Platelet disorders

Quantitative - Thrombocytopenia

Qualitative - Platelet function disorders – Glanzmans

Coagulation disorders

Congenital - Haemophilia (A, B), Von-Willebrands

Acquired - Vitamin-K deficiency, Liver disease

Vascular disorders – Scurvy

Mixed/Consumption: DIC

Disorders of Hemostasis

F-XII

F-XI

F-VIII

F-IX

F-VII

F-X

F-V

F-II

Screening tests: Bleeding Time: Platelet deficiency

Prothrombin Time: Extrinsic, aPTT – Intrinsic

Thrombin Time – Common path. (DIC)

Specific tests: Factor assays – Hemophilia.

Platelet function studies:

Adhesion, Aggregation, Release tests.

Bone Marrow study: ITP

Tests of Hemostasis:

Local - Vs – General Hematoma / Joint Bleeds- Coagulation defects Skin / Mucosal Bleeds – PLT

Wound / Surgical bleeding: Immediate - PLT Delayed - Coagulation

Bleeding: Clinical Features

Symptom Platelet Coagulation

Petechiae Yes No

Sites Skin & Mucosa

Deep Tissue

Time Immediate Delayed

Ecchymoses/Hematomas

Yes Yes

Most common hereditary disease,

Cause:

... Factor - VIII deficiency [ Procoagulant]

Inheritance Pattern:

… X - linked recessive trait,

[ Sufferers - Invariably males,

Females - homozygous,

- unfavourable lionization,

… 30% no family history [ new mutations ]

HAEMOPHILIA – A:

Clinical severity:

< 1% of normal activity --- severe,

2 to 5% ” --- moderate,

6 to 50% ” --- mild,

Physiological activity > Type of mutation,

Clinical manifestations:

Petechiae are absent,

Large ecchymoses

Prolonged bleeding

Hemarthroses

Hematomas

HEMOPHILIA - A :

After minor injury

or surgery

( tooth extraction )

Laboratory Investigations: Bleeding Time = Normal,

Platelets = Normal,

Prothrombin time = Normal,

Clotting time

Partial Thromboplastin Time

Haemophilia - A:

Prolonged

CLINICAL MANIFESTATIONS:

Clinically indistinguishable from

Haemophilia - A

DIAGNOSIS:

Factor Assay only;

HAEMOPHILIA - B[ CHRISTMAS DISEASE, FACTOR - IX DEFICIENCY ]

Various hemorrhagic diseases and tests:

DIC: Prolonged aPTT, PT, D-dimer assay +

Decreased PC

Hemophilia Prolonged aPTT, Normal PT, PC

D-dimer assay (-) Decreased F VIII,

Vit K def. Normal aPTT, Prolonged PT, N-PC

D-dimer assay (-) Decreased Vit K stores

vWD Prolonged aPTT, Normal PT, PC

D-dimer assay (-) Decreased vWF, VIII

ITP Normal aPTT, PT, Decreased PC

D-dimer assay(-) Normal vWF, VIII