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HAEMOPHILIA – “Need for
action” review
NLP Practitioner, Medical Scientist and a Cytologist
of International Academy of Cy...
AIMS
• This learning session will ENABLE multi-team
participants to ASSESS the NEEDS of People
with “Haemophilia” and thos...
LEARNING OBJECTIVES
• To raise priority areas afforded on Haemophilia
• To integrate haemophilia into NCC strategic plan
•...
Making a diagnosis is the responsibility of everyone
Government/
funding
agencies
Society and
public at large
Patient
orga...
(Stjernsward, 2007)
Results Frameworks
8
Goal: Improved Health Status
Objective: Improved diagnosis / examination Appropriate referral Practic...
Rare disease
• A rare disease is any disease that affects a small
percentage of the population. about 1 in 1,500 people
• ...
Ehlers- Danlos Sydrome
Cystic fibrosis 7q P
Down syndrome 21 C
Duchenne muscular
dystrophy
Xp D
Familial
Hypercholesterole...
HAEMOPHILIA
• Haemophilia A affects about 1 in 5,000–
10,000, while haemophilia B affects about 1 in
40,000, males at birt...
Gender Distribution: Report on the
Annual Global Survey 2015
• „The top five types of hereditary bleeding
disorders with t...
Rare Genetic disorders
• Most common disorders
• Duchenne-muscular-dystrophy
• P – Point mutation, or any insertion/deleti...
X- linked haemophilia
Vascular breach
Primary haemostasis
Platelet thrombus
Coagulation
Fibrin-platelet clot
Bleeding arrest
Fibrinolysis
Clot d...
Homeostatic balance
Coagulation Fibrinolysis
Platelet
Blood
Vessel
Thrombin/Thromboplastin
• is a key enzyme in blood coagulation recognized
for its multiple functions including fibrin
gene...
Making an accurate diagnosis of haemophilia
Haemo
philiadi
agnosis
Histor
y
Labora
tory
testing
Clinical
evaluati
on
2
Clinical features
Haemmorrhagic manifestation
• Severe -Bleed spontaneously
• Moderate -Bleed with minor trauma
• Mild -Bl...
haemarthrosis (haemophilic
arthropathy),Deep internal
bleeding
Haemarthrosis
Acute bleed
• Pain
• Swelling
Chronic bleeds
• Muscle wasting
• Axial deformity
• Instability
• Fixed Flexio...
Musculoskeletal bleed
GIT bleed
Traumatic bleed
Differential diagnosis
Feature Coagulation
defect
Platelet and
blood vessel
defect
• Type of bleed • Haemarthros
is
• Pete...
Level
Percentage of normal factor
activity in blood
Number of international units
(IU) per millilitre (ml) of whole
blood
...
Accurate history includes ….
History
What is the differential diagnosis ?
Is the bleeding congenital or
acquired ?
What is...
History - drugs
Component Drugs
Coagulopathy Coumadins
Heparins
Platelet dysfunction Antiplatelet
Non-steroidal anti-infla...
Coumarin drugs
interfering with vitamin K-dependent coagulation
factors 27910
• warfarin,
• dicumarol,
• phenprocoumon,
• ...
Factor Xa inhibitors
• Factor Xa is central to the propagation of
coagulation
• In combination with co-factors bound to
ac...
Fxa inhibitors in market
oral anticoagulant therapies
• ora dabigatran (Pradaxa®, direct thrombin
inhibitor),
• apixaban (...
VON Willbrand’s disease
INHERITED PLATELETS DISORDERS
• Platelets do not work the way they work
• Adhession, secretion, aggregation
• No plug form...
Congenital vs acquired
Component Congenital Acquired
Coagulation
abnormalities
Haemophilia
Von Willebrandt
Other coag fact...
Lab tests
• Bleeding time ; PLATELETS PLUG FORMATION
• PT measures the number of seconds it takes for a clot
to form
• (IN...
Lab tests cont.
• Activated Partial Thromboplastin Time
APTT
 Thrombin Time;
 Lupus Anticoagulant Testing;
To help inves...
Sporadic haemophilia
• Acquired haemophilia is associated
with cancers,
• autoimmune disorders such as SLE ,
• and pregnan...
Haematological abnormalities
• Hematological abnormalities in HIV infected patients
include anemia, thrombocytopenia and g...
• The causes of HIV related anemia are multifactorial.
• There is increased production of cytokines
especially in advanced...
Establishing a National haemophilia
Registry
• Benefit
• Advocating for quality care
• Allocation of resources- priority s...
NETWORKS-TOGETHER WE CAN
• Members with the same issues can come
together for sharing coping strategies, to feel
more empo...
Multi-professional team action
• Chiefs, community Leaders, church Leaders, ,
Psychologists, NLP Practitioners, Therapists...
Thanks
• www.thinktankent.com
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
Demands for Haemophilia  tratment centres to fullfull universal health access in Lesotho
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Demands for Haemophilia tratment centres to fullfull universal health access in Lesotho

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Haemophilia ia a rare disease that affect 1: 10 000 people. Demands for services, medication and access to cheap effective clotting factors is a human right for people living with haemophilia. A haemophilia registry is a demand from the Government at large .. Essential drug list should also contain haemophilia medication.
we need to be contacted for more information
www.thinktankent.com

Veröffentlicht in: Gesundheit & Medizin
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Demands for Haemophilia tratment centres to fullfull universal health access in Lesotho

  1. 1. HAEMOPHILIA – “Need for action” review NLP Practitioner, Medical Scientist and a Cytologist of International Academy of Cytology. #6467 Sejojo Phaaroe +266 50468036 www.thinktankent.com
  2. 2. AIMS • This learning session will ENABLE multi-team participants to ASSESS the NEEDS of People with “Haemophilia” and those living with HIV and AIDS so as to be able to PLAN appropriately for Management, care and support needed by Patients • INCLUDE HAEMOPHILIA INTO NCCP + NSP
  3. 3. LEARNING OBJECTIVES • To raise priority areas afforded on Haemophilia • To integrate haemophilia into NCC strategic plan • To build capacity by training multi-team health professional – for building – National guidelines – Multistakeholders technical team – Community strengthening • To establish networks for funding and resource mobilization • Build a Platform for National Registry haemophilia – – surveys , research and development
  4. 4. Making a diagnosis is the responsibility of everyone Government/ funding agencies Society and public at large Patient organizatio n Health care provid ers Patient and family
  5. 5. (Stjernsward, 2007)
  6. 6. Results Frameworks 8 Goal: Improved Health Status Objective: Improved diagnosis / examination Appropriate referral Practices for CBE s R1: Access/Availability R2: Quality R3: Sustainability R4: Demand R1.1:Commodities/Facilities R1.2: Equity R2.2: Provider Performance R2.3: Training/Supervision R2.4: Information System R3.1: Policy R3.2: Health Care Finance R3.3: Private Sector R4.1: Attitude R4.2: Knowledge R4.3: Community Support
  7. 7. Rare disease • A rare disease is any disease that affects a small percentage of the population. about 1 in 1,500 people • there's a lack of a market large enough to gain support and resources for discovering treatments for it • Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear. • Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday ( Many references )
  8. 8. Ehlers- Danlos Sydrome Cystic fibrosis 7q P Down syndrome 21 C Duchenne muscular dystrophy Xp D Familial Hypercholesterolemia P Haemochromatosis 6 P Haemophilia X P Klinefelter syndrome X C
  9. 9. HAEMOPHILIA • Haemophilia A affects about 1 in 5,000– 10,000, while haemophilia B affects about 1 in 40,000, males at birth. • As haemophilia A and B are X-linked recessive disorders females are very rarely severely affected • Some females with a nonfunctional gene on one of the X chromosomes may be mildly symptomatic
  10. 10. Gender Distribution: Report on the Annual Global Survey 2015 • „The top five types of hereditary bleeding disorders with the largest proportion of women are: • platelet disorders, • VWD, • Fibrinogen deficiency, • FXI deficiency and FV deficiency (Figure 1) „ • A gender breakdown for hemophilia A and B is shown, indicating that there are women who are affected by hemophilia
  11. 11. Rare Genetic disorders • Most common disorders • Duchenne-muscular-dystrophy • P – Point mutation, or any insertion/deletion entirely inside one gene • D – Deletion of a gene or genes • C – Whole chromosome extra, missing, or both (see Chromosome abnormality) • T – Trinucleotide repeat disorders: gene is extended
  12. 12. X- linked haemophilia
  13. 13. Vascular breach Primary haemostasis Platelet thrombus Coagulation Fibrin-platelet clot Bleeding arrest Fibrinolysis Clot dissolution
  14. 14. Homeostatic balance Coagulation Fibrinolysis Platelet Blood Vessel
  15. 15. Thrombin/Thromboplastin • is a key enzyme in blood coagulation recognized for its multiple functions including fibrin generation, platelet aggregation, tissue repair, and other aspects of disease pathogenesis..14 • Exposure/expression of tissue factor (eg, on damaged vascular endothelium or monocytes) combines with factor (F) VIIa to initiate a cascade of procoagulant activation (eg, FX, FIX, and FV) generating thrombin, which facilitates cleavage of fibrinogen
  16. 16. Making an accurate diagnosis of haemophilia Haemo philiadi agnosis Histor y Labora tory testing Clinical evaluati on
  17. 17. 2
  18. 18. Clinical features Haemmorrhagic manifestation • Severe -Bleed spontaneously • Moderate -Bleed with minor trauma • Mild -Bleed with surgery or trauma Sites of bleeding • Joints - knees > ankles > elbows >shoulder > wrist > hips • Muscles - Psoas muscle, quadratus, • Mucous membranes- oral, nasal, GIT, GUT • Other Organ systems – CNS,
  19. 19. haemarthrosis (haemophilic arthropathy),Deep internal bleeding
  20. 20. Haemarthrosis Acute bleed • Pain • Swelling Chronic bleeds • Muscle wasting • Axial deformity • Instability • Fixed Flexion deformity • Crepitation Differential diagnosis • Septic arthritis • Osteomyelitis • Acute gouty attack
  21. 21. Musculoskeletal bleed
  22. 22. GIT bleed
  23. 23. Traumatic bleed
  24. 24. Differential diagnosis Feature Coagulation defect Platelet and blood vessel defect • Type of bleed • Haemarthros is • Petechiae / purpura • Extent of bleeding • Localized • Systemic • Site of bleeding • Joints , skin, muscle • Mucous mm, skin • Amount of blood • +++ • + • Spontaneous or induced • Spontaneou s • Haemostatic challenge • Immediate or delayed • Delayed • Immediate
  25. 25. Level Percentage of normal factor activity in blood Number of international units (IU) per millilitre (ml) of whole blood Normal range 50%–150% 0.50–1.5 IU Mild hemophilia 5%–40% 0.05–0.40 IU Moderate hem ophilia 1%–5% 0.01–0.05 IU Severe hemophilia Less than 1% Less than 0.01 IU
  26. 26. Accurate history includes …. History What is the differential diagnosis ? Is the bleeding congenital or acquired ? What is the drug history ?
  27. 27. History - drugs Component Drugs Coagulopathy Coumadins Heparins Platelet dysfunction Antiplatelet Non-steroidal anti-inflammatory Drugs- NSAID Cytostatic agents Antibiotics Blood vessel abnormality Steroids
  28. 28. Coumarin drugs interfering with vitamin K-dependent coagulation factors 27910 • warfarin, • dicumarol, • phenprocoumon, • Acenocumarol Patients receiving these have prolonged P.T PTTK,
  29. 29. Factor Xa inhibitors • Factor Xa is central to the propagation of coagulation • In combination with co-factors bound to activated platelets, Factor Xa amplifies coagulation by converting prothrombin to thrombin
  30. 30. Fxa inhibitors in market oral anticoagulant therapies • ora dabigatran (Pradaxa®, direct thrombin inhibitor), • apixaban (Eliquis®, factor Xa inhibitor) • rivaroxaban (Xarelto®, factor Xa inhibitor). Labeled indications and dosing varies between the new agents.
  31. 31. VON Willbrand’s disease
  32. 32. INHERITED PLATELETS DISORDERS • Platelets do not work the way they work • Adhession, secretion, aggregation • No plug formation • BERNARD-SOULER SYNDROME: Abnormality in receptors for vWFactor • Symptoms:  easy bleeding, nose bleeds, gums , heavy menstrual bleedings( menorrhagia) , bleeding during ovulation( FENNING) , Abnormal bleeding , giving birth , dental works, surgery,
  33. 33. Congenital vs acquired Component Congenital Acquired Coagulation abnormalities Haemophilia Von Willebrandt Other coag factors Dysfibrinogenemia Drugs, inhibitors Vitamin K Acquired haemopathies Liver pathology Platelet abnormalities Bernard Soulier Glanzman Gray platelet Hemansky Pudlik Drugs Acquired haemopathies Systemic diseases Blood vessel abnormalities Kassabach Merrit HHT Marfan Pseudoxanthoma Drugs, Trauma, Metabolic Infections, Neoplastic
  34. 34. Lab tests • Bleeding time ; PLATELETS PLUG FORMATION • PT measures the number of seconds it takes for a clot to form • (INR) is calculated from a PT result and is used to monitor how well the blood-thinning medication (anticoagulant) warfarin (Coumadin®) is working to prevent blood clots. • Activated clotting time; APTTK , To monitor treatment with heparin or other blood-thinning medications (anticoagulants) when undergoing heart bypass surgery, coronary angioplasty, or dialysis • D-dimer – FDP’s is one of the protein fragments produced when a blood clot dissolves in the body
  35. 35. Lab tests cont. • Activated Partial Thromboplastin Time APTT  Thrombin Time;  Lupus Anticoagulant Testing; To help investigate the cause of a blood clot (thrombotic episode); to evaluate a prolonged partial thromboplastin time (PTT); to help determine the cause of recurrent miscarriages  Coagulation Factors;  Platelet Count;  Heparin Anti-Xa;  von Willebrand Factor;  Antiphospholipid Antibodies
  36. 36. Sporadic haemophilia • Acquired haemophilia is associated with cancers, • autoimmune disorders such as SLE , • and pregnancy
  37. 37. Haematological abnormalities • Hematological abnormalities in HIV infected patients include anemia, thrombocytopenia and granulocytopenia. • Anemia and neutropenia are generally caused by inadequate production due to suppression of bone marrow by HIV infection through abnormal cytokine expression and alteration of the bone marrow microenvironment. • Thrombocytopenia is due to immune mediated destruction of platelets in addition to inadequate production. • Other etiologies include drugs, • secondary opportunistic infections, • malignancies • and nutritional deficiencies ( F.A VB12. FE++_)
  38. 38. • The causes of HIV related anemia are multifactorial. • There is increased production of cytokines especially in advanced disease which may block marrow production of red cells, • decreased erythropoietin production, • opportunistic infections such as Mycobacterium avium complex and Parvovirus B-19, • administration of drugs such as Zidovudine, ganciclovir and trimethoprim – sulfamethoxazole and myelophthisis caused by malignancies such as lymphoma
  39. 39. Establishing a National haemophilia Registry • Benefit • Advocating for quality care • Allocation of resources- priority setting – needs of haemophilia patients • Monitoring trends in health programs –HIV, CANCER, VMMC , MCHC, etc • Improve tendering process • Used as distribution mechanism for- clotting factor concentrates, Rf111 • Facilitate establishment of a haemophilia communication network
  40. 40. NETWORKS-TOGETHER WE CAN • Members with the same issues can come together for sharing coping strategies, to feel more empowered and for a sense of community • relevant information, relating personal experiences, • listening to and accepting others' experiences, providing sympathetic understanding and establishing social networks and partnerships . • engage in advocacy • RESOURCE MOBILIZATION , money ,money money , for outreach
  41. 41. Multi-professional team action • Chiefs, community Leaders, church Leaders, , Psychologists, NLP Practitioners, Therapists; • Pharmacists, traditional healers , • Nurses, Dentists, • Orthopaedic Surgeons • Physiotherapists, Occupational therapists, music therapists, nutritional therapists • Haematologists • Cytologists • QMS consultants • Advocates • VHW’s and Survivors and patient organizations • Outreach team leaders
  42. 42. Thanks • www.thinktankent.com

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