Hereditary Coagulopathy Mohammad reza baghaipour, MD - PowerPoint Presentation

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Hereditary CoagulopathyMohammad reza baghaipour, MDPediatrician, ISTH FellowComprehensive Hemophilia Care Center,Tehran, Iran

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Bleeding disordersMay be:AcquiredAtuoimmuneDrugInheritedThrombocytopenia

Platelet

function

disordersAbnormal collagen Clotting factor deficiencies1 in 5000 to 1m

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MenorrhagiaMenorrhagia most common symptom in women with bleeding disorders.( > 7days, > 80 ml )vWD 74- 92% (13 % - vWD)BS 51% GT 98%

Carriers 57%

F XI Def 59%

Rare BD 35-70%Adolescent girls and perimenopause women 3

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MenorrhagiaAssess hemoglobin content using the alkaline hematin methodPictorial blood assessment chart

(PBAC)

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MenorrhagiaIn most situations, practitioners must rely on menstrual history and clinical impression. Variables that can predict a menstrual blood loss of more than 80

mL are:

P

assage of clots greater than one inch (2.5 cm) Low ferritinThe need for changing a

pad or

tampon more than

hourly

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Menorrhagia (Complete bleeding history):Menorrhagia since menarche

Family

history of a bleeding disorder

Personal history of one, but usually several, of:*Epistaxis *Notable bruising without

injury

*Minor

wound

bleeding *Bleeding

in the oral

or gastrointestinal tract

*Bleeding following dental extraction

*Unexpected

post-surgical

bleeding

*Recurrent

midcycle

pain due to

ovulation bleeding*Hemorrhage requiring blood transfusion*Postpartum hemorrhage, especially secondary postpartum hemorrhage (after 24 hours).

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Menorrhagia ( Lab test )CBCB/GFerritin levelPTTPT

vWF

Ag / Act

FVIII levelsPlatelet function testSpecific Factor Assay7

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Other Gynecological ConditionsDysmenorrhea-NSAID (should be avoided)AcetaminophenHormonal TherapyHemorrhagic ovarian cystsconservative management with the

use of appropriate hemostatic

agents

Endometriosis, fibroids (leiomyoma), polyps, or endometrial hyperplasia8

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HemophiliaHemophilia is the commonest severe bleeding disorderHemophilia A (factor VIII deficiency)Hemophilia B (factor IXdeficiency)

X-

linked

disordersone in 5,000 menWomen are affected as carriersCarriers may also have low factor levels

Experience

significant bleeding symptoms

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von Willebrand disease (VWD)Most common inherited bleeding disorderAutosomal disorders and equally affect women and menLarge epidemiological studies reported a 0.8-1.3% prevalenceWomen are more

likely to be symptomatic due to the

bleeding challenges

of menstruation and childbirth 10

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Management of menorrhagia (adolescent )Counseling prior to menarchePreserving future fertilityImmunization12

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Pregnancy in Women with BleedingDisordersPreconception counselling:Specially important for:Women with severe bleeding disorderspotentially

carry a severely affected

baby

Benefits:Adequate informationAvailable reproductive choicesOptions

for prenatal

diagnosis

How and where to terminate the pregnancy

Immunization

F

olic

acid

supplementation

Option for bleeding treatment (A DDAVP

test

dose )

Psychological

support

Speak with a pediatric hematologist regarding the care of a potentially affected child.13

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Prenatal diagnosis (PND)PND is primarily considered in carriers of hemophilia A or B50% Affected child50% Female carrier Autosomal disorder Sever formsConsanguineous marriage

CVS (11 -14 w) 1% risk

S

hould receive prophylaxis prior to any invasive procedureFetal sex determination ( Mother blood 5-10w) (Sono 12w)( if F, avoid testing, if M, avoid

instrumental

deliveries )

Pre-implantation genetic

diagnosis (PGD) using IVF

(overall live birth rate 22%)

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Antenatal managementNormal pregnancy: ↑ Several coagulation factors including VIII, VWF, fibrinogen ↓

F

ibrinolytic

activity due to ↑plasminogen activator inhibitorsCarrier and affected female:This rise is not enough and still risk of bleedingAssay factor level at booking, 28w and 34wwomen with deficiencies of fibrinogen or factor XIII

:

↑ Miscarriage and

placental abruption resulting in fetal loss

or preterm delivery

Factor

replacement

is recommended

Approximately 20% of

all pregnancies

are complicated by at least one

bleeding episode

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Management of labor and deliveryExperienced ObstetricsHematologist with expertise in hemostasisLaboratoryPharmacyBlood bank support

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Management of labour and deliveryMother with Bleeding tendency:CBC, B/G, Factor level ( PT, PTT, PLT ) DDAVP ? ( safe for Mom & Inf, Water intoxication for OXY and Fluid )Coagulation Factors are safe ( recombinant is preferred, PB19) V/D versus C/S

Potentially affected fetuses:

Avoid Invasive intrapartum monitoring technique(

fetal scalp electrode, fetal blood sampling)Avoid instrumental deliveries (ventouse

,

midcavity

or rotational forceps

)

Normal

vaginal delivery is

not absolutely contraindicated (

Avoid prolonged

labour

)

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Management of labour and deliveryPotentially affected fetuses:Cesarean section may not completely eliminate the risk bleedingEarly recourse to cesarean section should be considered to minimize the risk

Cranial US

If traumatic delivery

Factor Replacement if clinical signs suggestive bleeding in neonateIntramuscular injections should be avoided ( oral Vit

K, site Pressure)

Heel sticks

should also have pressure applied

for five minutes

Any

surgical procedures

(e.g.

circumcision) should

be

delayed

Some factors (

eg

.

vit K dependent F ) take time to get normal (6-12 mo)18

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Postpartum managementThe most common causes of PPH:Uterine atony, retained placenta, placenta pieces, and genital tract traumaAfter the delivery, the elevated coagulation factors return to pre-pregnancy levels. ( Factor assay is necessary )

Therefore, the main risk of bleeding is after miscarriage or

delivery

Primary PPH (blood loss of more than 500 mL in the first 24 hours after delivery)

S

econdary PPH (

excessive bleeding occurring

between 24 hours and six weeks

post delivery)

Perineal/vaginal

hematoma are rare

complications

Reducing the risk of

PPH

prophylactic

replacement therapy

three to

four days for vaginal deliveryfive to seven days for cesarean section22

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Postpartum managementActive management of the third stage of labor is very importantLocal causes should be excluded even in women with bleeding dis.Administration of prophylactic uterotonicsEarly cord clamping

C

ontrolled

traction of the umbilical cordMeticulous surgical hemostasisCare to minimize maternal genital and perineal traumaOral tranexamic

acid

Combined

oral contraceptive pills

C

lose

collaboration between

hematologists, obstetricians

, and anesthetists

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The Take-home message Bleeding Disorders are not rareReduces quality of life Not aware of their symptoms and do not seek medical

advice

Lack

of awareness among caregiversIts treatment needs teamwork24

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Thank you for your attention مرکز جامع درمان هموفیلی ایران پایین تر از میدان فاطمی تقاطع زرتشت و فلسطین 02188898742

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