Osteoporosis as the sole manifestation of systemic mastocytosis in a young man

Jessica D. Abramowitz, Stuart A. Weinerman

Research output: Contribution to journalReview article

3 Citations (Scopus)

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. Conclusion: 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.

Original languageEnglish (US)
JournalEndocrine Practice
Volume18
Issue number6
DOIs
StatePublished - Nov 1 2012

Fingerprint

Systemic Mastocytosis
Osteoporosis
Reference Values
Weight Lifting
Mastocytosis
Compression Fractures
Tryptases
Femur Neck
Back Pain
Phosphorus
Histamine
Hydrocortisone
Testosterone
Hip
Creatinine
Thyroid Gland
Spine
Bone Marrow
X-Rays
Calcium

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Osteoporosis as the sole manifestation of systemic mastocytosis in a young man. / Abramowitz, Jessica D.; Weinerman, Stuart A.

In: Endocrine Practice, Vol. 18, No. 6, 01.11.2012.

Research output: Contribution to journalReview article

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