Microsoft Word - Grech Proof 3-23.docx   Vol  3,  No  1  (2015)   ISSN  2167-­‐8677  (online)   DOI  10.5195/d3000.2015.30           http://dentistry3000.pitt.edu     New  articles  in  this  journal  are  licensed  under  a  Creative  Commons  Attribution  4.0  United  States  License.     This  journal  is  published  by  the  University  Library  System,  University  of  Pittsburgh  as  part  of  its  D-­‐Scribe  Digital  Publishing  Program  and  is  cosponored   by  the  University  of  Pittsburgh  Press.   Chronic  periodontitis  with  familial  aggregation  and  discordant  identi-­‐ cal  twins   Sarah  Chris)na  Grech1     1  University  of  Pittsburgh  School  of  Dental  Medicine,  Pittsburgh  PA,  USA     Abstract   Chronic  periodon,,s   is  an  advancement  of  gingivi,s  that   involves  progressive  a5achment   loss,  pocke*ng,  and  bone  loss  around  the  teeth.    It  has  been  linked  to  both  gene*c  and  en-­‐ vironmental  factors,  making  it  a  mul3factorial  disease.    This  case  examines  a  family  of  eight   siblings  with   a   50%  prevalence   of   chronic   periodontitis.  A   strong   gene)c   influence   is   not   likely,  since  one  iden-cal  twin  in  this  family  has  chronic  periodon--s,  while  the  other  twin   is   unaffected.     Environmental   risk   factors,   including   smoking,   emo-onal   stress,   and   poor   oral  hygiene,  are  present  in  all  affected  individuals,  thus  appearing  to  play  a  significant  role   in   the  development  of  periodon//s   in   this   family.     It   is   important   for   a  den/st   to  under-­‐ stand  the  e)ology  of  the  family’s  chronic  periodon22s  in  order  to  provide  proper  treatment   and  management  of  risk  factors  so  that  good  oral  health  can  be  maintained.       Cita%on:  Grech,  SC.  (2015)  Chronic  periodon,,s   with   familial   aggrega-on   and   discordant   iden--­‐ cal   twins.   Den$stry   3000.   1:a001   doi:10.5195/d3000.2015.30   Received:  March  9,  2015   Accepted:  March  22,  2015   Published:  April  5,  2015   Copyright:  ©2015  Grech.  This  is  an  open  access   ar!cle   licensed   under   a   Crea!ve   Commons   A!ribu%on  Work  4.0  United  States  License.   Email:  scg27@pi).edu     Background     Periodontal   diseases   are   a   broad   category   of   in-lammatory   condi-­‐ tions   that  affect   the   tissue  and  sup-­‐ porting   bone   that   surround   the   teeth.     Gingivitis   and   periodontitis   are   the   most   common   periodontal   diseases   [1].      Gingivitis   is   a  milder   form,   marked   by   in/lammation   of   the   gingiva.     The   in,lammation   is   a   result  of  the  host  immune  response   to   bacteria   in   the   oral   cavity,   as   plaque  is  the  initiating  factor  of  per-­‐ iodontal   disease   [1].     Numerous   other   factors   contribute   to   the   de-­‐ velopment   of   gingivitis,   including   a   genetic   predisposition,   use   of   cer-­‐ tain   medications,   smoking,   preg-­‐ nancy,  puberty,  and  the  presence  of   systemic  disease.    Signs  of  gingivitis   can   progress   from   bleeding   on   probing  to  erythema  and  changes  in   texture   of   the   gingiva.     Gingivitis   is   reversible,  but   if   left  untreated,   can   progress   to   periodontitis   [1].     Peri-­‐ odontitis   has   multiple   forms.     This   study   will   focus   on   the   most   com-­‐ mon   form,   chronic   periodontitis.     Chronic   periodontitis   is   de.ined   as   long   term   in+lammation  of   the   sup-­‐ porting   tissues   of   the   teeth   with   progressive   attachment   loss,   pock-­‐ eting,   and   bone   loss   around   the   teeth   [1,   2].     It   typically   occurs   in   adults   and   progresses   slowly,   and   treatment  is  crucial  otherwise  bone   loss   will   continue.     Plaque   on   the   teeth  and  gingiva  is  the  primary  ini-­‐ tiating   agent,   and   speci-ic   bacteria   including  Porphyromonas  gingivalis,   Aggregatibacter   actinomycetem-­‐ comitans,   Tannerella   forsythia,   Prevotella   intermedia,  and   Fusobac-­‐ terium   nucleatum  have   been   linked   to  chronic  periodontitis  [2].    Genetic   factors  do  not  seem  to  play  as  much   of  a  role   in  chronic  periodontitis  as   in   other   forms   of   periodontal   dis-­‐ ease.    However,  there  is  still  genetic   in#luence   and   possible   heritable   risks  for  more  aggressive  periodon-­‐ tal   breakdown.       For   example,   ge-­‐ netic  variation  of  Interleukin  -­‐1  (IL-­‐ 1)   is  associated  with   increased  sus-­‐ ceptibility   to   aggressive   forms   of   chronic   periodontitis   [1,   3].     Envi-­‐ ronmental   factors   appear   to   have   the   largest   role   in   the  development   and   progression   of   chronic   perio-­‐ dontitis.    These  factors  include  emo-­‐ tional   stress,   smoking,   diabetes,   in-­‐ creasing   age,   and   the   presence   of   other   systemic   disease   [2].     Perio-­‐ dontal   therapy   aims   to   remove   plaque   and   manage   these   risk   fac-­‐ tors   in   order   to   halt   disease   pro-­‐ gression  and  restore  oral  health  [1].        Chronic  periodon,,s  with  familial  aggrega,on  and  discordant  iden,cal  twins   Vol  3,  No  1  (2015)        DOI  10.5195/d3000.2015.30    http://dentistry3000.pitt.edu   2   Case     This  case  examines  a  family  of  eight   siblings,   four   of   which   currently   have  or  have  had  chronic  periodon-­‐ titis.     The   siblings’   mother   had   chronic   periodontitis   during   her   lifetime.     She   was   a   heavy   smoker   until   age   60,   when   she   suffered   a   heart  attack  and  quit  smoking.      She   continued   to   suffer   from   chronic   obstructive   pulmonary   disease   (COPD),   obesity,   and   other   health   issues  as  her  age  increased.  Chronic   periodontitis   was   one   of   these   is-­‐ sues.    She  eventually   lost  or  had  all   of   her   teeth   extracted,   becoming   a   complete   denture   patient   around   age   65.     She  was   a  mother   to   eight   children,  including  one  set  of  identi-­‐ cal  twin  boys.      Four  sons  are  affect-­‐ ed  with  chronic  periodontitis,  while   two  sons  and  two  daughters  remain   unaffected,  as  shown  in  the  Figure  1   pedigree.     Individual   IIb   is  45  year-­‐ old  lifetime  smoker.    He  was  recent-­‐ ly  diagnosed  with  periodontitis  due   to   periodontal   pocketing   exceeding   8mm  and  mobility  of  multiple  teeth.     He  has  since  had  two  teeth  extract-­‐ ed   and   undergone   scaling   and   root   planing.    He   is   the   identical   twin  of   IIc;  however,   individual   IIc   remains   unaffected.     Individual   IIc   is   a   life-­‐ time   smoker  with   liver   disease   but   without   periodontitis.     Individual   IIe   is   52   year-­‐old   lifetime   smoker   with   a   history   of   colon   cancer   and   periodontal  disease.       Individual   IIg   is   a   58   year-­‐old   lifetime   smoker   currently   undergoing   treatment   for   chronic   periodontitis.     The   /inal   in-­‐ dividual   affected,   IIh,   is   a   60   year-­‐ old  lifetime  smoker  with  a  history  of   drug   abuse   and   periodontitis.     He   had  full-­‐mouth  extractions  at  age  58   and   began   wearing   complete   den-­‐ tures.    He  no  longer  has  periodonti-­‐ tis   and   continues   to   maintain   his   oral  health.      Individuals  IIa,  IId,  and   IIf   remain   unaffected;   they   are   all   non-­‐smokers   with   good   oral   hy-­‐ giene  and  minimal  emotional  stress.     Discussion   This   case   demonstrates   the   multi-­‐ factorial   nature   of   chronic   perio-­‐ dontitis.     Although   genetic   factors   may  make  the  children  of  this  fami-­‐ ly   more   susceptible   to   periodontal   disease,   they  do  not  seem  to  be  the   major   determinant.     The   set   of   twins,  IIb  and  IIc,  support  this  claim.     The   twins   are   identical,   meaning   they   share   the   same   DNA,   yet   IIb   has   chronic   periodontitis   and   IIc   does  not.    Thus,  there  must  be  addi-­‐ tional   factors   contributing   to   the   development  of   the  disease   in   indi-­‐ vidual   IIb.     These   factors   are   most   likely  environmental  factors,  includ-­‐ ing   smoking,   poor   oral   care   and   emotional   stress.     Since   all   four   af-­‐ fected   individuals   are   males   and   their  mother  was   affected,   X-­‐linked   inheritance   could   be   considered.     However,   this   has   not   been   shown   to   be   a   common   mode   of   inher-­‐ itance   of   chronic   periodontitis,   as   the   speci)ic   genetic   in)luences   of   chronic   periodontitis   still   remain   uncertain.     The   possible   environ-­‐ mental  risks  of  the  affected  individ-­‐ uals   of   this   case   have   been   speci1i-­‐ cally  linked  to  chronic  periodontitis.       Furthermore,  three  of  the  four  unaf-­‐ fected   individuals   do   not   display   any   of   the   environmental   risk   fac-­‐ tors   of   chronic   periodontitis.     The   environmental   factors   thus  seem  to   play   a   signi*icant   role   in   the   devel-­‐ opment   of   periodontal   disease   in   this   family,   with   genetics   possibly   contributing   additional   susceptibil-­‐ ity   or   risks.     It   is   important   for   a   dentist   to   understand   the   etiology   of  the  family’s  chronic  periodontitis   in   order   to   provide   proper   treat-­‐ ment   and   management   of   risk   fac-­‐ tors  so  that  oral  health  can  be  main-­‐ tained.    If  the  environmental  factors   are   not   managed,   long-­‐term   treat-­‐ ment   will   not   be   successful.     Bone   and   tooth   loss  will   continue   unless   the   periodontal   disease   is   success-­‐ fully   treated  [1].        Successful   treat-­‐ ment   involves   mechanical   debride-­‐ ment  via  scaling  and  root  planing,  in   addition   to   managing   environmen-­‐ tal   factors  that  may  be  contributing   to   the   disease.     Depending   on   the   severity,   some   effects   of   the   perio-­‐ dontal   destruction   may   be   irre-­‐ versible.    Patient   speci0ic   treatment   planning  must   be   completed   in   or-­‐ der  to  determine  the  best  treatment   option,  which  may  include  tissue  or   bone   grafts,   extractions,   and   tooth   replacement.   Ia   Ib                                    IIa        IIb                            IIc                                  IId                                IIe                              IIf                                  IIg                              IIh     Figure  1.    Pedigree  of  chronic  periodontitis  prevalence  over  two  generations.    Affected  indi-­‐ viduals  marked  in  red.    IIb  and  IIc  represent  identical  twins;  IIb  is  affected  with  periodonti-­‐ tis  and  IIc  is  not.      Chronic  periodon,,s  with  familial  aggrega,on  and  discordant  iden,cal  twins   Vol  3,  No  1  (2015)        DOI  10.5195/d3000.2015.30    http://dentistry3000.pitt.edu   3     References     1.     Newman  M,   Carranza   FA,   Takei   H,   Klokkevold   PR   (2006).     Carran-­‐ za’s   Clinical   Periodontology:   Tenth   Edition.     Philadelphia:   Saunders.     494  p.     2.    Genetic  and  heritable  risk  factors   in   periodontal   disease.   B.   S.   Michalowicz.   Journal   of   Periodon-­‐ tology,   1994:May;65(5):   479–488.     PMID:  8046564.     3.    The  Effect  of  IL-­‐4  Gene  Polymor-­‐ phisms   on   Cytokine   Production   in   Patients   with   Chronic   Periodontitis   and   in   Healthy   Controls.   Bartoya   J,   Linhartova   PB,   Podzimek   S,   et   al.     Mediators   of   In.lammation,   2014.   PMID:   25530681.   (Epub   ahead   of   print).