Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Diagnosis
Hypophosphatasia
Major criteria
Minor criteria
Journal
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
ISSN: 1433-2965
Titre abrégé: Osteoporos Int
Pays: England
ID NLM: 9100105
Informations de publication
Date de publication:
Mar 2024
Mar 2024
Historique:
received:
29
12
2022
accepted:
23
06
2023
medline:
15
2
2024
pubmed:
20
11
2023
entrez:
20
11
2023
Statut:
ppublish
Résumé
This manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypophosphatasia (HPP). The diagnosis of HPP is made on the basis of integrating clinical features, laboratory profile, radiographic features of the condition, and DNA analysis identifying the presence of a pathogenic variant of the tissue nonspecific alkaline phosphatase gene (ALPL). Often, the diagnosis of HPP is significantly delayed in both adults and children, and updated diagnostic criteria are required to keep pace with our evolving understanding regarding the relationship between ALPL genotype and associated HPP clinical features. An International Working Group (IWG) on HPP was formed, comprised of a multidisciplinary team of experts from Europe and North America with expertise in the diagnosis and management of patients with HPP. Methodologists (Romina Brignardello-Petersen and Gordon Guyatt) and their team supported the IWG and conducted systematic reviews following the GRADE methodology, and this provided the basis for the recommendations. The IWG completed systematic reviews of the literature, including case reports and expert opinion papers describing the phenotype of patients with HPP. The published data are largely retrospective and include a relatively small number of patients with this rare condition. It is anticipated that further knowledge will lead to improvement in the quality of genotype-phenotype reporting in this condition. Following consensus meetings, agreement was reached regarding the major and minor criteria that can assist in establishing a clinical diagnosis of HPP in adults and children.
Sections du résumé
BACKGROUND
BACKGROUND
This manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypophosphatasia (HPP). The diagnosis of HPP is made on the basis of integrating clinical features, laboratory profile, radiographic features of the condition, and DNA analysis identifying the presence of a pathogenic variant of the tissue nonspecific alkaline phosphatase gene (ALPL). Often, the diagnosis of HPP is significantly delayed in both adults and children, and updated diagnostic criteria are required to keep pace with our evolving understanding regarding the relationship between ALPL genotype and associated HPP clinical features.
METHODS
METHODS
An International Working Group (IWG) on HPP was formed, comprised of a multidisciplinary team of experts from Europe and North America with expertise in the diagnosis and management of patients with HPP. Methodologists (Romina Brignardello-Petersen and Gordon Guyatt) and their team supported the IWG and conducted systematic reviews following the GRADE methodology, and this provided the basis for the recommendations.
RESULTS
RESULTS
The IWG completed systematic reviews of the literature, including case reports and expert opinion papers describing the phenotype of patients with HPP. The published data are largely retrospective and include a relatively small number of patients with this rare condition. It is anticipated that further knowledge will lead to improvement in the quality of genotype-phenotype reporting in this condition.
CONCLUSION
CONCLUSIONS
Following consensus meetings, agreement was reached regarding the major and minor criteria that can assist in establishing a clinical diagnosis of HPP in adults and children.
Identifiants
pubmed: 37982857
doi: 10.1007/s00198-023-06844-1
pii: 10.1007/s00198-023-06844-1
pmc: PMC10866785
doi:
Substances chimiques
Alkaline Phosphatase
EC 3.1.3.1
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
431-438Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2023. Crown.
Références
Khan AA et al (2019) Hypophosphatasia: Canadian update on diagnosis and management. Osteoporos Int 30(9):1713–1722
pubmed: 30915507
doi: 10.1007/s00198-019-04921-y
Bianchi ML et al (2020) Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment. Osteoporos Int 31(8):1445–1460
pubmed: 32162014
doi: 10.1007/s00198-020-05345-9
Whyte MP (2016) Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 12(4):233–246
pubmed: 26893260
doi: 10.1038/nrendo.2016.14
Rockman-Greenberg C (2013) Hypophosphatasia. Pediatr Endocrinol Rev 10(Suppl 2):380–388
pubmed: 23858621
Seefried L et al (2020) Burden of illness in adults with hypophosphatasia: data from the Global Hypophosphatasia Patient Registry. J Bone Miner Res 35(11):2171–2178
pubmed: 32654183
doi: 10.1002/jbmr.4130
Whyte MP (2009) Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res 24(6):1132–1134
pubmed: 19113923
doi: 10.1359/jbmr.081253
Bishop N (2015) Clinical management of hypophosphatasia. Clin Cases Mineral Bone Metab : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases 12(2):170–173
Jemmerson R, Low MG (1987) Phosphatidylinositol anchor of HeLa cell alkaline phosphatase. Biochemistry 26(18):5703–5709
pubmed: 3676279
doi: 10.1021/bi00392a019
Seetharam B, Tiruppathi C, Alpers DH (1987) Hydrophobic interactions of brush border alkaline phosphatases: the role of phosphatidyl inositol. Arch Biochem Biophys 253(1):189–198
pubmed: 3813562
doi: 10.1016/0003-9861(87)90651-5
Le Du MH, Millan JL (2002) Structural evidence of functional divergence in human alkaline phosphatases. J Biol Chem 277(51):49808–49814
pubmed: 12372831
doi: 10.1074/jbc.M207394200
Orimo H (2010) The mechanism of mineralization and the role of alkaline phosphatase in health and disease. J Nippon Med Sch 77(1):4–12
pubmed: 20154452
doi: 10.1272/jnms.77.4
Fedde KN, Whyte MP (1990) Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5’-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study. Am J Hum Genet 47(5):767–775
pubmed: 2220817
pmcid: 1683690
Fedde KN et al (1999) Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. J Bone Miner Res 14(12):2015–2026
pubmed: 10620060
doi: 10.1359/jbmr.1999.14.12.2015
Lei W et al (2013) Alkaline phosphatases contribute to uterine receptivity, implantation, decidualization, and defense against bacterial endotoxin in hamsters. Reproduction 146(5):419–432
pubmed: 23929901
pmcid: 3805369
doi: 10.1530/REP-13-0153
Narisawa S, Yadav MC, Millán JL (2013) In vivo overexpression of tissue-nonspecific alkaline phosphatase increases skeletal mineralization and affects the phosphorylation status of osteopontin. J Bone Miner Res 28(7):1587–1598
pubmed: 23427088
doi: 10.1002/jbmr.1901
Millán JL (2013) The role of phosphatases in the initiation of skeletal mineralization. Calcif Tissue Int 93(4):299–306
pubmed: 23183786
doi: 10.1007/s00223-012-9672-8
Fleisch H, Russell RG, Straumann F (1966) Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis. Nature 212(5065):901–903
pubmed: 4306793
doi: 10.1038/212901a0
Sutton RA et al (2012) “Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia. J Bone Miner Res 27(5):987–994
pubmed: 22322541
doi: 10.1002/jbmr.1565
Bhattacharyya T et al (2016) Hypophosphatasia and the risk of atypical femur fractures: a case-control study. BMC Musculoskelet Disord 17:332
pubmed: 27507156
pmcid: 4977896
doi: 10.1186/s12891-016-1191-8
Wong YW, Low MG (1994) Biosynthesis of glycosylphosphatidylinositol-anchored human placental alkaline phosphatase: evidence for a phospholipase C-sensitive precursor and its post-attachment conversion into a phospholipase C-resistant form. Biochemical journal 301(1):205–209
pubmed: 8037672
pmcid: 1137163
doi: 10.1042/bj3010205
Nosjean O et al (1997) Human tissue non-specific alkaline phosphatases: sugar-moiety-induced enzymic and antigenic modulations and genetic aspects. Biochemical journal 321(2):297–303
pubmed: 9020858
pmcid: 1218068
doi: 10.1042/bj3210297
Colazo JM et al (2019) Neurological symptoms in hypophosphatasia. Osteoporos Int 30(2):469–480
pubmed: 30215116
doi: 10.1007/s00198-018-4691-6
Hofmann C et al (2013) Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia. Bone 55(1):150–157
pubmed: 23454488
doi: 10.1016/j.bone.2013.02.017
Sato M et al (2021) Tissue-nonspecific alkaline phosphatase, a possible mediator of cell maturation: towards a new paradigm. Cells 10(12):3338
pubmed: 34943845
pmcid: 8699127
doi: 10.3390/cells10123338
Whyte MP et al (2015) Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone 75:229–239
pubmed: 25731960
doi: 10.1016/j.bone.2015.02.022
Bowen RA et al (2010) Impact of blood collection devices on clinical chemistry assays. Clin Biochem 43(1–2):4–25
pubmed: 19822139
doi: 10.1016/j.clinbiochem.2009.10.001
Mohri M, Rezapoor H (2009) Effects of heparin, citrate, and EDTA on plasma biochemistry of sheep: comparison with serum. Res Vet Sci 86(1):111–114
pubmed: 18572209
doi: 10.1016/j.rvsc.2008.05.010
Eastell R et al (2011) Effects of denosumab on bone turnover markers in postmenopausal osteoporosis. J Bone Miner Res 26(3):530–537
pubmed: 20839290
doi: 10.1002/jbmr.251
Kruse K et al (1989) Biochemical markers of bone turnover, intact serum parathyroid horn and renal calcium excretion in patients with pseudohypoparathyroidism and hypoparathyroidism before and during vitamin D treatment. Eur J Pediatr 148(6):535–539
pubmed: 2744015
doi: 10.1007/BF00441552
Clarke BL (2014) Bone disease in hypoparathyroidism. Arq Bras Endocrinol Metabol 58(5):545–552
pubmed: 25166046
doi: 10.1590/0004-2730000003399
Lum G (1995) Significance of low serum alkaline phosphatase activity in a predominantly adult male population. Clin Chem 41(4):515–518
pubmed: 7720239
doi: 10.1093/clinchem/41.4.515
Osella G et al (1997) Serum markers of bone and collagen turnover in patients with Cushing’s syndrome and in subjects with adrenal incidentalomas. J Clin Endocrinol Metab 82(10):3303–3307
pubmed: 9329358
Bardin T (1992) Renal osteodystrophy, disorders of vitamin D metabolism, and hypophosphatasia. Curr Opin Rheumatol 4(3):389–393
pubmed: 1599820
doi: 10.1097/00002281-199206000-00018
Siddique A, Kowdley KV (2012) Approach to a patient with elevated serum alkaline phosphatase. Clin Liver Dis 16(2):199–229
pubmed: 22541695
pmcid: 3341633
doi: 10.1016/j.cld.2012.03.012
Lund T et al (2010) Multiple myeloma: changes in serum C-terminal telopeptide of collagen type I and bone-specific alkaline phosphatase can be used in daily practice to detect imminent osteolysis*. Eur J Haematol 84(5):412–420
pubmed: 20070853
pmcid: 2871171
doi: 10.1111/j.1600-0609.2010.01417.x
Shaver WA, Bhatt H, Combes B (1986) Low serum alkaline phosphatase activity in Wilson’s disease. Hepatology 6(5):859–863
pubmed: 3758940
doi: 10.1002/hep.1840060509
Korman JD et al (2008) Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests. Hepatology 48(4):1167–1174
pubmed: 18798336
doi: 10.1002/hep.22446
Yücel D, Dalva K (1992) Effect of in vitro hemolysis on 25 common biochemical tests. Clin Chem 38(4):575–577
pubmed: 1568325
doi: 10.1093/clinchem/38.4.575
Shapiro JR, Lewiecki EM (2017) Hypophosphatasia in adults: clinical assessment and treatment considerations. J Bone Miner Res 32(10):1977–1980
pubmed: 28731215
doi: 10.1002/jbmr.3226
Linglart A, Salles JP (2017) Hypophosphatasia: the contribution of imaging. Arch Pediatr 24(5S2):5S74-5S79
pubmed: 29405937
doi: 10.1016/S0929-693X(18)30019-8
Mannes I et al (2022) Imaging patterns in pediatric hypophosphatasia. Pediatr Radiol 52(5):998–1006
pubmed: 34854966
doi: 10.1007/s00247-021-05232-3
Mornet E (2017) Genetics of hypophosphatasia. Arch Pediatr 24(5):5S51-5S56
pubmed: 29405932
doi: 10.1016/S0929-693X(18)30014-9
Taillandier A et al (2015) Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. Mol Genet Metab 116(3):215–220
pubmed: 26432670
pmcid: 5257278
doi: 10.1016/j.ymgme.2015.09.010
Payne RB (1998) Renal tubular reabsorption of phosphate (TmP/GFR): indications and interpretation. Annal Clin Biochem: international journal of laboratory medicine 35(2):201–206
doi: 10.1177/000456329803500203
Shaker JL et al (2015) Recent developments in osteogenesis imperfecta. F1000Res 4(F1000 Faculty Rev):681
pubmed: 26401268
pmcid: 4566283
doi: 10.12688/f1000research.6398.1
Shapiro JR, Brennen F-S (2014) Chapter 55 - Osteogenesis imperfecta: maintenance of adult bone health. In: Shapiro JR et al (eds) Osteogenesis imperfecta. Academic Press, San Diego, pp 509–518
doi: 10.1016/B978-0-12-397165-4.00055-1
Mornet E (2007) Hypophosphatasia. Orphanet J Rare Dis 2(1):40
pubmed: 17916236
pmcid: 2164941
doi: 10.1186/1750-1172-2-40
Mohn A et al (2011) Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment. Acta Paediatr 100(7):e43–e46
pubmed: 21342251
doi: 10.1111/j.1651-2227.2011.02228.x
Nield LS et al (2006) Rickets: not a disease of the past. Am Fam Physician 74(4):619–626
pubmed: 16939184
Carpenter TO et al (2011) A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res 26(7):1381–1388
pubmed: 21538511
doi: 10.1002/jbmr.340
Reynolds RD et al (1991) Extremely low serum pyridoxal 5′-phosphate in children with familial hypophosphatemic rickets. Am J Clin Nutr 53(3):698–701
pubmed: 2000825
doi: 10.1093/ajcn/53.3.698
Tournis ST et al (2005) Co-existence of X-linked hypophosphatemic rickets (XLH) and primary hyperparathyroidism: case report and review of the literature. J Musculoskelet Neuronal Interact 5(2):150–154
pubmed: 15951631
Kramer K et al (2021) Dental defects in the primary dentition associated with hypophosphatasia from biallelic ALPL mutations. Bone 143:115732
pubmed: 33160095
doi: 10.1016/j.bone.2020.115732