young man.
abstract: OBJECTIVE
  To highlight the difficulty involved in making a diagnosis of systemic mastocytosis (SM) when it manifests solely as osteoporosis.
  
  
  METHODS
  We present a detailed case report and review the literature regarding the work-up of secondary osteoporosis and the diagnosis and treatment of SM. Other cases of SM presenting as osteoporosis in male patients are also described.
  
  
  RESULTS
  A 35-year-old man presented with back pain after weight lifting and was diagnosed with a T7 vertebral compression fracture. A dual-energy x-ray absorptiometry scan resulted in a T-score of -3.2 in the spine and of -1.9 and -2.4 in the hip and femoral neck areas, respectively. Results of standard tests for secondary osteoporosis including calcium, phosphorus, 25-hydroxyvitamin D, kidney and liver function, thyroid function, testosterone level, and midnight salivary cortisol were normal. Further testing revealed a high serum tryptase level of 26.8 μg/L (reference range, <11.4) and elevated urinary histamine at 39.1 μg/g creatinine (reference range, <35). Bone marrow biopsy confirmed the diagnosis of mastocytosis.
  
  
  CONCLUSIONS
  The rare diagnosis of SM is difficult when there is little clinical suspicion and remains a challenge to endocrinologists and other physicians. The condition should be suspected in young male patients with no other obvious cause of osteoporosis.
authors.affiliation: Department of Internal Medicine, Hofstra University, New Hyde Park, New York 11040, USA.
authors.forename: Jessica D
authors.initials: JD
authors.lastname: Abramowitz
authors.forename: Stuart A
authors.initials: SA
authors.lastname: Weinerman
mesh_terms: D015502:Absorptiometry, Photon; D000328:Adult; D019386:Alendronate / Q000627:therapeutic use; D001706:Biopsy; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D001853:Bone Marrow / Q000473:pathology; D006801:Humans; D008297:Male; D034721:Mastocytosis, Systemic / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology; D010024:Osteoporosis / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology*; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging
chemical_list: D050071:Bone Density Conservation Agents; D019386:Alendronate