Clinical and radiographic findings in adults with persistent hypophosphatasemia

Journal of Bone and Mineral Research

Volumn 29, Issue 7, 2014, Pages 1651-1660

  McKiernan, Fergus Eoin ^a   Berg, Richard L ^a   Fuehrer, Jay ^a  

^a MARSHFIELD CLINIC   (United States)

Author keywords

BISPHOSPHONATE; GENERAL POPULATION STUDY; HYPOPHOSPHATASEMIA; HYPOPHOSPHATASIA

Indexed keywords

ALKALINE PHOSPHATASE;

ABNORMALLY LOW SUBSTRATE CONCENTRATION IN BLOOD; ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; ARTHRITIS; ARTICLE; BONE MINERALIZATION; CHONDROCALCINOSIS; CONTROLLED STUDY; ELECTRONIC MEDICAL RECORD; ENTHESOPATHY; FEMALE; HUMAN; HYPOPHOSPHATASEMIA; HYPOPHOSPHATASIA; MAJOR CLINICAL STUDY; MALE; ORTHOPEDIC SURGERY; PERIARTHRITIS; SEX DIFFERENCE; TOOTH DEVELOPMENT; BLOOD; BONE DENSITY; FEMUR; LUMBAR VERTEBRA; PATHOLOGY; RADIOGRAPHY; RISK; STATISTICAL MODEL;

ADULT; ALKALINE PHOSPHATASE; BONE DENSITY; FEMALE; FEMUR; HUMANS; HYPOPHOSPHATASIA; LIKELIHOOD FUNCTIONS; LUMBAR VERTEBRAE; MALE; ODDS RATIO;

EID: 84903288914     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2178     Document Type: Article

References (55)

1. Millán JL., Mammalian alkaline phosphatases: from biology to applications in medicine and biotechnology. Weinheim, Germany: Wiley-VCH Verlag GmbH & Co; 2006.
2. Whyte MP., Hypophosphatasia. In:, Thakker RV, Whyte MP, Eisman J, Igarashi T, editors. Genetics of bone biology and skeletal disease. San Diego: Elsevier (Academic Press); p. 337-60. 2013.
3. McComb RB, Bowers GN, Posen S., Clinical utilization of alkaline phosphatase measurements. In:, McComb RB, Bowers GN, Posen S, editors. Alkaline phosphatase. New York: Plenum Press; p. 525-786. 1979.
4. Lum G., Significance of low alkaline phosphatase activity in a predominantly adult male population. Clin Chem. 1995; 41: 515-8.
5. Macfarlane JD, Souverijn JHM, Breedveld FC., Clinical significance of a low serum alkaline phosphatase. Neth J Med. 1992; 40: 9-14.
6. McKiernan FE, Shrestha L, Berg R, Fuehrer J., Acute hypophosphatasia. Osteoporos Int. 2014; 25: 519-23.
7. Whyte MP., Enzyme defects and the skeleton. In:, Rosen C, editor. Primer on the metabolic bone diseases and disorders of mineral metabolism. 8th ed. Ames: Wiley-Blackwell; p. 838-40. 2013.
8. Mornet E, Hofmann C, Bloch-Zupan A, Girschick H, Le Merrer M., Clinical utility gene card for: hypophosphatasia-update 2013. Eur J Hum Genet. 2013 Aug 7. [Epub ahead of print].
9. Mornet E., Tissue nonspecific alkaline phosphatase gene mutation database [Internet]. Cited 2014 Jan 1. Available from: http://www.sesep.uvsq.fr/03-hypo- mutations.php.
10. Whyte MP, Landt M, Ryan LM, et al. Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal-5-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. J Clin Invest. 1995; 95: 1440-5.
11. Mornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B., A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet. 2011; 75: 439-45.
12. Fraser D., Hypophosphatasia. Am J Med. 1957; 22: 730-46.
13. Whyte MP, Teitelbaum SL, Murphy WA, Bergfeld MA, Avioli LV., Adult hypophosphatasia. Medicine. 1979; 58: 329-47.
14. Weinstein RS, Whyte MP., Heterogeneity of adult hypophosphatasia. Arch Int Med. 1981; 141: 727-31.
15. Whyte MP, Murphy WA, Fallon MD., Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. Am J Med. 1982; 72: 631-41.
16. Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM, Whyte MP., Hypophosphatasia: clinicopathologic comparison of the infantile, childhood and adult forms. Medicine. 1984; 63: 12-24.
17. Eberle F, Hartenfels S, Pralle H, Käbisch A., Adult hypophosphatasia without apparent skeletal disease: odontohypophosphatasia in four heterozygote members of a family. Klinische Wochenschr. 1984; 62: 371-6.
18. Wendling D, Cassou M, Guidet M., L'hypophosphatasie a l'age adulte; a propos de 2 observations. Revue du Rheum. 1985; 52: 43-50.
19. Palmer JA, Relkin R, Wallach S., Adult hypophosphatasia in a geriatric patient. J Am Geriat Soc. 1988; 36: 136-8.
20. Nangaku M, Sato N, Sugano K, Takaku F., Hypophosphatasia in an adult: a case report. Jpn J Med. 1991; 30: 47-52.
21. Khandwala HM, Mumm S, Whyte MP., Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood. Endocrin Pract. 2006; 12: 676-81.
22. Whyte MP, Mumm S, Deal C., Adult hypophosphatasia treated with teriparatide. J Clin Endocrinol Metab. 2007; 92: 1203-8.
23. Whyte MP., Atypical femur fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res. 2009; 24: 1132-4.
24. Gagnon C, Sims NA, Mumm S, et al. Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. J Clin Endocrin Metab. 2010; 95: 1007-12.
25. Schalin-Jäntti C, Mornet E, Lamminen A, Välimäki MJ., Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia. J Clin Endocrin Metab. 2010; 95: 5174-9.
26. Barvencik F, Beil FT, Gebauer M, et al. Skeletal mineralization defects in adult hypophosphatasia-a clinical and histological analysis. Osteoporos Int. 2011; 22: 2667-75.
27. Sutton RA, Mumm S, Coburn SP, Ericson KL, Whyte MP., Atypical femur fractures during bisphosphonate exposure in adult hypophosphatasia. J Bone Miner Res. 2012; 27: 987-94.
28. Berkseth KE, Tebben PJ, Drake MT, Hefferan TE, Jewison DE, Wermers RA., Clinical spectrum of hypophosphatasia diagnosed in adults. Bone. 2013; 54: 21-7.
29. Guañabens N, Mumm S, Möller I, et al. Calcific periarthritis as the only manifestation of hypophosphatasia in middle-aged sisters. J Bone Miner Res. 2013 Oct 4. [Epub ahead of print].
30. Shrestha L, McKiernan F, Berg R, Fuehrer J., Possible hypophosphatasia in personalized medicine research project. J Bone Miner Res. 2011; 26 (Suppl 1).
31. Wilke RA, Berg RL, Peissig P, et al. Use of an electronic medical record for the identification of research subjects with diabetes mellitus. Clin Med Res. 2007; 5: 1-7.
32. DeStefano F, Eaker ED, Broste SK, et al. Epidemiologic research in an integrated regional medical care system: the Marshfield Epidemiologic Study Area. J Clin Epidemiol. 1996; 49: 643-52.
33. Greenlee RT., Measuring disease frequency in the Marshfield Epidemiologic Study Area (MESA). Clin Med Res. 2003; 1: 273-80.
34. McKiernan F, Berg J, Linneman J., Should low BMD Z-scores prompt evaluation for secondary causes of osteoporosis ? Osteoporos Int. 2011; 22: 1069-77.
35. https://www.beckmancoulter.com/wsrportal/bibliography?docname= DxC800-DS-11204A.pdf.
36. Firth D., Bias reduction of maximum likelihood estimates. Biometrika. 1993; 80: 27-38.
37. Heinze G, Schemper M., A solution to the problem of separation in logistic regression. Stat Med. 2002; 21: 2409-19.
38. Nielson CM, Zmuda JM, Carlos AS, et al. Rare coding variants in ALPL are associated with low serum alkaline phosphatase and lower bone mineral density. J Bone Miner Res. 2012; 27: 93-103.
39. Greenspan SL, Emkey RD, Bone HG, Lombardi A, et al. Significant differential effects of alendronate, estrogen, or combination therapy on the rate of bone loss after discontinuation of treatment of postmenopausal osteoporosis. Ann Int Med. 2002; 137: 875-83.
40. Elder G., Pathophysiology and recent advances in the management of renal osteodystrophy. J Bone Miner Res. 2002; 17: 2094-105.
41. Mitrovic DR, Pathology of articular deposition of calcium salts and their relationship to osteoarthrosis. Ann Rheum Dis. 1983; 42: 19-26.
42. Chuck AJ, Pattrick MG, Hamilton E, Wilson R, Doherty M., Crystal deposition in hypophosphatasia: a reappraisal. Ann Rheum Dis. 1989; 48: 571-6.
43. Beck C, Morbach H, Richl P, Stenzel M, Girschick HJ., How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint disease ? Rheumatol Int. 2009; 29: 229-38.
44. Mebarek S, Hamade E, Thouverey C, et al. Ankylosing spondylitis, late osteoarthritis, vascular calcification, chondrocalcinosis and pseudogout: toward a possible drug therapy. Curr Med Chem. 2011; 18: 2196-203.
45. Abhishek A, Doherty M., Pathophysiology of articular chondrocalcinosis- role of ANKH. Nat Rev Rheum. 2011; 7: 96-104.
46. Tsui FWL., Genetics and mechanisms of crystal deposition in calcium pyrophosphate deposition disease. Curr Rheum Rep. 2012; 14: 155-60.
47. Gibbon VE, Harington JS, Penny CB, Fredlund V., Mseleni joint disease: a potential model of epigenetic chondrodysplasia. Joint Bone Spine. 2010; 77: 399-404.
48. Schnitzler CM, Pieczowski WM, Fredlund V, Mesquita JM, Sweet MB, Smit AE., Histomorphometric analysis of osteopenia associated with endemic osteoarthritis (Mseleni joint disease). Bone. 1988; 9: 21-7.
49. Wüster C, Ziegler R., Reduced bone mineral density and low parathyroid hormone levels in patients with the adult form of hypophosphatasia. Clin Invest. 1992; 70: 560-5.
50. Girschick HJ, Schneider P, Kruse K, Huppertz HI., Bone metabolism and bone mineral density in childhood hypophosphatasia. Bone. 1999; 25: 361-7.
51. Girschick HJ, Haubitz I, Hiort O, Schneider P., Long-term follow-up of bone mineral density in childhood hypophosphatasia. Joint Bone Spine. 2007; 74: 263-9.
52. Thomas T, Lafage HM, Alexandre C., Atypical osteomalacia after 2 year etidronate intermittent cycle administration in osteoporosis. J Pediatr. 1984; 22: 2183-5.
53. Whyte MP, McAlister WH, Novack DV, Clements KL, Schoenecker PL, Wenkert D., Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases. J Bone Miner Res. 2008; 23: 1698-707.
54. Otero JE, Gottesman GS, McAlister WH, et al. Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. J Bone Miner Res. 2012; 28: 419-30.
55. Vaisman DN, McCarthy AD, Cortizo AM., Bone-specific alkaline phosphatase activity is inhibited by bisphosphonates: role of divalent cations. Biol Trace Elem Res. 2005; 104: 131-40.