Thrombophilic disorders–recognizing the complications and implications Flashcards
What is inherited thrombophilia or IT?
A predisposition to developing a venous thromboembolism due to genetic risk factors.
What are the 5 most common genetic causes for thrombophilic disorders?
- Factor V Leiden mutation
- Protein C deficiency
- Protein S deficiency
- Antithrombin deficiency
- Prothrombin G20210A mutation
What clinical ways can of venous thromboembolism manifest?
- Deep Vein Thrombosis DVT
- Pulmonary embolism
- Renal vein thrombosis
- Portal vein thrombosis
- Cerebral venous thrombosis
What clinical areas of special attention should be addressed and managed in the patient with test positive inherited thrombophilia?
- Selecting a method for contraception
- Pregnancy
- Surgeries
- Traumas
- Other situations that are considered high risk for thrombosis.
In a person with thrombophilic disorders what contraceptive counseling is necessary?
Estrogen containing contraceptives including the combined oral contraceptive pills, transdermal patch, or vaginal ring, significantly increase the risk of VTE from baseline.
What contraceptive method should be used in someone who has a thrombophilic disorder?
Safe methods of contraception options include progesterone only contraceptives, IUDs, subdermal implant. Nonhormonal, reversible contraceptives like copper IUD, condoms and diaphragms.
How does pregnancy affect blood clotting?
Pregnancy increases the risk of VTE.
What are some of the fetal and neonatal risks in the context of inherited thrombophilias?
Fetal demise
Cerebral palsy
Preterm birth
Perinatal stroke
Growth restrictions
What are the major areas in the body were thrombophilic disorders manifest?
- DVTs, lower and upper extremities
- Pulmonary embolism
- Renal vein thrombosis
- Portal vein thrombosis
- Cerebral venous thrombosis
In what ways does a DVT in the lower extremities present in a child?
Usually complains of unilateral pain in either the leg, buttock, inguinal area, or abdomen. Other associated symptoms include leg swelling or discoloration.
Although rare, in what ways does a DVT in the upper extremity presented in a child?
Usually presents as unilateral arm and hand swelling and discoloration. They may also complain of either arm, hand, neck, shoulder, or axilla of the affected side. If if the superior vena cava is affected, that then swelling of the face may occur.
Although rare in children what clinical settings can PE be seen?
Severely sick children.
What signs and symptoms may be present when a child is presenting with PE?
Deterioration of cardiorespiratory status
Tachypnea,
Tachycardia,
Hypoxia,
Pleuritic chest pain,
Acute dyspnea,
Cough,
And sudden collapse
What underlying chronic diseases may increase her risk for renal vein thrombosis?
SLE, nephrotic syndrome, and renal transplantation.
What are some of the presenting symptoms of a patient with RVT?
Anuria
Hematuria
Proteinuria
And vomiting
