bleeding disorders

Question 1

What is a bleeding disorder?

Answer 1

An issue with the blood clotting process, which can lead to abnormally heavy and prolonged bleeding. Bleeding can be spontaneous.

Question 2

What are some causes of abnormal bleeding?

Answer 2

Blood vessel/vascular disorders, platelet disorders, and coagulation pathway disorders.

Question 3

What are some examples of blood vessel/vascular disorders that can cause abnormal bleeding?

Answer 3

Hereditary haemorrhagic telangiectasia and collagen abnormalities.

Question 4

What is hereditary haemorrhagic telangiectasia?

Answer 4

An uncommon inherited disorder that causes dilated microvascular swellings in various parts of the body, including the skin, mucous membranes, and internal organs. Symptoms can include nosebleeds and GI bleeds.

Question 5

How is hereditary haemorrhagic telangiectasia inherited?

Answer 5

It is inherited in an autosomal dominant manner.

Question 6

What are collagen abnormalities?

Answer 6

Abnormalities in the proteins that provide structure and support to various tissues in the body. In the context of bleeding disorders, collagen abnormalities can lead to fragility of the skin, ligaments, blood vessels, and perivascular connective tissue, resulting in easy bleeding and bruising.

Question 7

What are some acquired blood vessel/vascular disorders that can cause abnormal bleeding?

Answer 7

Scurvy, steroid therapy (in cases of Cushing’s syndrome), and old age.

Question 8

What is scurvy?

Answer 8

An acquired vitamin C deficiency that can cause bleeding gums, peri-follicular hemorrhages, bruises, and other symptoms. Risk factors include alcohol abuse and poor diet.

Question 9

What is Cushing’s syndrome?

Answer 9

A disorder caused by long-term exposure to high levels of the hormone cortisol, often due to prolonged use of corticosteroid medications. It can cause a wide range of symptoms, including easy bruising and impaired wound healing.

Question 10

What is old age in the context of blood vessel/vascular disorders and abnormal bleeding?

Answer 10

As people age, blood vessels can become weaker and more fragile, making them more prone to bleeding and bruising.

Question 11

What are some symptoms of hereditary haemorrhagic telangiectasia?

Answer 11

Dilated microvascular swellings in various parts of the body, including the skin (especially the hands and fingertips), mucous membranes, and internal organs. Symptoms can include nosebleeds and GI bleeds.

Question 12

How is hereditary haemorrhagic telangiectasia inherited?

Answer 12

It is inherited in an autosomal dominant manner.

Question 13

What is a bleeding disorder and what can it lead to?

Answer 13

A bleeding disorder is an issue with the blood clotting process, which can lead to abnormally heavy and prolonged bleeding. Bleeding can be spontaneous and may occur due to blood vessel/vascular disorders, platelet disorders, or coagulation pathway disorders.

Question 14

What are the causes of abnormal bleeding?

Answer 14

Abnormal bleeding can be caused by blood vessel/vascular disorders, platelet disorders, and coagulation pathway disorders.

Question 15

What are some inherited blood vessel/vascular disorders?

Answer 15

Some inherited blood vessel/vascular disorders include hereditary haemorrhagic telangiectasia and collagen abnormalities. Hereditary haemorrhagic telangiectasia is an uncommon autosomal dominant disorder characterized by dilated microvascular swellings, which can affect the skin, mucous membranes, and internal organs and lead to nose bleeds, GI bleeds, and other symptoms. Collagen abnormalities can cause fragility of the skin, ligaments, blood vessels, and perivascular connective tissue, leading to easy bleeding and bruising.

Question 16

What are some acquired blood vessel/vascular disorders?

Answer 16

Some acquired blood vessel/vascular disorders include scurvy (vitamin C deficiency), steroid Rx (cf Cushing’s syndrome), and old age.

Question 17

What is thrombocytopenia and what are some symptoms?

Answer 17

Thrombocytopenia is a disorder of platelet numbers characterized by a platelet count of less than 150 x 10^9/L. Symptoms can include epistaxis, GI bleeds, menorrhagia, bruising, petechiae/purpura.

Question 18

What is immune thrombocytopenic purpura (ITP)?

Answer 18

Immune thrombocytopenic purpura (ITP) is a platelet disorder characterized by auto-antibodies against platelets, leading to their removal by the spleen. It can be acute in children and often follows an infection, self-limiting, or chronic in adults with many potential triggers. It affects men and women equally and is treated with steroids, IV immunoglobulins, TPO agonists, monoclonal antibodies, and occasionally splenectomy if bleeding or platelets are less than 30.

Question 19

What are the causes of abnormal bleeding?

Answer 19

Blood vessel/vascular disorders, platelet disorders, coagulation pathway disorders.

Question 20

What are some examples of inherited blood vessel/vascular disorders?

Answer 20

Hereditary haemorrhagic telangiectasia and collagen abnormalities.

Question 21

What are some symptoms of thrombocytopenia?

Answer 21

Epistaxis, GI bleeds, menorrhagia, bruising, petechiae/purpura.

Question 22

What is ITP?

Answer 22

ITP (immune thrombocytopenic purpura) is an autoimmune condition in which auto-antibodies against platelets lead to their removal by the spleen.

Question 23

What are some causes of acquired platelet function disorders?

Answer 23

Drugs such as aspirin, clopidogrel, and NSAIDs, as well as herbal remedies and acquired von Willebrand’s syndrome.

Question 24

What is haemophilia?

Answer 24

Haemophilia is a serious bleeding disorder that affects the body’s ability to control blood clotting, usually due to a deficiency in one of several clotting factors. Haemophilia A is a factor VIII deficiency, while haemophilia B is a factor IX deficiency.

Question 25

What is haemophilia and what are its clinical features?

Answer 25

Haemophilia is an inherited coagulation disorder that affects the body’s ability to control blood clotting, resulting in a serious bleeding disorder. There are several types of haemophilia, but the two most common types are haemophilia A and B, which are caused by a deficiency of factor VIII and factor IX, respectively. Clinical features of haemophilia include spontaneous bleeding into joints and muscles, chronic debilitating joint disease, unexpected post-operative bleeding, and a family history of the disease. Haemophilia is carried on the X chromosome, and males are more likely to be affected than females.

Question 26

What tests are used to diagnose coagulation disorders?

Answer 26

Several tests are used to diagnose coagulation disorders, including APTT (activated partial thromboplastin time), PT (prothrombin time), INR (international normalized ratio), TT (thrombin time), factor level assay, fibrinogen level, and bleeding time. In haemophilia A and B, the APTT is prolonged, while the PT is normal. The factor VIII or IX levels are also low, which helps to diagnose the type of haemophilia and determine its severity.

Question 27

What is the treatment for haemophilia?

Answer 27

The treatment of haemophilia involves replacing the deficient factor with infusions of recombinant factor VIII or factor IX. This can be done either on-demand or prophylactically. Prophylactic treatment involves regular infusions every 2-3 days, aiming for a factor level of 50-100% of normal, and has revolutionized the management of haemophilia patients. On-demand treatment is used only when bleeding occurs or to prevent bleeding, such as during surgery.

Question 28

What is von Willebrand factor?

Answer 28

Von Willebrand factor is a large multimeric glycoprotein that is synthesised by endothelial cells and megakaryocytes. It acts as a bridging molecule between platelet and collagen at sites of vascular injury and promotes platelet aggregation.

Question 29

What is von Willebrand disease?

Answer 29

Von Willebrand disease (vWD) is a deficiency of von Willebrand factor and Factor VIII in plasma. It is the most common inherited clotting abnormality and has several subtypes, both quantitative and qualitative, which are autosomal dominant.

Question 30

What are the symptoms of vWD?

Answer 30

Symptoms of vWD include mucocutaneous bleeds, nosebleeds, and menorrhagia.

Question 31

What are the blood results in vWD?

Answer 31

The blood results in vWD may show normal or prolonged APTT, normal PT, low vWF level, vWF function abnormalities, low factor VIII level, normal (or low) platelet numbers, and prolonged bleeding time.

Question 32

What is the treatment for vWD?

Answer 32

The treatment for vWD may include desmopressin (DDAVP), which increases synthesis/release of vWF, anti-fibrinolytics (e.g. tranexamic acid), which reduce thrombus breakdown, and plasma products, which replace vWF and Factor VIII.

Question 33

What is haemophilia?

Answer 33

Haemophilia is an inherited bleeding disorder that affects the body’s ability to control blood clotting. It is caused by a deficiency or absence of specific clotting factors in the blood, which are necessary for blood to clot properly.

Question 34

What are the different types of haemophilia?

Answer 34

There are several types of haemophilia, but the most common are haemophilia A and haemophilia B. Haemophilia A is caused by a deficiency of clotting factor VIII, while haemophilia B is caused by a deficiency of clotting factor IX.

Question 35

What are the clinical features of haemophilia?

Answer 35

The clinical features of haemophilia include spontaneous bleeding into joints and muscles, unexpected post-operative bleeding, chronic debilitating joint disease, and a family history in most cases.

Question 36

What tests are used to diagnose haemophilia?

Answer 36

Tests used to diagnose haemophilia include the activated partial thromboplastin time (APTT) and the prothrombin time (PT). In haemophilia A and B, the APTT is prolonged, while the PT is normal. Factor assays can be done to determine the levels of factor VIII or IX in the blood.

Question 37

How is haemophilia treated?

Answer 37

Haemophilia is treated with infusions of recombinant factor VIII or IX, which can be given either prophylactically or on demand. Prophylactic treatment involves aiming for a factor level of 50-100% of normal every 2-3 days to prevent bleeding, while on-demand treatment is given only when bleeding occurs or to prevent bleeding during surgery.

Question 38

What does DIC stand for and what is it?

Answer 38

DIC stands for disseminated intravascular coagulation. It is a disorder characterized by abnormal blood clotting and bleeding. It is often secondary to an underlying condition such as sepsis, cancer, or trauma, and results in the depletion of clotting factors and platelets.

Question 39

What are the blood results seen in DIC?

Answer 39

The blood results in DIC typically show prolonged PT and APTT, low fibrinogen, low platelets, raised D-dimer, and raised fibrin degradation products (FDPs). Additionally, red cell fragments may be seen on the blood film.

Question 40

How is DIC treated?

Answer 40

The treatment of DIC involves addressing the underlying cause, such as antibiotics for sepsis. Supportive treatment with blood products may also be necessary to correct coagulation abnormalities if bleeding is present. Vitamin K may also be used in some cases.