Idiopathic Thromboctopenic Purpura, Hemophilia

Question 1

ITP

Answer 1

Idiopathic thrombocytopenia(ITP) is a syndrome in which platelets becomecoated with autoantibodies to platelet membrane antigens, resulting in splenic sequestration and phagocytosis by mononuclear macrophages. The resulting shortened life span of platelets in the circulation, together with incomplete compensation by increased platelet production by bone marrow megakaryocytes, results in a decreased number of circulating platelets

There are currently three classifications of ITP:

Newly diagnosed (also referred to as acute) ITP— This form of ITP lasts for less than three months and typically affects children, most commonly those between the ages of 2 and 6. It usually appears shortly after a viral infection.

Persistent ITP: Here, the disease has been present for 3 to 12 months, and has not undergone spontaneous correction or remission on its own. It still is persistent in the face of several trials of treatment.

Chronic ITP— This form of ITP lasts for more than 12 months, usually strikes adults between the ages of 20 and 40, and requires medical treatment to restore normal platelet levels. Chronic ITP is three times more common in women than men. Typically, a person has weeks or months of mild to moderate abnormal bleeding off and on before seeing a doctor.

Diagnostic criteria of idiopathic thrombocytopenic purpura.

• No blood abnormalities other than low platelet count, no physical signs other than bleeding (esp. no splenomegaly)
• Secondary causes should be excluded (i.e. leukemia, medications, SL, cirrhosis etc.)
• All presumed ITP patient should be tested for HIV and Hepatitis C and those causes should also be excluded.

Treatment .
Platelet transfusions, possibly in conjunction with a continuous infusion of IVIG
6-8 U of platelet concentrate, or 1 U/10 kg
Recombinant factor VIIa (however, note the risk of thrombosis)
Antifibrinolytic agents (aminocaproic acid, tranexamic acid)
Either prednisone (0.5-2.0 mg/kg per day) or dexamethasone (40 mg per day for 4 days) as the type of corticosteroid for initial therapy

Question 2

Hemophilia

Answer 2

Hemophilias are common hereditary bleeding disorders caused by deficiencies of either clotting factor VIII or IX. The extent of factor deficiency determines the probability and severity of bleeding. Bleeding into deep tissues or joints usually develops within hours of trauma

• mild hemophilia(>5% to <40% factor activity), bleeding is often infrequent and typically occurs only after injury, trauma, or surgery, including dental procedures. About 25% of people with hemophilia have a mild form of the condition.
• moderate hemophilia(1% to 5% factor activity), bleeding tends to occur after minor injuries; incidents of spontaneous bleedingwithoutan obvious cause may occur, but it is rare. About 15% of people with hemophiliahave a moderate form of the condition.
• severe hemophilia(<1% factor activity), you may experience bleeding after injury, trauma, or surgery; however, you may also experience spontaneous bleeding into joints and muscles. Repeated bleeding into joints can cause a joint condition known as hemophilic arthropathy, that can result in physical disability. About 60% of people with hemophilia have a severe form of the condition.

1. Hemophila A- x linked
   2 Hemophila B- x linked
2. Hemophilia C - autosomal recessive

Hemophilia A( factor VIIIdeficiency):∼ 80%of cases
• Hemophilia B(factor IX deficiency):∼ 20%of cases
• Hemophilia C(factor XIdeficiency): very rare (increased frequency in
Ashkenazi Jews);caused by anautosomal recessivedefect

Diagnostic criteria of hemophilia.
o Consistent bleeding history
o aPTT is prolonged but corrects with mixing study
o PT/INR & von Willebrand Factor antigen are normal
o Then, individual factor activity are measured to
• Confirm diagnosis
• Establish type -> Factor 8 = Type A; Factor 9 = Type B; Factor 11 = Type C
• Assess severity according to blood clotting factor level (Mild = 5-40%, Moderate 1-5%, Severe – below 1%)

Treatment of hemophilia.

• Avoidance of aspirin-containing compounds.
• antifibrinolytic agent eg epsilon aminocaproic acid (EACA)
• hemophilia B-if mild we can give the patient FFP(fresh frozen plasma)
• hemophilia B-in life- threatening situation, prothrombin complex concentrates are the treatment of choice
• replacement therapy-main treatment for severe hemophilia involves receiving replacement of the specific clotting factor that you need through a tube placed in a vein
• Desmopressin-mild hemophilia, this hormone can stimulate your body to release more clotting factor
• Physical therapy. It can ease signs and symptoms if internal bleeding has damaged your joints