know what RHEUMATIC FEVER ,RHEUMATIC HEART DISEASE& HEMOPHILIA is, how to diagnose ,to treat and their complication

1. RHEUMATIC FEVER &
HEMOPHILIA
BY Dr NDAYISABA CORNEILLE
10/23/2019Dr Ndayisaba Corneille

2. INTRODUCTION
Rheumatic fever is multisystem inflammatory disease resulting from an
autoimmune reaction due to a Group A strep throat infection.
Rheumatic fever is a systemic post streptococci nonsuppurative inflammatory
disease that seriously affects the heart, and also involves the arteries, joints,
tendons, subcutaneous tissue and nervous system. causing temporary, painful
arthritis and other symptoms. In some cases rheumatic fever causes long-term
damage to the heart and its valves. This is called rheumatic heart disease
Occurs in children and young adults (the first attack usually occurs between 5 and
15 years of age)
10/23/2019Dr Ndayisaba Corneille

3. Etiopathogenesis
 Caused by infection of the upper respiratory tract with group A streptococci
 it is triggered by an immune-mediated delayed response to specific strains of group A
streptococci that possess antigens which may cross-react with cardiac myosin and
sarcolemmal membrane protein.
 Antibodies produced against the streptococcal antigens mediate inflammation in the
endocardium, myocardium and pericardium as well as the joints and skin
 Histologically, fibrinoid degeneration is seen in the collagen of connective tissues
 Aschoff nodules are pathognomonic and occur only in the heart.
 They are composed of multinucleated giant cells surrounded by macrophages and T
lymphocytes, and are not seen until the subacute or chronic phases of rheumatic carditis.10/23/2019Dr Ndayisaba Corneille

4. Predisposing factors,
Age (4-15years)
Hot climate
Poor nutrition
Overcrowding
10/23/2019Dr Ndayisaba Corneille

5. Clinical Features
 The disease presents suddenly with
 Fever
 joint pains
 lethargy
 malaise and loss of appetite
 The clinical features depend on the organs that are involved.
 Symptoms occur 3 weeks (1-5) after streptococcal pharyngitis (but the patient
may give no history of sore throat)
 The most common clinical presentation of ARF is polyarthritis and fever.
 Polyarthritis is present in 60–75% of cases and carditis in 50–60% 10/23/2019Dr Ndayisaba Corneille

6. Clinical Features - Carditis
 Pancarditis occurs & involves endocardium, myocardium & pericardium to varying degrees
 Carditis may manifest as:
 breathlessness (due to heart failure or pericardial effusion)
 Palpitations
 chest pain (usually due to pericarditis or pancarditis)
 Tachycardia
 cardiac enlargement
 new or changed cardiac murmurs
 A soft systolic murmur due to mitral regurgitation is very common.
 A soft mid-diastolic murmur (the Carey Coombs murmur) is due to valvulitis, with nodules
forming on the mitral valve leaflets
 ECG may show ST and T wave changes, conduction defects
10/23/2019Dr Ndayisaba Corneille

7. Clinical Features - Arthritis
 Is an early feature & occurs when streptococcal antibody titres
are high
 Typically it is migratory poly arthritis: moving from one joint to
another over a period of hours
 ARF almost always affects the large joints—most commonly the
knees, ankles, hips, and elbows—and is asymmetric.
 The pain is severe and usually disabling until anti-inflammatory
medication is commenced.
10/23/2019Dr Ndayisaba Corneille

8. Clinical Features – Skin Lesions
 Erythema marginatum
 Occurs in < 5% of patients
 The lesions start as red macules
(blotches) which fade in the centre
but remain red at the edges
 Are pink, non-itchy rash occurs
mainly on trunk and limbs but not
the face.
10/23/2019Dr Ndayisaba Corneille

9. Clinical Features – Skin Lesions
 Subcutaneous nodules
 Occur in 5-7% of patients.
 They are small (0.5-2.0 cm), firm
and painless
 Best felt over extensor surfaces of
bone or tendons
 Nodules typically appear more than
3 weeks after the onset of other
manifestations
10/23/2019Dr Ndayisaba Corneille

10. Clinical Features – Sydenham's
chorea (St Vitus dance)
 Is a late neurological manifestation
 Typically appears at least 3 months after the episode of
ARF when all the other signs may have disappeared
 Common in females
 Emotional lability may be the first feature and is typically
followed by:
 purposeless involuntary choreiform movements of the hands,
feet or face.
 Speech may be explosive and halting
 Spontaneous recovery usually occurs within a few
months.
10/23/2019Dr Ndayisaba Corneille

11. Investigations
 Evidence of a systemic illness (non-specific)
 Leucocytosis
 Elevated ESR
 Elevated CRP
 Evidence of preceding streptococcal infection (specific)
 Throat swab culture: group A β-haemolytic streptococci
 Antistreptolysin 0 antibodies (ASO titres): rising titres, or levels of
> 200 U (adults) or > 300 U (children)
 Anti-DNase B (ADB) titers
 Recent scarlet fever
10/23/2019Dr Ndayisaba Corneille

12. Investigations
 Evidence of carditis
 Chest X-ray:
 Cardiomegaly
 Pulmonary congestion
 ECG:
 first- and rarely second-degree heart block
 features of pericarditis
 T-wave inversion
 reduction in QRS voltages
 Echocardiography:
 cardiac dilatation
 valve abnormalities
10/23/2019Dr Ndayisaba Corneille

13. Diagnosis:
JONES CRITERIA FOR THE DIAGNOSIS OF
RHEUMATIC FEVER
Major manifestations
–Carditis
–Polyarthritis
–Chorea
–Erythema marginatum
–Subcutaneous nodules
Minor manifestations
–Fever
–Arthralgia
–Previous rheumatic
fever
–Raised ESR or CRP
–Leucocytosis
–First-degree AV block
10/23/2019 Dr Ndayisaba Corneille

14. contn……
 Diagnosis of ARF is based on demonstrating:
 Two major
OR
 One major and two minor manifestations
 Plus evidence of preceding group A streptococcal infection
(recent scarlet fever, raised antistreptolysin 0 or
other streptococcal antibody titre, positive
throat culture)
10/23/2019Dr Ndayisaba Corneille

15. Differential Diagnosis of Rheumatic fever
1. Infective endocarditis
2. Rheumatoid Arthritis
3. Septic Arthritis
4. Sickle cell disease
10/23/2019Dr Ndayisaba Corneille

16. TREATMENT
For symptoms: aspirin or other anti-inflammatory . Continue until all symptoms are
absent .
Antibiotics
Acute treatment: Oral penicillin 500mg BID-TID for 10 days
Use erythromycin 40mg/kg/day divided in 2-4 doses or a cephalosporin if PCN
allergic.
Treat even if no pharyngitis at the time of diagnosis.
Culture family contacts and treat if positive.
--Chronic treatment: PCN 250 mg BID or sulfadiazine 1000mg/day, , or
erthyromycin 250 mg BID. 10/23/2019Dr Ndayisaba Corneille

17. To eradicate any streptococci:
 Phenoxymethylpenicillin (Pen V) 250 mg every 6 hours for 10 days
Child: 125 mg per dose Or Benzathine benzylpenicillin dose 1.2 MU IM stat
 Child < 30 kg: 0.6 MU
 Child > 30 kg: 1.2 MU
To treat the inflammation
 Acetylsalicylic acid 4-8 g/day untill signs of inflammation subside (usually 4-8 weeks)
 Child: 80-100 mg/kg/day in 3 doses and Plus magnesium trisilicate compound 2-4 tablets every 8 hours
Taken 30 minutes after the acetylsalicylic acid tablets
If allergic to aspirin :Low dose steroid
10/23/2019Dr Ndayisaba Corneille

18. Contn….
Glucocorticoids
 Produce more rapid symptomatic relief than aspirin
 Indicated in cases with carditis or severe arthritis
Treatment of Chorea
 Drugs do not alter the duration or outcome of chorea.
 Carbamazepine or sodium valproate
 A response may not be seen for 1–2 weeks
 Continue drug for 1–2 weeks after symptoms subside
10/23/2019Dr Ndayisaba Corneille

19. Treatment :Supportive measures
 Bed rest
 lessens joint pain
 reduces cardiac workload
 The duration of bed rest should be guided by
symptoms and markers of inflammation (e.g.
temperature, leucocyte count and ESR) and should be
continued until these have settled
10/23/2019Dr Ndayisaba Corneille

20. Prognosis
 ARF lasts upto 12 weeks if untreated
 With treatment, patients are usually discharged from
hospital within 1–2 weeks
 Cases with severe carditis need close clinical and
echocardiographic monitoring
 After resolution of acute episode, ensure:
 long-term clinical follow-up
 adherence to a regimen of secondary prophylaxis
10/23/2019Dr Ndayisaba Corneille

21. Prevention
 Primary prevention:
 Avoid overcrowding
 Timely and complete treatment of group A streptococcal sore
throat with antibiotics
 Secondary prevention
 Patients are susceptible to additional attacks of rheumatic
fever if further streptococcal infection occurs
 Monthly benzathin penicilin G 1.2U:
 Till 10 years after last ARF attack
 For life if severe valvular dz
10/23/2019Dr Ndayisaba Corneille

22. Rheumatic Heart Disease
Although the acute attack of RF may induce arthritis
and sometimes myocarditis, both usually resolve. In
contrast, the sequelae of the cardiac valve can be
disabling. Chronic rheumatic heart disease is
characterised principally by deforming fibrotic valvular
disease (particularly mitral stenosis), which produces
permanent dysfunction and severe, sometimes fatal,
cardiac failure decades later.
Rheumatic heart disease occurs 10-20 years after original
attack. Probably develops in over 50% of patients with
initial carditis.
10/23/2019Dr Ndayisaba Corneille

23. MECHANISM OF
PATHOGENISIS OF RHD
Tiny nodules gather on the valve leaflets in acute
rheumatic fever. Over time fibrin deposition occurs and
valves
thicken or fuse. Another proposed mechanism is acute
inflammation causing adhesion of commisures and then
degenerative sequelae. A subclinical inflammatory
process caused by the stress of chronic turbulent flow
due to the
deformed valve contributes to the progression of
stenosis. With time there is a gradual loss of valve area.
10/23/2019Dr Ndayisaba Corneille

24. Complications
Congestive heart failure
Atrial fibrillation
Pulmonary HTN
Thromboembolic events: mostly occur in pts
with atrial fibrillation
Bacterial endocarditis
10/23/2019Dr Ndayisaba Corneille

25. HEMOPHILIA
10/23/2019Dr Ndayisaba Corneille

26. Hemophilia
A group of hereditary genetic disorders that impair the body's ability
to control blood clotting or coagulation .
The effects of this sex-linked, X chromosome disorder are manifested
almost entirely in males
Females are almost exclusively carriers
of the disorder, and may have inherited it from either their mother or
father.
Charactised by Continuous bleeding after:Injury,Surgery, Tooth
extraction .
More serious complications can occur when Bleeding
into:Joints,Muscles, Brain and other internal organs
10/23/2019Dr Ndayisaba Corneille

27. Causes
• Haemophilia A is an X-linked genetic disorder involving a lack of
functional clotting Factor VIII and represents 90% of hemophilia
cases.
• Haemophilia B is an X-linked genetic disorder involving a lack of
functional clotting Factor IX It is more severe but less common than
Hemophilia A.
• Haemophilia C is an autosomal recessive genetic disorder involving a
lack of functional
clotting Factor XI.
10/23/2019Dr Ndayisaba Corneille

28. SYMPOTOMES
 Spontaneous bleeding
Large or deep bruises
Joint pain and swelling - internal
bleeding
Random bleeding or bruising
Blood in urine
Nosebleeds
Tightness in joints
10/23/2019Dr Ndayisaba Corneille

29. Contn…
 Emergency Signs
Sudden pain, swelling, and warmth
of joints and muscles
Long and painful headaches
Constant vomiting
Fatigue
Neck Pain
Double Vision
10/23/2019Dr Ndayisaba Corneille

30. DIAGNOSIS
Family history of hemophilia
•Fetus testing
•Blood testing from a child or adult
•Diagnostic Testing
•Carrier Testing
10/23/2019Dr Ndayisaba Corneille

31. TREATMENT
 Replacement of the missing clotting factor
 Desmopressin
Injected into vein
Can be given as nasal medication
All this Helps body release factor VIII
10/23/2019Dr Ndayisaba Corneille

32. References
Hutchison’s Clinical Methods
Uganda Clinical Guidelines 2016
Davidson’s Principles and Practice of Medicine,
21st Edition
Kumar & Clark’s Clinical Medicine, 7th Edition
10/23/2019Dr Ndayisaba Corneille