Hypophosphatasia by Hypophosphatasia(HPP) (HPP)isis aa metabolic metabolic disorder disorder characterized characterized by 11 LOW LOWAlkaline AlkalinePhosphatase Phosphatase (ALP) (ALP) activity activity Patients Patientswith withHPP HPP may may experience experience unpredictable, devastating, devastating,and andlife-limiting life-limiting consequences, consequences, including:11 SHORT SHORTSTATURE STATURE AND/OR AND/ORUNUSUAL UNUSUAL GAIT GAIT PREMATURE PREMATURE TOOTH TOOTHLOSS LOSS • •InInadults, adults,low lowALP ALPactivity activityisis<40 <40U/L U/L2,a2,a MUSCLE MUSCLEWEAKNESS WEAKNESS AND/OR AND/ORFATIGUE FATIGUE CHRONIC CHRONIC MUSCLE/ JOINT PAIN SKELETAL SKELETAL DEFORMITIES AND/ AND/ DEFORMITIES OR FRACTURES FRACTURES OR •• Agein children children3.43.4 Age-and andsex-adjusted sex-adjustedALP ALPreference reference intervals must be used in Patientswith withany any of of these these key key signs/symptoms Patients andLOW LOW ALP ALP should should be be evaluated evaluated for HPP1 and a Example cutoff from Abbott Laboratories; adult ALPranges rangesare arelab labspecific specificand andmay mayvary. vary. Example cutoff from Abbott Laboratories; adult ALP a References: 1. Bishop N, al. et al. Arch Child . 2016;101(6):514-515. Alkalinephosphatase phosphatase[package [packageinsert]. insert].Abbott AbbottPark, Park,IL: IL:Abbott AbbottLaboratories; Laboratories; 2007. 2007. 3. 3. Offiah Offiah AC, AC, et References: 1. Bishop N, et Arch DisDis Child . 2016;101(6):514-515. 2.2.Alkaline et al. al. Pediatr Pediatr Radiol Radiol.. 2019;49(1):3-22. 2019;49(1):3-22. Chem . 2012;58(5):854-868. 4. Colantonio et Clin al. Clin Chem . 2012;58(5):854-868. 4. Colantonio DA,DA, et al. LOWAlkaline AlkalinePhosphatase Phosphatase(ALP) (ALP)may may not not be be flagged flagged ifif your your laboratory laboratory does LOW does not not use use 1 age-and andsex-adjusted sex-adjustedreference referenceintervals intervals in in children children when when testing testing ALP ageALP activity activity1 2,3 Age-and andsex-adjusted sex-adjustedALP ALP reference reference ranges, ranges, U/L U/L2,3 Age- ALP Activity, U/L ALP Activity, U/L 500 500 518 518 400 400 300 300 Males Males 518 518 460 460 369 369 460 460 369 369 517 517 365 365 280 280 273 273 100 100 128 95 128 62 54 9548 62 54 48 164 156 134 156 141 127 164 141 127 134 89 90 59 89 90 59 0 0140 15 d-14 d-15 d <1 d y1- <1 y <1 1 0-< 10 y 10 y -<110 3 -< 13 y 13 y -<113 5 -< 15 y 15 y -<115 7 -< 17 y 17 y -<117 9-<1 y9 y 0 156 141 134156 141 134 90 90 01401 15 d 4 d d-15 <1 d-< y 1 1- 1 y <1 -< 0 10 10 1 y y -<103 <1 13 1 y 3 y -<1 35 <15 15 1 y y -<1 57 <17 17 1 y y -<1 7-< 9 19 y y 273 200 273 200 Age Age 150 150 40 40 Ad A ult dul s a ts a Females Females 600 600 Normal ALP Normal ALP Low ALP in pediatric females and males Low ALP in pediatric females and males Low ALP in adults Low ALP in adults NOTE: Graph adapted from the Canadian Laboratory Initiative on Pediatric Reference Intervals (CALIPER) project. 2 Caliper samples from 1072 male and 1116 female participants (newborn to 18 years) were used to NOTE: Graph ageadapted the Canadian Laboratory on Pediatric Reference Intervals (CALIPER) project. 2 Caliper samples fromshown 1072were maleestablished and 1116 female (newborn to 18 analyzer. years) were used to calculate and from sex-specific reference intervals.Initiative No variation in ALP based on ethnic differences was observed. Reference intervals on theparticipants Abbott ARCHITECT c8000 calculate andprovided sex-specific reference intervals. No variation ALP based sheet on ethnic intervals shown ages, were established Abbott ARCHITECT a Adult ageinterval by the Abbott ARCHITECT ALP productininformation is fordifferences females >15was andobserved. males >20Reference years of age. For younger Abbott does on notthe provide lower limits of c8000 normal.3analyzer. a Adult interval provided by the Abbott ARCHITECT ALP product information sheet is for females >15 and males >20 years of age. For younger ages, Abbott does not provide lower limits of normal.3 LOW Alkaline Phosphatase (ALP) is hallmark of Hypophosphatasia.1 LOW Alkaline Phosphatase (ALP) hallmark of Hypophosphatasia.1 To learn more, please visitiswww.hypophosphatasia.com To learn more, please visit www.hypophosphatasia.com References: 1. Rockman-Greenberg C. Pediatr Endocrinol Rev. 2013;10(2 suppl):380-388. 2. Colantonio DA, et al. Clin Chem. 2012;58(5):854-868. 3. Alkaline1.phosphatase [package insert]. Abbott Park, IL:Rev Abbott Laboratories; 2007. References: Rockman-Greenberg C. Pediatr Endocrinol . 2013;10(2 suppl):380-388. 2. Colantonio DA, et al. Clin Chem. 2012;58(5):854-868. 3. Alkaline phosphatase [package insert]. Abbott Park, IL: Abbott Laboratories; 2007. 2 Please contact Amy.Flinn@alexion.com Please contact to learn more Amy.Flinn@alexion.com information about hypophosphatasia. to learn more information about hypophosphatasia. MISSOURI FAMILY PHYSICIAN October - December 2023 Alexion is a registered trademark of Alexion Pharmaceuticals, Inc. Copyright © 2020, Alexion Pharmaceuticals, Inc. Alexion is a registered trademark of Alexion Pharmaceuticals, Inc. All rights reserved. Copyright © 2020, Alexion Pharmaceuticals, Inc. US/UNB-H/0095 All rights reserved. US/UNB-H/0095