Multi-disciplinary Care in Thalassaemia


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Multi-disciplinary Care in Thalassaemia by Michael Angastiniotis - a Thalassaemia patient

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Multi-disciplinary Care in Thalassaemia

  1. 1. Multi-disciplinary Care in Thalassaemia Thalassaemia International Federation“Equal access to quality healthcare for every patient with thalassaemia across the world”
  2. 2. The face of thalassaemia Minimally t t d ti t Mi i ll treated patients aged 8 d Facial deformities and 20 (Cyprus, 1940s)Photos with permission (Modell and Berdoukas, 1984)
  3. 3. Causes of Death in Thalassaemia 1998 2004 Born after 1970Cardiac 71% 68.8% 50.8%Infections 12% 6.8% 14.8%Liver disease 6% 4.1%Malignancies 3% 3.6% 3.3%Endocrine 3%Thrombo- 1% 4.1%embolismAnaemia 1%From Borgna-Pignati C in Haematologica 1998 & 2004F B Pi ti i H t l i
  4. 4. ThalassaemiaOver time it becomes a multi- multi organ disease
  5. 5. The ff t f h i Th effects of chronic anaemia i• Poor vitality and growth• Gallstones• Expansion of haemopoietic tissue• Extramedullary masses: pressure effects• Need for a careful transfusion regimen• Splenomegaly, hypersplenism, splenectomy, severe infections, hypercoagulability yp g y
  6. 6. Complications of blood transfusions•Non- haemolytic febrile reactions•Allergic reactions•Acute haemolytic reactions•Delayed reactions•Auto-immune haemolytic anaemia•TRALI (acute lung injury)•GVHD•Transmission of infectious agents•Iron overload•Need for close collaboration with blood bank
  7. 7. Complications of iron overload Capacity of storage proteins to bind iron is exceeded Non-transferrin-bound iron circulates in the plasma Excess iron promotes Insoluble iron complexes the generation of free are deposited in body hydroxyl radicals, tissues and end organ end-organ propagators of oxygen- t f toxicity occurs related tissue damage Liver Li Cardiac cirrhosis/ Diabetes Growth Infertilitycomplication fibrosis/cance mellitus failure r
  8. 8. Heart Complications in Thalassaemia Th l i● High cardiac output: chronic anaemia, shunts g p , (expanded marrow), vascular injury. Increases cardiac load and effort● Iron deposition in the myocardium. Decreases contractility● Infection: myocarditis● Vascular injuries: arterial stiffness endothelial stiffness, dysfunction, NO deficieny due to haemolysis● Arrhythmias● Hypercoagulability● Endocrine: diabetes, hypothyroid, hypoparathyroid
  9. 9. Histology from a 29 year old patient: myocyte hypertrophy anddeposits of a granular material in mytoplasm.Borrowed from A. Aessoppos
  10. 10. Monitoring the heart in thalassaemia Target: early detection of cardiac iron load• Heart function – LV function (remains normal until late in the disease process) • ECHO • Quantitative sequential (MUGA or MRI)1 – Identified patients at very high risk p y g – Useful in monitoring response to treatment• Heart “iron” iron – T2*2 Cardiac MRI – Identifies patients at increased risk of decreased LV function – Can be used to monitor response of heart iron to therapy 1. Davis t l Blood. 2004 104 263 1 D i et al. Bl d 2004;104:263; 2. Anderson et al. Eur Heart J. 2001;22:2171; 3. Jensen et al. Blood. 2003;101:4632.
  11. 11. Heart T2* <20 ms associated with low LVEF 90 80 70 60 Severe cardiac iron 50 Minimal liver iron 40 %)LVEF (% 30 20 10 0 Severe liver iron 0 20 40 60 80 Minimal cardiac iron Heart T2* (ms) LVEF = left ventricular ejection fraction. Anderson et al. Eur Heart J. 2001;22:2171.
  12. 12. CMR and regular cardiac monitoring by experts •Allows pre clinical detection of cardiac iron load pre-clinical •Early intervention with intensive chelation therapy •Reduces cardiac mortality in thalassaemia Reduces Survival Functions 09 1.0 10 ogica, 200 Birth Cohort 1980- elfer et al Haematolo .9 9 1980- censored 1975-9 1975-9 censored H .8 8 1970-5 1970 5 u iv l C mS rv a 1970-5 censored 1965-9 u .7 1965-9 censored Te 0 10 20 30 40 Years()
  13. 13. Liver Disease in Thalassaemia•Iron overload Iron•Transfusion transmitted virusesHBV – vaccination has ruled out the risk of newinfectionsHCV – 20-80% of multi-transfused thalassaemiapatients are seropositive for HCV antibodies. M ti t iti f tib di Morecommon among those transfused before 1990.Around 10% have developed cirrhosis(V Di Marco Haematologica 2008)
  14. 14. Investigating Liver Disease in Thalassaemia•Serological markers•Molecular markers – viral genotypes•Ultrasonography•Transient elastography – Fibroscan(Di Marco V, Capra M et al B J Haematol 2010)•MRI – R2 and T2*•Liver biopsy
  15. 15. Antiviral therapy for HCV chronic hepatitis (AASLD & EASL Guidelines)• Therapy is indicated in patients with: – elevated transaminases, – positive bl d t t f anti-HCV and HCV RNA iti blood tests for ti HCV d HCV-RNA – clinical evidence of significant liver fibrosis or cirrhosis.• The main goals of the treatment are: – the eradication of virus C; – the control of liver inflammation and liver fibrosis – the prevention of cirrhosis;• Treatment can be defined efficacy if: – serum HCV-RNA remains negative almost 6 months
  16. 16. Treatment of Liver Disease in Thalassaemia•Intensifying iron chelation•Peg Interferon plus Ribavarin•Possible need to increase blood transfusionsdue to Ribavarin haemolysis•New anti-viral agents
  17. 17. Infections in Thalassaemia – the second cause of death•The overall adjusted rate of infection 8.96/100 patientyyears•Un-splenectomised – 4.26/100 patient years•Splenectomised – 12.13/100 patient y p p years•Infections: Pneumonia, Biliary tract infection, soft tissueinfection, septicaemia, liver abscess , p ,•Bacteria: Klebsiella pneumoniae, Escherichia coli,Streptococcus p p pneumoniae, Salmonella typhi, Yersinia , yp ,enterocolitica(Rahav G et al B J Haematol 2006) )
  18. 18. Infections in Thalassaemia – predisposing factors•Anaemia•Splenectomy Splenectomy•Iron overload and iron chelation•Liver function derangement/chronic HCV (Ch (Chung2003)•Diabetes•Transmission by blood transfusion•? Immune deficiency•G6PD Deficiency (Spolarics Z, et al Crit Care Med 2001 ) y
  19. 19. Endocrine complications In Thalassaemia454035 Short stature30 Hypogondism F25 Hypogonadism M20 DM + IGT15 Hypothyroidism10 HypoPTH50
  20. 20. Stress Factors Affecting Patients•Altered appearance, poor growth.•Delayed puberty.•Sense of being different from peers.•Uncertain future (health/death, work etc)•Possible guilt feelings for being a burden.•Engulfement.
  21. 21. Psychosocial Support comes from:Family •DoctorsNursesSpecialist Psychologists, Social workersTeachersSocial environmentAll need to be prepared/informed/trained.
  22. 22. Thalassaemic bone disease ( (TBD))• Affects 80-90% of HbTh patients• Associated with severe morbidity – bone pain, backache, multiple fractures• Multifactorial in origin
  23. 23. Delivery of care UK• 807 patients cared for by 164 physicians nationwide 71 physicians 1 patient 77 physicians 2-9 patients 12 physicians h i i 10-30 ti t 10 30 patients 4 physicians 50 or more
  24. 24. Multi disciplinary Multi-disciplinary care Thalassaemia centre teamPsychosocial Cardiologist g team Hepatologist endocrinologist
  25. 25. How should we provide treatmentMultidisciplinary team approach – Lead consultant – Nurse specialist – Psychologist – Cardiology – Endocrinology – Hepatology – Reproductive medicine – Oth specialist services (orthopedic, obstetric) Other i li t i ( th di b t ti )
  26. 26. Quality of care Coordination of specialties Equity, Access, National planMultidisciplinary, Research Decision support centres of Ethical,/legal and EHR excellence Community
  27. 27. Thalassaemia PatientThank you for listening