BLEEDING DISORDERS

Name - Amitesh Kumar,Anika Shekhar

Roll no 13,14
Batch 2021
Bleeding Diathesis
They are a group of disorders characterised
clinically by abnormal bleeding, which can be
either spontaneous or become evident after some
inciting event ( trauma, surgery)
Symptoms and causes

Heavy bleeding
This is bleeding a lot more than you expect,like a small cut that
bleeds a lot .it may also be bleeding that does not stop.

Hemarthrosis( joint bleeding)

If you have internal bleeding into your joint, they feel achy,swollen
or warm to your touch.
Petechiae
• These are pinpoint
spot of bleeding
under skin.
Purpura
Small blood vessels
leaking under your skin
may cause red,purple or
brown blood spots under
skin.
 Causes of bleeding diathesis
Vessel wall abnormalities Vessel wall abnormalities may
be
• Congenital, such as hereditary hemorrhagic telangiectasia.
• acquired, such as scurvy.
Hereditary hemorrhagic telangiectasia
• This inherited disorder affects blood vessel formation.
Patient present either with recurrent bleeding, particularly with
iron
deficiency due to occult gastrointestinal bleeding. treatment can
be difficult because of the multiples bleeding point.
Telangiectasia and small aneurysm are found on the
 Ehlers Danlos syndrome
• Vascular Ehlers Danlos syndrome is a rare autosomal dominant
disorder cause by a defect in type 3 collagen that result in fragile
blood vessels and organ membrane ,leading to bleeding and organ
rupture.

• Classical joint hypermobility is often limited in this form of the

disease,but skin change and facial appearances are typical.

This can lead to dangerous internal bleeding and stoke.

 Platelets function disorders
• Bleeding may result from thrombocytopenia or from
congenital or acquired abnormalities of platelet function.
When you bleeding, platelets act like natural bandages to
stop the bleeding

Thrombocytopenia
• Low platelets count can lead to bruising and excessive
bleeding.
The presentation depend on the degree of thrombocytopenia.
Spontaneous bleeding typically occur only when the platelets
counts is low.
 Polycythemia rubra Vera
• Polycythemia rubra Vera occurs mainly in patient over the age
of 40 year and presents either as an incidental finding of a high
hemoglobin or with symptoms of
hyperviscosity,such as lassitude ,loss of concentration
,headache ,dizziness and pruritus.

• Venous thromboembolism may also occurs .

Peptic ulceration is common ,some times
complicated by bleeding.
Coagulation Pathway
The coagulation takes place in the following stages

1. Pre injury phase

2. Early haemostatic response
3. Fibrin clot formation
4. Limiting clot formation

Coagulation cascade
● It is chain or cascade of reactions that
take place due to the coagulation
factors in response to tissue injury for
fibrin formation
● It consists of 3 1.
pathways
Intrinsic pathway
2. Extrinsic pathway
3. Common pathway
 Coagulation disorders
● These are the disorders of
bleeding due to defects in
coagulation pathway
● These can either be
1. Congenital
2. Acquired
HAEMOPHILIA A
● Factor VIII deficiency
● Most common congenital disease
● Factor VIII is synthesised by liver and endothelial cells

GENETICS
● Gene for factor VIII is on X
chromosome
● Sex linked disorder
● Mutations involved include :
1. Inversion
2. Deletion
3. Missense
4. Nonsense etc
MANAGEMENT
PROPHYLAXIS :
● Bispecific monoclonal antibody-
Emicizumab
● Half life recombinant factor VIII
● New products produced by Fc
fusion and
pegylation/glycopegylation that
extend the half-life of the
coagulation factor to the
degree that it can be used to
alter dosing schedules for
TREATMENT:
● Factor VIII concentrates are freeze-dried and stable at 4°C
and can therefore be stored in domestic refrigerator
● Stopping the bleed either by splint or other methods followed
by physiotherapy for mobility
● The vasopressin receptor agonist desmopressin raises the
vWF and factor VIII levels 3–4-fold, useful in arresting
bleeding in patients with mild or moderate haemophilia A.
(0.3μg/kg, and is given intravenously or
subcutaneously. 300ug by intranasal route)
COMPLICATION OF COAGULATION THERAPY:

● Before 1986, coagulation factor concentrates from human

plasma were not fully virus-inactivated
● Infections caused - HIV, HBV/HCV ,variant Creutzfeldt–Jakob
disease (vCJD)
● development of anti-factor VIII antibodies
1. Arise in about 25% of those with severe haemophilia
2. Neutralise therapeutic infusions
3. Emicizumab has a major role in the treatment of patients with
haemophilia A who have developed inhibitory antibodies.
 HAEMOPHILIA B ( CHRISTMAS DISEASE)
Aberrations of the factor IX gene, which is also present on the X
chromosome
reduction of the plasma factor IX level. haemophilia B
● Haemophilia A>Haemophilia B
● Treatment: factor IX concentrate , extended half-life recombinant
factor IX products made by Fc fusion, albumin fusion and pegylation
offer the possibility of prophylaxis on a once-weekly or even two-
weekly schedule
● Do not induce inhibitory antibodies , in rare case it is like allergic
reactions
 VON WILLEBRAND DISEASE
● Common and usually mild
bleeding disorder caused by a
quantitative or qualitative
deficiency of von Willebrand
factor (vWF).
● Deficiency of vWF leads to
impaired platelet plug
formation
● Chromosomes 12 have the
gene for vWF
 Clinical features
● Superficial bleeding
● Epistaxis
● Menorrhagia
● Gastrointestinal haemorrhage
● Bleeding episodes are usually much less frequent
● Within a single family, the disease has variable penetrance
 MANAGEMENT
● Many episodes of mild haemorrhage—> Desmopressin
● Mucosal bleeding —> Tranexamic acid
● Severe and persistent bleeds —> factor VIII + vWF
recombinants
● Desmopressin is contraindicated in
1. Type 2 B patients as they develop thrombocytopenia
2. Young children
3. patients with severe arterial disease
● Bleeding in type 3 patients responds only to factor VIII/vWF
concentrate.
RARE INHERITED BLEEDING DISORDERS
● Severe deficiencies of factor VII, X and XIII occur as
autosomal recessive disorders.
● Associated with severe bleeding
● Typical features include haemorrhages from the umbilical
stump and intracranial haemorrhage
● Factor XIII deficiency in women is typically associated with
recurrent fetal loss
● Factor XI deficiency may occur in heterozygous or
homozygous individuals
● Severe bleeding is conned to patients with levels below 15%
of normal
 ACQUIRED BLEEDING DISORDERS
Renal failure

● Bleeding manifestations are those of platelet dysfunction, with

gastrointestinal haemorrhages
● CAUSE- They are multifactorial—>
anaemia, mild thrombocytopenia and the accumulation of low-
molecular-weight waste products , that inhibit platelet function
● Treatment—>
1. Dialysis
2. Platelet concentrate infusion
3. Red cell infusion
4. Increasing the concentration of vWF
Liver Disease

● Major bleeding, is often from structural

abnormalities such as oesophageal
varices or peptic ulcer, and sepsis and
volume overload are common
precipitants of bleeding.
● Treatment- plasma transfusion,
platelet transfusion, Vitamin K
DISSEMINATED INTRAVASCULAR
COAGULATION
● Systemic coagulation activation
is induced by either by cytokine
pathway or the procoagulant
substance
● In addition, suboptimal function
of the natural anticoagulant
pathways and dis regulated
fibrinolysis contribute to DIC.
● The lysis of fibrin clot results in
production of fibrin degradation
products (FDPs), including D-
dimers
 Management
● Therapy primary aim : at
underlying cause
● Intensive care to deal with
concomitant issues, such as acidosis,
dehydration, renal failure and
hypoxia
● Blood component therapy - when
patient bleeds a-lot
● Prophylactic dose of heparin
● Anti fibrinolytic therapy is
contraindicated
Thankyou !