Crystal Deposition in Hypophosphatasia: a Reappraisal

Overview

Journal Ann Rheum Dis

Specialty Rheumatology

Date 1989 Jul 1

PMID 2549888

Citations 21

Authors

A J Chuck

M G Pattrick

E Hamilton

R Wilson

M Doherty

Affiliations

Soon will be listed here.

Abstract

Six subjects (three female, three male; age range 38-85 years) with adult onset hypophosphatasia are described. Three presented atypically with calcific periarthritis (due to apatite) in the absence of osteopenia; two had classical presentation with osteopenic fracture; and one was the asymptomatic father of one of the patients with calcific periarthritis. All three subjects over age 70 had isolated polyarticular chondrocalcinosis due to calcium pyrophosphate dihydrate crystal deposition; four of the six had spinal hyperostosis, extensive in two (Forestier's disease). The apparent paradoxical association of hypophosphatasia with calcific periarthritis and spinal hyperostosis is discussed in relation to the known effects of inorganic pyrophosphate on apatite crystal nucleation and growth.

Citing Articles

Adult hypophosphatasia presenting with recurrent acute joint pain.

Yoshida H, Murakami T, Ogawa A, Sunouchi T, Hidaka N, Ito N Endocrinol Diabetes Metab Case Rep. 2025; 2025(1).

PMID: 39868560 PMC: 11811822. DOI: 10.1530/EDM-24-0121.

Prevalence of chondrocalcinosis and calcium pyrophosphate deposition disease in a cohort of adult patients with low alkaline phosphatase levels and a positive versus negative genetic study.

Tornero C, De Miguel E, Navarro-Compan V, Balsa A, Aguado P JBMR Plus. 2024; 8(11):ziae124.

PMID: 39450343 PMC: 11499678. DOI: 10.1093/jbmrpl/ziae124.

Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia.

Kim S, Korkmaz F, Sims S, Ryu V, Yuen T, Zaidi M Osteoporos Sarcopenia. 2024; 9(4):115-120.

PMID: 38374822 PMC: 10874721. DOI: 10.1016/j.afos.2023.12.003.

Hypophosphatasia: presentation and response to asfotase alfa.

Alsarraf F, Ali D, Almonaei K, Al-Alwani H, Khan A, Brandi M Osteoporos Int. 2023; 35(4):717-725.

PMID: 37993691 DOI: 10.1007/s00198-023-06943-z.

Hypophosphatasia: from birth to adulthood.

Reis F, Lazaretti-Castro M Arch Endocrinol Metab. 2023; 67(5):e000626.

PMID: 37249457 PMC: 10665056. DOI: 10.20945/2359-3997000000626.

References

Russell R, BISAZ S, Donath A, MORGAN D, Fleisch H . Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone. J Clin Invest. 1971; 50(5):961-9. PMC: 292015. DOI: 10.1172/JCI106589. View

Schumacher Jr H, Bonner H, Thompson J, Kester W, Benner 4th J . Tumor-like soft tissue swelling of the distal phalanx due to calcium pyrophosphate dihydrate crystal deposition. Arthritis Rheum. 1984; 27(12):1428-32. DOI: 10.1002/art.1780271215. View

Resnick D, SHAUL S, Robins J . Diffuse idiopathic skeletal hyperostosis (DISH): Forestier's disease with extraspinal manifestations. Radiology. 1975; 115(3):513-24. DOI: 10.1148/15.3.513. View

Russell R, Fleisch H . Pyrophosphate and diphosphonates in skeletal metabolism. Physiological, clinical and therapeutic aspects. Clin Orthop Relat Res. 1975; (108):241-63. DOI: 10.1097/00003086-197505000-00038. View

RUNEBERG L, Collan Y, Jokinen E, Lahdevirta J, Aro A . Hypomagnesemia due to renal disease of unknown etiology. Am J Med. 1975; 59(6):873-81. DOI: 10.1016/0002-9343(75)90481-7. View

Hsu H, Anderson H . The deposition of calcium pyrophosphate and phosphate by matrix vesicles isolated from fetal bovine epiphyseal cartilage. Calcif Tissue Int. 1984; 36(5):615-21. DOI: 10.1007/BF02405376. View

Einhorn T, Gordon S, SIEGEL S, Hummel C, Avitable M, Carty R . Matrix vesicle enzymes in human osteoarthritis. J Orthop Res. 1985; 3(2):160-9. DOI: 10.1002/jor.1100030205. View

Doherty M, Dieppe P . Crystal deposition disease in the elderly. Clin Rheum Dis. 1986; 12(1):97-116. View

Macfarlane J, Kroon H, Cats A . Ectopic calcification in hypophosphatasia. Eur J Radiol. 1986; 6(3):228-30. View

10.

Pinquier J, Awada H, Delrieu F, Amor B . [Isolated chondrocalcinosis manifesting as hypophosphatasia in adults. 2 cases and review of the literature]. Rev Rhum Mal Osteoartic. 1987; 54(6):501-4. View

11.

Fleisch H, BISAZ S . Isolation from urine of pyrophosphate, a calcification inhibitor. Am J Physiol. 1962; 203:671-5. DOI: 10.1152/ajplegacy.1962.203.4.671. View

12.

Forestier J, Lagier R . Ankylosing hyperostosis of the spine. Clin Orthop Relat Res. 1971; 74:65-83. View

13.

ODuffy J . Hypophosphatasia associated with calcium pyrophosphate dihydrate deposits in cartilage. Report of a case. Arthritis Rheum. 1970; 13(4):381-8. DOI: 10.1002/art.1780130404. View

14.

Atkins C, McIvor J, Smith P, Hamilton E, Williams R . Chondrocalcinosis and arthropathy: studies in haemochromatosis and in idiopathic chondrocalcinosis. Q J Med. 1970; 39(153):71-82. View

15.

Dodds W, STEINBACH H . Primary hyperparathyroidism and articular cartilage calcification. Am J Roentgenol Radium Ther Nucl Med. 1968; 104(4):884-92. DOI: 10.2214/ajr.104.4.884. View

16.

Fernley H, Walker P . Studies on alkaline phosphatase. Inhibition by phosphate derivatives and the substrate specificity. Biochem J. 1967; 104(3):1011-8. PMC: 1271245. DOI: 10.1042/bj1041011. View

17.

Fleisch H, STRAUMANN F, Schenk R, BISAZ S, ALLGOWER M . Effect of condensed phosphates on calcification of chick embryo femurs in tissue culture. Am J Physiol. 1966; 211(3):821-5. DOI: 10.1152/ajplegacy.1966.211.3.821. View

18.

PIMSTONE B, Eisenberg E, Silverman S . Hypophosphatasia: genetic and dental studies. Ann Intern Med. 1966; 65(4):722-9. DOI: 10.7326/0003-4819-65-4-722. View

19.

Gerster J, BAUD C, Lagier R, Boussina I, Fallet G . Tendon calcifications in chondrocalcinosis. A clinical, radiologic, histologic, and crystallographic study. Arthritis Rheum. 1977; 20(2):717-22. DOI: 10.1002/art.1780200212. View

20.

Russell R . Metabolism of inorganic pyrophosphate (PPi). Arthritis Rheum. 1976; 19 Suppl 3:465-78. DOI: 10.1002/1529-0131(197605/06)19:3+<465::aid-art1780190722>3.0.co;2-#. View