Transcript laura damian - boli rare cluj 2015

Importanta colaborarii
interdisciplinare in bolile
rare:
interferente intre reumatologie
si oncologie
dr. Laura Damian
Clinica Reumatologie, Spit. Cl. Jud. de Urgenta Cluj
Interferente dintre reumatologie si
oncologie
• determinari
secundare osoase
• mielomul multiplu
• sdr Sjogren
– proliferare LB
• granulomatoza
limfomatoida
– VEB
• sindroame
paraneoplazice
– dermato/polimiozita
– poliartrita
– vasculite
• poliartrita nodoasa
• crioglobulinemica
– policondrita
Interferente dintre reumatologie si
oncologie
pseudotumori
inflamatoare
• poliangiita cu
granulomatoza (fosta
GW)
– dg dif cu Tu orbitale, ORL,
pulmonare
• sindromul IgG4
– dg dif cu Tu digestive,
retroperitoneale,
parotidiene, orbitare
• boli autoinflamatoare
– sdr abceselor sterile
multiple
– osteita cronica multifocala
recurenta
– boala Still a adultului
– policondrita
sdr hemofagocitic/ sdr
de activare
macrofagica
Interferente dintre reumatologie si
oncologie
trat din
oncologie/hematologie
– aplicate in bolile
reumatologice
sistemice
- ciclofosfamida (Fauci)- trat
vasculitelor sistemice
- inductia remisiunii, consolidare,
mentinere
• dg si trat. sdr
hemofagocitic/ sdr de
activare macrofagica
• trat. complicatiilor
terapiilor
imunosupresoare
– ex anemia aplastica
Policondrita recidivanta
Boala multisistemica avand drept substrat inflamatia
recurenta a cartilajului, severa, progresiva
Inflamatia poate fi subtila sau foarte evidenta, mimand
erizipelul sau cc bazocelular.
RP: Patogeneza si diagnostic
Patogeneza:
– LT (NKT<)
– ac anti-colagen (spec.tip
II), ac anti-matrilina1, antitubulina-alfa
– HLS DR4
– IL8, MIP1 alfa, MCP-1
Criterii de dg:
• Mc Adam (3/6)
– condrita auriculara
– poliartrita seronegativa
non-eroziva
– condrita nazala
– inflamatie oculara
– condrita respiratorie
– disfunctie
vestibulara+cohleara
• Damiani &Levine:
– 1 criteriu McAdam
+
– confirmare histologica
Cantarini L et al: Diagnosis and clasification of RP. J Autoimm 2014; 48-49:53-9.
RP:Epidemiologie
• boala rara (incidenta
3.5 cazuri/1 milion/an)
• supravietuirea la 5
ani: 66-74% (45% in
asociere cu vasculita
sistemica)
Michet CJ et al: Relapsing polychondritis. Survival and predictive role of early disease manifestations. Ann Int Med
1986; 104:74-8.
RP: Manifestari clinice
• generale: febra, pierdere
ponderala
• ORL: dureri auriculare, in
special nocturne, hipoacuzie
brusc instalata, vertij, tinnitus,
otita; ureche “de cocker”, nas
“in sa”, colaps traheal
respirator
• renale: hematurie, edeme
• respiratorii: dispnee,
wheesing; pneumonii
• cardiace: ruptura de
cordaje/pilieri cu insuf aortica,
anevrisme Ao
• digestive: disfagie, vasc
abdominala
• afte orale si genitale (sdr
MAGIC)
• cutanate: eruptii, livedo
reticularis, ulceratii cutanate,
eritem nodos, sdr Sweet etc
• oculare:”ochi rosu” dureros
unilateral, episclerita, sclerita,
scleromalacie perforanta,
conjunctivita, tumefiere
intermitenta de pleoape
• neurologice: cefalee, ataxie,
meningita aseptica, pareze de
n cranieni, confuzie, psihoze,
dementa
Letko E et al: Semin Arthritis Rheum 2002; 31(6): 384-95. Firestein GS et al, Am J Med 1985; 79:65-72
Seria noastra-2012
• 34 pacienti (2/3F)
• varsta medie 44.8+16.9
ani
• 5 malignitati
hematologice dg la
momentul dg policondritei
– + 2 SMD dg ulterior
– artrita: 30/34 pac
– condro- si
manubriosternala la debut mimand sdr Tietze sau sdr
SAPHO
Time from onset
to diagnosis
ENT involvement
Laryngeal
dysphonia
Auricular
deformities
Episcleritis
Pericarditis
Leukopenia
Glomerulonephriti
s
Symmetric
arthritis
2.43 yr
Asymmetric
arthritis
4.3 yr
6/17
9/17
2/13
4/13
14/17
4/13
5/17
8/17
6/17
9/17
1/13
2/13
0/13
7/13
p
0.03
0.03
Damian L, Ghib L et al: Articular involvement in relapsing polychondritis. Arthritis Rheum 2012; 64 (S10): 1922
RP: Boli asociate
•
•
•
•
•
•
•
vasculita sistemica
PR
artrita psoriazica
LES
sdr Sjogren
boli inflamatorii intestinale
tiroidita autoimuna
• boli hematologice
maligne
Dg dificil
• in medie: durata de la
debutul simptomelor la
dg= 2.9 ani
• 1/3 din pacienti>5 dr
• in seria noastra- durata
medie= 36 luni(1-168)
• nr de doctori =4 (1-8)
Trentham DE, Le CH: Relapsing polychondritis. Ann Int Med 1998;129(2): 114-22
RP: Investigatii
• ex clinic primeaza!
• biopsia
• HR-CT toracic
• CT spiral cu
reconstructie
• RMN
• SPECT-CT (afectarea
articulara subclinica)
• screening periodic
hematologicobligatoriu!
– SMD
• in functie de bolile
asociate
RP:Tratament
• corticoterapie (oral sau pulse
iv)
• imunosupresoare: MTX, AZA,
CyA, SSZ, HQ
• CF in cazurile severe (sclerita
necrozanta, afectare SNC,
renala, alte afectari majore de
organ)
• dapsona, clofazimina
Sunt necesare studii controlate,
prospective, in centre de
referinta/expertiza
multidisciplinara!
E necesara includerea in progr de
boli rare!
Terapia biologica
• studii de caz (nu sunt
trialuri randomizate)
• metaanaliza Kemta (62
pac) :
–
–
–
–
–
–
blocante TNF (43)
rituximab (11)
anakinra (5)
tocilizumab (2)
abatacept (1)
eficienta la 27 pac, nonefic la 29
• seria Moulis (22 pac):
Kemta Lekpa F et al, Semin Arthritis Rheum 2012; 41(5):712-9
Molulis G et al, Clin Exp Rheumatol 2013; 3196):937-9
– antiTNF efic 88%, cu
pierderea efic ; switch ABA
sau TCZ
– efecte sec- infectii
Echipa
• medici si
asistente
• implicarea
pacientului
si familiei:
• poze (selfie!)
cu
manifestarile
inflamatorii
intermitente
• jurnal
ORL-ist
infectionist
nefrolog
reumatologhematolog
pneumolog
BMF
pacient
ATI
dermatolog
oftalmolog
neurolog
gastroenterolog
plastician
imagist
psihiatru ortoped
cardiolog
psiholog
(Inca 10 cazuri dg din 2012!)
med lab
BFT
MF
Va multumesc!