HEMOSTASIS, BLEEDING AND CLOTTING DISORDER

Presented by :Nik Khairiyah Bt Raja Mohammed

Mohamad Nizar B. Muhamad YatimNuradibah Bt Shahrul

Nuramalina Bt Ahmad Ehsan

IN THE ABSENCE OF BLOOD VESSEL DAMAGE :

platelets are repelled from each other and from endothelium of blood vessel.

endothelial cell secretes prostacyclin and nitric oxide (NO) -act as vasodilator & inhibit platelet aggregation.

plasma membrane of endothelial cell contain enzyme (CD39) - breakdown ADP to AMP + Pi.

NORMAL HEMOSTASIS Def : consequence of tightly

regulated processes that maintain blood in a fluid, clot-free state in normal vessels while introducing the rapid formation of a localized hemostatic plug at the site of vascular injury.

- from Robbins Basic Pathology 8th edition Mechanism

vasocontriction formation of platelet plug coagulation cascade fibrinolysis

NORMAL HEMOSTASIS

COAGULATION CASCADE

NORMAL HEMOSTASIS

BLEEDING DISORDER

Def : Bleeding disorders is a general term for a wide range of medical problems that lead to poor blood clotting and continuous bleeding.

characterized clinically by abnormal bleeding, which can either be spontaneous or become evident after some inciting event.

can result from : defects in the blood vessel abnormalities in the blood itself

blood clotting factor platelet

Source from : National Haemophilia Association

Source from : Nelson Essential of Pediatrics 5th edition

DIAGNOSTIC APPROACH

a) age of onset - neonate - toddler - adolescent

1) Identify clinical featuresb) family history - family tree - gender

d) pattern of bleeding - mucous membrane bleeding & skin haemorrhage - bleeding into muscles or into joints - scarring and delayed haemorrhage

c) bleeding history - previous surgical / dental procedure - presence of systemic disorder - drug history - unusual pattern or inconsistent history

Source from : Tom Lissauer, Graham Clayden Illustrated Textbook of Paediatric 3rd edition

2) SCREENING TESTTest Mechanism

TestedNormal Value Disorder

Bleeding time (BT)

Hemostasis, capillary & platelet

function

3-7 min beyond neonate

Thrombocytopenia, von

Willebrand disease

Platelet count Platelet number 150 000 – 450 000 / mm^3

Thrombocytopenia

Prothrombin time (PT)

Extrinsic & common pathway

< 12 sec beyond neonate; 12-18

sec in term neonate

Defect in Vit K-dependent factor, liver disease, DIC

Activated partial

thromboplastin time (APTT)

Intrinsic & common pathway

25-40 sec beyond neonate;

70 sec in term neonate

Hemophilia, von Willebrand

disease, DIC

Source from : Nelson Essential of Pediatrics 5th edition

in neonate (term infant), the level of all clotting factors except factor VIII & fibrinogen are LOWER, much lower in preterm infants.

therefore, the results have to be compared with normal values in infants of a SIMILAR GESTATIONAL & POSTNATAL AGE.

sometimes necessary to exclude an Inherited Coagulation Factor Deficiency by testing the coagulation of both parents.

THANK YOU….

PLATELET DISORDER, WHAT IS IT?

MUHAMMAD NIZAR BIN MOHAMMAD YATIM

WHAT IS PLATELET ?

Oblong disk shape Size- 2-4 µm on the long axis Volume- 5-12 fL Produced in bone marrow by

megakaryocte cell Platelet count in blood- 150,000-350,000

µL Life span- ???? Function- ??

CLASSIFICATION OF PLATELET DISORDERS Quantitative disorder Abnormal distribution Dilution effect Decreased production (leukemia and some

anemia) Increased destruction Qualitative disorders Inherited disorders (rare) Acquired disorders (medication, chronic renal

failure, cardiopulmonary bypass)

Platelet Disorders

Thrombocytopenia Platelet dysfunction

PRIMARY

ITPTTPTAR syndromeWiskott-Aldrich syndromeNeonatal isoimmune

SECONDARY

Malignancy

Aplastic anemia

DIVC

Sepsis

Drug-induced

Hemolytic-uremic syndrome

Hypersplenism

Autoimmune(SLE)

HIV

Glanzmann’s thrombasthenia

Bernard-Soulier syndrome

THROMBOCYTOPENIA

Defined as reduced in the platelet count< 150, 000µL that characterized by

spontaneous bleeding, a prolonged bleeding time, and a normal PT and

PTT.

The risk of bleeding depends on the level of the platelet count:

Mild thrombocytopenia (platelet <150 000 cells/µL)

Moderate thrombocytopenia (platelet 20 000 - 50 000 cells/µL)

Severe thrombocytopenia (platelet <20 000 cells/µL)

Sign and symptom• bruising, petechiae, purpura and

mucosal bleeding (epistaxis @ gum bleeding)

• major haemorrhage like severe GI bleeding, intracranial bleeding or haematuria is less common

• normal platelet count may present in platelet dysfunction

Aetiology

Decreased production of

platelets

Increased platelets

destruction

Sequestration

Dilutional

Nonimmunologic destruction (HUS, TTP,DIC, CHD)

Immunologic destruction (ITP, SLE , Alloimmune neonatal

thrombocytopenia)

Acquired (aplastic anaemia, marrow infiltration, drug

induced )

Congenital (Fanconi anaemia, Wiskot-Aldrich Syndrome

Hypersplenism

Massive blood transfusion

1.IDIOPATHIC THROMBOCYTOPENIC PURPURA (ITP)

• DEFINITION Isolated thrombocytopenia with otherwise normal

blood count in a patient with no clinically apparent associated conditions that can cause thrombocytopenia (such as HIV infection, SLE, lymphoproliferative disorders, alloimmune thrombocytopenia, and congenital or hereditary thrombocytopenia).

Caused by immune- mediated destrcuction of circulating platelet d/t anti-platelet autiantibodies

There are two clinical subtypes of ITP:o Acute ITP.o Chronic ITP (starts after the disease has been

present for > 6 months).

FEATURE OF ACUTE AND CHRONIC ITP

Feature Acute ITP Chronic ITP

Peak age Children (2-6 yrs) Adults (20-40 yrs)

Female:male 1:1 3:1

Antecedent Infection Common Rare

Onset of symptoms Abrupt Insidious

Platelet count at presentation

<20 000 <50 000

Duration 2-6 weeks Long term

Spontaneous remission

Common Uncommon

PATHOGENESIS

Inappropriate immune recovery follows an acute viral infection in children.

Autoantibodies (IgG or IgM) directed against platelet membrane antigens (especially

glycoprotein complex IIb/IIIa).

Phagocytosis of antibody-coated platelets by the reticuloendothelial system.

Increased destruction of platelets – Thrombocytopenia.

CLINICAL MANIFESTATIONS

Onset is usually sudden for acute ITP and in chronic ITP, it is insidious onset.

Petechiae or purpura Feet, legs, arms, and buttocks.

Mucosal bleeding. Palatal petechiae, epistaxis, hematuria,

menorrhagia, GI bleeding.

Rarely, intracranial hemorrhage may occur in long standing severe thrombocytopenia.

DIAGNOSIS

• History taking.• Physical examination.

o Signs of bleeding (petechiae and purpura). o Mucosal bleeding.

• Investigations.o Full blood count.

Low platelet count.o Histological findings.

Platelets are normal in size or may appear larger than normal.

Normal red blood cells morphology. Normal white blood cells morphology.

o Coagulation tests. Prolong bleeding time, normal PT and

PTT.

Not all children with acute ITP need hospitalization. Treatment is indicated if there is:

Life threatening bleeding episode (e.g. ICH) regardless of platelet count.

Platelet count < 20,000/mm³ with mucosal bleeding.

Platelet count < 10,000/mm³ with any bleeding. Choice of treatment:

• Oral prednisolone - 4 mg/kg/day for 7 days, taper and discontinue at 21 days.

• IV Methylprednisolone - 30 mg/kg/day for 3 days.• IV Immunoglobulin - 0.8 g/kg/dose for 1 day OR

250 mg/kg for 2 days.• IV Anti-Rh(D) immunoglobulin - (50 – 75 µ/kg) in

Rhesus positive patients – may cause haemolytic anaemia.

TREATMENT & MANAGEMENT

Splenectomy is only for life threatening in acute ITP

For chronic ITP: Repeated treatment with IV

immunoglobulin or IV anti-D or high dose pulse steroids are effective in delaying the need for splenectomy

Splenectomy is effective in inducing remission in 70-80% of childhood chronic ITP

COMPLICATION

Intracranial hemorrhage - 50% mortality rate.

Risk of ICH highest in: Platelet count < 20 000/mm³. History of head trauma. Uses of aspirin (inhibitor of platelet

aggregation). Presence of cerebral arteriovenous

malformation.

50% of all ICH occurs after 1 month of presentation, 30% after 6 months.

2. HEMOLYTIC UREMIC SYNDROME (HUS)

Related to TTP in which the number of platelets suddenly decreases, RBC are destroyed and the kidney stop functioning

HUS is rare, but can occur with certain bacterial infection (E.coli or shigella dysenteriae) and with the use some drugs (quinine, cyclosporine, mitomycin C)

Toxin producing organism such as E.coli cause endothelial damage that activates localized clotting, leading to platelet aggregation and consumption

Common in infants, young children and pregnant women

3.THROMBOTIC THROMBOCYTOPENIC PURPURA

(TTP)• Resembles hemolytic uremic

syndrome but occur more commonly in adults than in children

• Spontaneous aggregation of platelets and activation of coagulation in small blood vessels

• In TTP, platelet consumption, precipitated by a congenital or acquired deficiency of metalloproteinase that cleaves vWF

Features TTP HUS

Onset Young adults Infants and children

Predisposing factors

Following stem cell transplantation

(donor is unrelated).

Following gastroenteritis - Escherichia coli .

Clinical findings Microangipathic hemolytic anemia.Thrombocytopenia.

Renal dysfunction – hematuria.

Additional findings

Neurologic disturbances.

Fever.

Abdominal pain. Bloody diarrhea.

THROMBOTIC THROMBOCYTOPENIC PURPURA (TTP) HEMOLYTIC – UREMIC SYNDROME (HUS)

Severe deficiency of the vWF – cleavage protease Platelet activation Platelet thrombi formation.

4.MARROW INFILTRATION EG: LEUKEMIA

A progressive, malignant disease of the blood forming organs, marked by distorted proliferation and development of leukocytes and their precursors in the blood and the bone marrow

Overproduction of these white cells, which are immature or abnormal forms, suppresses the production of normal WBC, RBC and platelets

Lead to increase susceptibility to infection,anemia and bleeding

CLINICAL PRESENTATION Result from infiltration of bone marrow or

other organs with leukemic blast cells Mostly presents insidiously over several

weeks with some or all of following signs and symptoms:

Malaise Infections Pallor Abnormal bruising Hepatosplenomegaly Lymphadenopathy Bone pain

Progress rapidly in some children Blood count is abnormal, low

hemoglobin,thrombocytopenia and evidence of circulating blast cells in most children

Bone marrow examination to confirm the diagnosis

5.DISSEMINATED INTRAVASCULAR COAGULATION (DIC)

Disorder characterized by coagulation pathway activation leading to diffuse fibrin deposition in the microvasculature and consumption of coagulation factors and platelets.

Occurs as secondary complication of variety diseases.

Caused by the systemic activation of coagulation pathways, leading to formation of thrombi throughout the microcirculation and widespread thromboses. There is consumption of platelets and coagulation factors and secondarily activation of fibrinolysis. As consequence, there is depletion of the elements required for hemostasis ( consumptive coagulopathy)

May be acute or chronic.

Initiated through the tissue factor pathway.

The commonest causes of activation of coagulation are severe sepsis or shock due to circulatory collapse, e.g in meningococcal septicemia or extensive tissue damage from trauma or burn.Infectious

•Meningococcemia•Other gram –ve bact (Salmonella, E.coli, Haemophilus)• Virus (CMV, herpes, hemorrhagic fevers)• Rickettsia, Malaria and fungus

Tissue injury• CNS trauma, crush

injury• Multiple fracture with

fat emboli• Profound shock of

asphyxia• Hypothermia/

hyperthermia• Massive burns

Malignancy• Acute promyelocytic

leukemia• Acute monoblastic or

myelocytic leukemia• widespread

malignancies (neuroblastoma)

Venom/ toxin• Snake bites• Insect bites

Microangiopathic disorder• Severe TTP/ hemolytic

uremic syndrome• Giant hemangioma

GIT disorder• Fulminant hepatitis

• severe IBD• Reye syndrome

Hereditary thrombotic disorders

• Antithrombin iii def.

• Homozygous protein C def.

Newborn• Maternal toxemia• G. B strep. Infection• Abruptio placentae• Congenital viral disease

(CMV, herpes)

Causes ofDIC

Miscellaneous• Severe acute graft

rejection• Acute hemolytic transfusion reaction• Heparin induced

thrombosis

PATHOPHYSIOLOGY OF DICMassive tissue

destruction

sepsisEndothelial

injury

Release of tissue factor Platelet

aggregation

Widespread microvascular

thrombosis Consumption of clotting factors and

platelets

Ischemic tissue damage

fibrinolysisVascular occlusion

Microangiopathic hemolytic

anemia

Activation of plasmin

Proteolysis of clotting

factor

Fibrin split products

Inhibition of thrombin, platelet aggregation and

fibrin polymerization

bleeding

CLINICAL COURSE

The diagnosis of DIC usually suspected clinically and confirmed by a laboratory finding of a decline in platelets and fibrinogen associated with elevated PT time, PTT time, levels of fibrin(ogen) degradation products and D-dimers.

There is also marked reduction of naturally occuring anticoagulants, protein C, S and antithrombin.

In severely ill patient, there will be sudden occurrence of bleeding from venepuncture or incision site, gastrointestinal or pulmonary hemorrhage, petechiae or ecchymosis or evidence of peripheral gangrene or thrombosis.

CLINICAL COURSE

Depending on the balance between clotting and bleeding tendencies.

In acute DIC (e.g., associated with obstetric complication) is dominated by a bleeding diathesis.

In chronic DIC (e.g., as occur in an individual with cancer) tends to present with symptom related to thrombosis.

Typically, the abnormal clotting occurs only in the microcirculation, although large vessels are involved occasionally.

TREATMENT

Treat the disorder inducing the DIC first such as sepsis. Support the patient by correcting hypoxia, acidosis and

poor perfusion. Replace depleted blood clotting factors, platelets and

anticoagulant proteins by transfusion. Heparin may be used to treat significant arterial or venous

thrombotic disease unless sites of life-threatening bleeding coexist. Thus, the use of heparin remains controversial.

Treatment with anticoagulants or coagulants contained in fresh-frozen plasma usually needed in acute case.

Drotregocin alfa (recombinant activated protein C) reduces mortality in adults with DIC and sepsis.

DISORDER OF PLATELET FUNCTION

• Bernard-Soulier syndrome• Deficiency of glycoprotein Ib

complex (vWF receptor)• Autosomal recessive coagulapathy• Abnormally large platelets

• Glanzmann thrombasthenia• Deficiency of glycoprotein IIb-IIIa

(fibrinogen receptor)• Bleeding time is prolonged

CLOTTING DISORDERNUR ADIBAH BINTI SHAHARUL

TOPIC CLASSIFICATION

Primary(Inherited)

•Haemophilia•von Willerbrand Disorder

Secondary(Acquired)

•Vitamin K Deficiency•Hepatic Failure

CASE STUDY

A 15 years old girl comes to your clinic with complain of heavy menses (menorrhagia). She also complain sometimes she had mild nose bleed (epistaxis) and easy bruising. She had previous surgical history of tonsillectomy at 6 years of age, which required blood transfusion for excessive bleeding. Her mother required a hysterectomy after giving birth to her younger brother because of excessive hemorrhage. Her mother is planning for her brother to join for circumcision in this school holiday.

HAEMOPHILIA – OVERVIEW

A group of blood disorders in which there is defect in clotting factors

70% are X-linked recessive disorder. 30% spontaneous mutation.

The bleeding patterns of haemophilia are similar.

Types : A:Deficiency in factor VIII (classic haemophilia) B: Deficiency in factor IX (Christmas disease) C: Deficiency in factor XI

HAEMOPHILIA - CLASSIFICATIONClassification Clinical Manifestation

Severe(<1% of normal)

• Manifest in infancy when child reaches toddler stage• Spontaneous bleeding – in muscles or joints (haemarthroses)• Excessive bleeding after minor trauma, postoperatively, or after intramuscular childhood vaccinations.

Moderate(1-5% of normal)

• Manifest after 2 years of life• Moderate trauma causes bleeding episodes• Occasionally spontaneous bleeding occurs

Mild (>5% - <40% of normal)

• Often diagnosed in teenagers and adults• Significant trauma to induce bleeding• No spontaneous bleeding

HAEMOPHILIA – CLINICAL MANIFESTATION Haemarthrosis (spontaneous

bleeding in muscle or joints - painful) Illiapsoas bleeding Joint Swelling Easy bruising Epistaxis Haematuria Intracranial hemorrhage

HAEMOPHILIA - INVESTIGATION

Full blood count Activated partial thromboplastin time

(aPTT) – PROLONGE Normal Prothrombin Time, Platelet Count,

Bleeding Time. Specific factor assay : VIII or IX - LOW Joint x-ray Further Investigation

Hepatitis B, Hepatitis C, HIV serology Diagnosis for carrier status for genetic counseling

HAEMOPHILIA - TREATMENT

First aid: Pressure, Rest, Ice, Elevation (PRICE) Blood transfusion – severe blood lost Factor concentrates; continuous infusion

(severe) or intermittent bolus (prophalaxis). Factor VII given every 8-12 hours Factor IX given every 12-24 hours

Desmorpressin acetate (DDAVP); mild & moderate, not for severe.

Antifibrinolytics: Aminocaproic acid (Amicar) Fresh Frozen plasma (high risk for virus)

HAEMOPHILIA - COMPLICATION

Factor concentrate infusion at home as prophylaxis; Repeated venopuctures Need for venous access Availability Cost

Developed Inhibitors ?????? Joint destruction; inflammation, swelling,

fibrosis. Acquisition of virus (Hep B, Hep C, Hep D & HIV)

HAEMOPHILIA - INHIBITORS

It’s a IgG antibodies directed against transfused factor VIII (30%), rarely happens with factor IX (2%)

Making treatment for haemophilia difficult.

Can be low titer Porcine factor VIII or continue infusion of factor VIII.

Can be high titer recombinant factor VIIa as bypassing agent.

VON WILLERBRAND DISORDER - OVERVIEW

Most common hereditary deficiency caused abnormality in von Willerbrand protein.

Functions on both primary & secondary homestasis. 1. To act as bridge between

subendothelial collagen and platelets 2. Bind and protect factor VIII from rapid

clearance then delivers it to site of injury.

VON WILLERBRAND DISORDER - TYPES Type I (70%-80%) – Quantitative,

Partial decrease in quantity vWF Mild clinical symptoms

Type 2 (15%-20%)– Qualitative, Decrease affinity toward Factor VIII and

platelet Type 3 – Quantitative,

Absence of von Willerbrand factor Severe clinical symptoms Lack of response to Desmorphine (DDAVP)

CLINICAL MENIFESTATION

Asymptomatic Mucous membrane bleeding

Epistaxis Cutaneus bleeding Gingival bleeding Menorrhagia

INVESTIGATION

Full Blood Count – platelet normal aPTT PROLONGE or normal Factor VIII LOW or normal. von Willerbrand Factor activity (ristocetin

cofactor) Ristocetin, an antibiotic that causes vWF to

bind to platelet taken from plasma. In healthy people, platelet rapidly agglutinate.

von Willerbrand Factor antigen Measure vWF protein and binding sites. Not accurate.

TREATMENT

Desmopressin (DDAVP) – Treatment of choice for patients with vWD types 1 and 2 .

Concentrate of von Willerbrand Factor (Humarate P) when high levels of vWF are needed but cannot achieved with DDAVP (type 3)

Contraceptive for menorrhagia Clot-stabilizing medications 

(antifibrinolytic medications) -

PROGNOSIS & COMPLICATIONS

Lifelong tendency toward easy bruising, frequent epistaxis, and menorrhagia.

Register with Malaysia Hemophilia Society.

Carry medic-alert bracelet or chain & carry books diagnosis, types etc.

VITAMIN K DEFICIENCY

3 main types of VK are K-1, phylloquinone, derived from plants; K-2, menaquinone, produced by the intestinal flora K-3, menadione which is a synthetic, water-soluble

form used for treatment. Required for synthesis of Plasma factor II, VII,

IX, and X Hemorrhagic disease in infant that breastfeed

exclusively. Give parenteral vitamin K (0.5 to 1 mg) to all

newborns shortly after birth.

HEPATIC FAILURE

Severe impairment of hepatic functions or severe necrosis of hepatocytes in the absence of pre-existing liver disease

Fatal for most affected children. The mortality rate may reach 80-90%

in the absence of liver transplantation.

Sources:1. Nelson, Essential of Peadiatrics2. Tom, Illustrated Textbook Paediatric3. Paediatric Protocol for Malaysians Hospitals4. http://www.emedicne.com/

5.

THANK YOU FOR YOUR ATTENTION.. QUESTIONS?

FIQH MEDIC

Should children with severe clotting disorder undergo circumcisions?

Can we infuse bovine or porcine products in medical treatment?

?

ANSWERS

von Willerbrand Disorder Circumcision is not compulsory, can if

only procedure is monitored by specialist & prohylaxis is available.

Can use porcine or bovine products as it has already undergone multiple process. Proceed with halal product if available.

NURAMALINA BT. AHMAD EHSAN

CAUSES OF BLEEDING:VASCULAR- NONHEMATOLOGIC

NELSON ESSENTIALS of PEDIATRICS, 5th EDITION; page 712

A vessel defect either congenital or acquired resulting in abnormal

bleeding despite an otherwise normal coagulation factor and

platelet.

PETECHIAE? PURPURA? ECCHYMOSES?

Child abuse Other trauma Vasculitis Ulcer Varices Ehler- Danlos syndrome Telangiectasia Angiodysplasia

VASCULAR- NON HEAMATOLOGIC

1. CHILD ABUSE

Trauma to blood vessels Physically Cutaneous purpura and petechiae

2. OTHER TRAUMA

ULTRAVIOLET RADIATION-severe sunburn

INFECTIOUS-bacterial, rickettsial, viral, protozoa,parasitic infections

EMBOLIC NEOPLASTIC- Langerhans cell histiocytosis

DRUG RELATED- penicillin, phenytoin

ALLERGIC- allergic/ contact dermatitis

Hematology Basic principle and practice, 4th edition.

Rocky mountain spotted fever

Langerhans cell histiocytosis

Contact dermatitis

Penicillin allergy

3. VASCULITIS

Henoch-Schonlein purpura

DEFINITIONVasculitis of unknown etiology characterized by inflammation of small blood vessel associated with leukocytic infiltration of tissue, hemorrhage, and ischemia.

EPIDEMIOLOGY•Incidence 13/100 000 children

•occur in children age 3-15 years.

•boys>girls

ETIOLOGY•Unknown.•Likely mechanism thought to be an immune-complex mediated disease with deposits of IgA in the glomerular capillaries, dermal capillaries and GI tract.•Mesangial deposition of IgA and C3 in the kidney.

1. Rash of palpable purpura: below the waist on the butocks and lower extremeties. Can be accompanied by edema of the calves,dorsum of the feet, scalp, and scrotum or labia.

CLINICAL MANIFESTATION

2. Athritis: acute, tend to affect the

lower extremeties; ankle and knees. joint swelling.

3. Gastrointestinal : mild to moderate crampy abdominal pain, abdominal distension, bloody diarrhea, intussusception or abdominal perforation.

4. Renal: heamaturia, hypertension

Elevated ESR, CRP and WBC count. Normal platelet count Urinalysis ( Hematuria ) Serum BUN and Creatinine Stool sample. CT scans show multifocal areas of bowel-wall thickening,

mesenteric edema, vascular engorgement, and nonspecific lymphadenopathy.

Renal biopsy may show IgA mesangial deposition and occasionally IgM, C3, and fibrin. Patients with IgA nephropathy may have elevated plasma antibody titers against H. parainfluenzae.

LABORATORY AND IMAGING STUDIES

Presence of 2 of 4 criteria: Palpable purpura- raises, palpable hemorrhagic skin

lesions in the absence of thrombocytopenia.

Bowel angina - diffuse abdominal pain or the diagnosis of bowel ischemia

Diagnostic biopsy- histologic changes showing granulocytes in the walls of arterioles or venules

Pediatric age group- age < 15 years at onset of symptoms

- Corticosteroid- NSAID

Diagnosis

Treatment:

5. VARICES

Varices?-Varices are dilated blood vessels ( veins) usually in the esophagus or stomach.- eg due to Portal hypertension.

The varices are fragile and can rupture easily, resulting in a large amount of blood loss.

Symptoms of bleeding varices include: Vomitting of blood Black, tarry, or bloody stool Low blood pressure Rapid heart rate Shock (in severe cases)

6. ULCER

Risk facor: H. Pylori

infection Drugs Family history Head trauma Burn injury

Clinical manifestation:

•Burning epigastric several hour after meal & night.•GI bleed (hematemesis,melena)

Investigation:•Endoscopy-mandatory with alarm symptoms•Test for H.Pylori •FBC•ESR•Amylase and lipase

Treatment:Omeprazole-clarithromycin-metronidazole (associate with H.pylori)AntacidsProton pump inhibitor

7. EHLER- DANLOS SYNDROME

Congenital disorder of defect in collagen synthesis.

Patient’s skin lacks its normal resistance to traction and can be easily pulled away from underlying structures.

This condition places blood vessels at great risk for disruption even with minor trauma

Cutaneous findings – hyperextensible and

fragile skin, poor wound healing, easy bruising,molluscoid pseudotumors.

Systemic features – joint hypermobility,

scoliosis, significant risk of spontaneous arterial, intestinal or uterine rupture

Diagnosis clinical observation. Both DNA and biochemical studies skin biopsy

Management There is no known cure for Ehlers

Danlos Syndrome. The treatment is supportive. Close monitoring of the

cardiovascular system.

MARFAN SYNDROME

An autosomal dominant disorder of the connective tissue.

Clinically symptoms mostly involve three systems: Cardiac ( dissecting aorta, aortic valve regurgitation,

mitral valve prolapse) MSK ( dolichostenomalia, arachnodactyly, abnormalities

of the sternum, kyphoscoliosis) Ophtalmology (dislocated lens, cataracts)

Diagnosed by :[ Diagnostic criteria for Marfan syndrome ]- **presence of 2 major criteria(organ systems) and 1minor criteria

( third organ system). [ NELSON ESSENTIALS of PEDIATRICS, 5th EDITION; page223 ]

Thin and tall body habitus arachnodacty

ly

Pectus carinatum

Pectus excavatum

8. TELANGIECTASIA

Congenital defects of the vessel wall that can result to abnormal bleeding tendency.

Eg: Hereditary hemorrhaghic telangiectasia Progressive degenaration of the vessel wall

leading to development of widespread angiomatous lesion.

On PE, small violaceous non pulsatile telangiectasias can be found over lips and mucous membrane.( They blanch with pressure).

This disease not limited to the skin– Telangiectasias in lung, liver.

9. ANGIODYSPLASIA

angiodysplasia is a small vascular malformation of the gut. it resembles telangiectasia.

common cause of unexplained GI bleeding (recurrent bleeding per rectum) and anemia.

cecum or ascending colon Diagnosis of angiodysplasia is often

accomplished with endoscopy, either colonoscopy or EGD.

Colonoscopy of angioydsplasia in the Sigmoid colon

THANK YOU !