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Systemic Mastocytosis With Decreased Bone Density and Fractures
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Systemic Mastocytosis With Decreased Bone Density and Fractures Christoph Zechner, MD, PhD, and Ugis Gruntmanis, MD
A
65-year-old man presented for evaluation of osteopenia in his lumbar spine and femur (Supplemental Figures 1 and 2, available online at http://www. mayoclinicproceedings.org) associated with multiple nontraumatic fractures including his bilateral humerus (Figure 1, arrows). Skin assessment (Figure 2) revealed numerous erythematous 2 to 5 mm large macules and papules (arrowhead). Affected areas exhibited urticaria on stroking (positive Darier sign; arrow), suggesting cutaneous mastocytosis. Skin biopsy revealed mastocytosis presenting as urticaria pigmentosa. Systemic mastocytosis with bone involvement was considered as a possible etiology for his decreased bone density and fractures. The serum tryptase level was elevated to 33.6 mg/L (normal range, 1.9-13.5 mg/L), and bone marrow biopsy confirmed systemic mastocytosis. Serum calcium, 25-hydroxyvitamin D, parathyroid hormone, and testosterone levels were in the normal range. Further work-up for secondary osteoporosis was negative. Systemic mastocytosis is a rare disease, often complicated by osteopenia (39% prevalence) and osteoporosis (24% prevalence).1 Mast cell infiltration and release of mediators have been implicated in this process.2 A total of 37% of the patients with systemic mastocytosis experience osteoporotic fractures.3 Use of bisphosphonates is the primary treatment for decreased bone density,4 and the addition of
interferon alpha was found to further improve bone density in a small study.5 However, the diagnosis of mastocytosis implies further therapeutic considerations, including drugs for symptom control, cytoreductive therapy for treating aggressive forms of mastocytosis, and an epinephrine pen for handling increased anaphylaxis risk.4 Accordingly, mastocytosis should be in the differential diagnosis for unexplained decrease in bone mineral density/ fractures and skin examination revealing small yellow-tan to reddish-brown macules or papules and Darier sign (Figure 2).
From the Department of Internal Medicine, Division of Endocrinology (C.Z., U.G.), and Department of Pharmacology (C.Z.), University of Texas, Southwestern Medical Center, Dallas.
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FIGURE 2. Image of affected skin on the patient’s back demonstrating Darier sign.
ACKNOWLEDGMENT We thank Dr Robert A. Adler for critical review of the manuscript. SUPPLEMENTAL ONLINE MATERIAL Supplemental material can be found online at http://www.mayoclinicproceedings.org. Grant Support: Dr Zechner’s salary was paid by the National Institutes of Health (training grant no. T32DK007307).
FIGURE 1. Radiographs revealing bilateral humerus fractures (arrows).
Correspondence: Address to Ugis Gruntmanis, MD, Department of Internal Medicine, Division of Endocrinology, University of Texas, Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390 (Ugis.Gruntmanis@ UTSouthwestern.edu).
Mayo Clin Proc. n June 2015;90(6):843-844 n http://dx.doi.org/10.1016/j.mayocp.2014.10.014 www.mayoclinicproceedings.org n ª 2015 Mayo Foundation for Medical Education and Research
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MAYO CLINIC PROCEEDINGS
1. Guillaume N, Desoutter J, Chandesris O, et al. Bone complications of mastocytosis: a link between clinical and biological characteristics. Am J Med. 2013;126(1):75. e1-e7. 2. Chiappetta N, Gruber B. The role of mast cells in osteoporosis. Semin Arthritis Rheum. 2006;36(1):32-36. 3. van der Veer E, van der Goot W, de Monchy JG, KluinNelemans HC, van Doormaal JJ. High prevalence of fractures and osteoporosis in patients with indolent systemic mastocytosis. Allergy. 2012;67(3):431-438. 4. Pardanani A. Systemic mastocytosis in adults: 2013 update on diagnosis, risk stratification, and management. Am J Hematol. 2013;88(7):612-624. 5. Laroche M, Livideanu C, Paul C, Cantagrel A. Interferon alpha and pamidronate in osteoporosis with fracture secondary to mastocytosis. Am J Med. 2011;124(8):776-778.
844
Mayo Clin Proc.
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CORRECTION The Original Article entitled, “Correlation of Geomagnetic Activity With Implantable Cardioverter Defibrillator Shocks and Antitachycardia Pacing,” published in the February 2015 issue of Mayo Clinic Proceedings (Mayo Clin Proc. 2015;90(2):202-208), was missing funding information. It was funded on a National Institutes of Health training grant T32 HL007111.
June 2015;90(6):843-844
http://dx.doi.org/10.1016/j.mayocp.2015.04.015
n
http://dx.doi.org/10.1016/j.mayocp.2015.04.015 www.mayoclinicproceedings.org
Systemic Mastocytosis With Decreased Bone Density and Fractures Christoph Zechner, MD, PhD, and Ugis Gruntmanis, MD
A
65-year-old man presented for evaluation of osteopenia in his lumbar spine and femur (Supplemental Figures 1 and 2, available online at http://www. mayoclinicproceedings.org) associated with multiple nontraumatic fractures including his bilateral humerus (Figure 1, arrows). Skin assessment (Figure 2) revealed numerous erythematous 2 to 5 mm large macules and papules (arrowhead). Affected areas exhibited urticaria on stroking (positive Darier sign; arrow), suggesting cutaneous mastocytosis. Skin biopsy revealed mastocytosis presenting as urticaria pigmentosa. Systemic mastocytosis with bone involvement was considered as a possible etiology for his decreased bone density and fractures. The serum tryptase level was elevated to 33.6 mg/L (normal range, 1.9-13.5 mg/L), and bone marrow biopsy confirmed systemic mastocytosis. Serum calcium, 25-hydroxyvitamin D, parathyroid hormone, and testosterone levels were in the normal range. Further work-up for secondary osteoporosis was negative. Systemic mastocytosis is a rare disease, often complicated by osteopenia (39% prevalence) and osteoporosis (24% prevalence).1 Mast cell infiltration and release of mediators have been implicated in this process.2 A total of 37% of the patients with systemic mastocytosis experience osteoporotic fractures.3 Use of bisphosphonates is the primary treatment for decreased bone density,4 and the addition of
interferon alpha was found to further improve bone density in a small study.5 However, the diagnosis of mastocytosis implies further therapeutic considerations, including drugs for symptom control, cytoreductive therapy for treating aggressive forms of mastocytosis, and an epinephrine pen for handling increased anaphylaxis risk.4 Accordingly, mastocytosis should be in the differential diagnosis for unexplained decrease in bone mineral density/ fractures and skin examination revealing small yellow-tan to reddish-brown macules or papules and Darier sign (Figure 2).
From the Department of Internal Medicine, Division of Endocrinology (C.Z., U.G.), and Department of Pharmacology (C.Z.), University of Texas, Southwestern Medical Center, Dallas.
Scan code to view additional images
FIGURE 2. Image of affected skin on the patient’s back demonstrating Darier sign.
ACKNOWLEDGMENT We thank Dr Robert A. Adler for critical review of the manuscript. SUPPLEMENTAL ONLINE MATERIAL Supplemental material can be found online at http://www.mayoclinicproceedings.org. Grant Support: Dr Zechner’s salary was paid by the National Institutes of Health (training grant no. T32DK007307).
FIGURE 1. Radiographs revealing bilateral humerus fractures (arrows).
Correspondence: Address to Ugis Gruntmanis, MD, Department of Internal Medicine, Division of Endocrinology, University of Texas, Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390 (Ugis.Gruntmanis@ UTSouthwestern.edu).
Mayo Clin Proc. n June 2015;90(6):843-844 n http://dx.doi.org/10.1016/j.mayocp.2014.10.014 www.mayoclinicproceedings.org n ª 2015 Mayo Foundation for Medical Education and Research
843
MAYO CLINIC PROCEEDINGS
1. Guillaume N, Desoutter J, Chandesris O, et al. Bone complications of mastocytosis: a link between clinical and biological characteristics. Am J Med. 2013;126(1):75. e1-e7. 2. Chiappetta N, Gruber B. The role of mast cells in osteoporosis. Semin Arthritis Rheum. 2006;36(1):32-36. 3. van der Veer E, van der Goot W, de Monchy JG, KluinNelemans HC, van Doormaal JJ. High prevalence of fractures and osteoporosis in patients with indolent systemic mastocytosis. Allergy. 2012;67(3):431-438. 4. Pardanani A. Systemic mastocytosis in adults: 2013 update on diagnosis, risk stratification, and management. Am J Hematol. 2013;88(7):612-624. 5. Laroche M, Livideanu C, Paul C, Cantagrel A. Interferon alpha and pamidronate in osteoporosis with fracture secondary to mastocytosis. Am J Med. 2011;124(8):776-778.
844
Mayo Clin Proc.
n
CORRECTION The Original Article entitled, “Correlation of Geomagnetic Activity With Implantable Cardioverter Defibrillator Shocks and Antitachycardia Pacing,” published in the February 2015 issue of Mayo Clinic Proceedings (Mayo Clin Proc. 2015;90(2):202-208), was missing funding information. It was funded on a National Institutes of Health training grant T32 HL007111.
June 2015;90(6):843-844
http://dx.doi.org/10.1016/j.mayocp.2015.04.015
n
http://dx.doi.org/10.1016/j.mayocp.2015.04.015 www.mayoclinicproceedings.org