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Year 3 Conditions MEGADECK > Haematology > Flashcards

Haematology Flashcards

1
Q

What is Antiphospholipid syndrome?

A

Antiphospholipid syndrome (APS), also known as antiphospholipid antibody syndrome, is the association of antiphospholipid antibodies (lupus anticoagulant, anticardiolipin antibody, and/or anti-beta2-glycoprotein I) with a variety of clinical features characterised by thromboses and pregnancy-related morbidity.

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2
Q

What are the risk factors of antiphospholipid syndrome?

A

> History of autoimmune or rheumatological diseases like SLE

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3
Q

What are the signs and symptoms of antiphospholipid syndrome?

A

> Pregnancy or pregnancy loss> Vascular thrombosis (or past)> Thromboytopenia features (e.g. purpura)> Arthritis or arthralgia> Livedo reticularis> Cardiac murmur> Oedema

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4
Q

What is the epidemiology of antiphospholipid syndrome?

A

The actual incidence of APS is unknown, and the disorder is probably underdiagnosed. APS has been reported to have a prevalence of between 1.0% and 5.6% in normal healthy populations and may increase with age

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5
Q

What investigations would you do for antiphospholipid syndrome?

A

> Lupus anticoagulant> Anticardiolipin antibodies> Anti beta 2 glycoprotein 1 antibodies> ANA> FBC- thrombocytopenia> Creatinine and urea- elevated if nephropathy

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6
Q

What is aplastic anaemia?

A

Aplastic anaemia (AA) is defined by pancytopenia with hypocellular marrow and no abnormal cells. At least 2 of the following peripheral cytopenias must be present: haemoglobin <100 g/L (<10 g/dL), platelets <50 × 10⁹/L, absolute neutrophil count <1.5 × 10⁹/L.

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7
Q

What are the risk factors for aplastic anaemia?

A

> Drug or toxin exposure> Paroxysmal nocturnal haemoglobinuria> Recent hepatits> Pregnancy > Autoimmune disease> Family history

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8
Q

What are the signs and symptoms of aplastic anaemia?

A

> Recurrent infections> Fatigue> Pallor> Bleeding/ easy bruising> Tachycardia> Dyspnoea> Persistent warts

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9
Q

What is the epidemiology of aplastic anaemia?

A

The incidence of acquired AA is about 2 per million population per year in North America and Europe.There is no gender imbalance. Patients can be affected at any age, although there is a biphasic age distribution with peaks from 10 to 25 years and >60 years.

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10
Q

What investigations do you do for aplastic anaemia?

A

> FBC- pancytopenia> Reticulocyte- low> Bone marrow biopsy and cytogenetic analyses- hypocellular marrow with no abnormal cell population

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11
Q

What is a blood transfusion?

A

A blood transfusion is when blood is given from someone else (a donor).

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12
Q

What are the different types of transfusion?

A

> Red cell> Platelet> Fresh frozen plasma (clotting factors, fibrinogen, plasma proteins, electrolytes, physiological anticoagulants)> Cryoprecipitate (Fibrinogen, Factor 8, Factor 13, Von Willebrand Factor, Fibronectin)> Prothrombin complex concentrate (F2, 9, 10)

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13
Q

What are the shelf life’s of each type of transfusion?

A

Red cells (10 yrs frozen, 42 days thawed)Platelets (5 days)FFP (1 yr frozen, up to 5 days thawed)Cryoprecipitate (1 yr frozen, 6 hours thawed)

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14
Q

What are the indications of each type of transfusion?

A

> Red cell- blood loss or poor oxygen delivery> Platelets- Blood cancers which cause cytopenia, CNS trauma or cardiopulmonary bypass> FFP- Isolated factor deficiencies, reversal of warfarin, immunodeficiencies, massive blood transfusions> Cryoprecipitate- vWd, Haemophilia A, F8 deficiency, fibrinogen problems> Prothrombin complex concentrates- urgent reversal of Vit K antagonists if major acute bleed

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15
Q

What complications might you get from a transfusion?

A

> AKI, anaemia, pulmonary oedema, shock> Overtransfusion (e.g. iron overload, high pro-coagulation)

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16
Q

What is DIC?

A

Disseminated intravascular coagulation (DIC) is an acquired syndrome characterised by activation of coagulation pathways, resulting in formation of intravascular thrombi and depletion of platelets and coagulation factors.

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17
Q

What are the risk factors of DIC?

A

> Major trauma or severe infection> Severe obstetric complication> Solid tumours and haem malignancy> Severe toxic or immuno reactions

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18
Q

What are the signs and symptoms of DIC?

A

> Oliguria, hypotension or tachycardia> Purpura fulminans, gangrene or acral cyanosis> Delirium or coma> Petechiae, ecchymosis, oozing or haematuria

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19
Q

What is the epidemiology of DIC?

A

Many conditions can cause DIC; therefore, the overall incidence is difficult to determine. Age and sex are not good predictors. Mortality can be high.

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20
Q

What are the appropriate investigations for DIC?

A

> Platelet count (low)> Prothrombin time (high)> Fibrinogen (low)> D dimer (high)> aPTT (unpredictable)> Imaging (variable)

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21
Q

What is haemolytic anaemia?

A

Haemolytic anaemia encompasses a number of conditions that result in the premature destruction of RBCs. Common causes include autoantibodies, medications, and underlying malignancy, but the condition can also result from a number of hereditary conditions, such as haemoglobinopathies.

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22
Q

What are the risk factors for haemolytic anaemia?

A

> Autoimmune disorders> Lymphoproliferative disorders> Prosthetic heart valve> Family are mediterranean, Middle east, sub saharan africa or SE asia> FHx of haemoglobinopathies> Paroxysmal nocturnal haemoglobinuria> Recent cephalasporins, peniccilins, quinine derivatives and NSAIDs> Exposure to Napthalene or fava beans> Thermal injuries

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23
Q

What are the signs and symptoms of haemolytic anaemia?

A

> Pallor> Jaundice> Fatigue> SOB> Dizziness> Splenomegaly> Infections, dark urine

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24
Q

What is the epidemiology of haemolytic anaemia?

A

The epidemiology of haemolytic anaemia varies with underlying cause. Glucose-6-phosphate dehydrogenase deficiency, for example, is an X-linked defect in enzyme metabolism causing haemolysis after illness or certain drugsWarm antibody haemolytic anaemia is the most common haemolytic anaemia with an autoimmune cause, and it affects more women than men

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25
Q

What investigations would you do for haemolytic anaemia?

A

> FBC- low Hb> MCHC- High> Reticulocyte count- high> Peripheral smear- schistocytes, spherocytes, elliptocytes, tear drop cells etc.> Unconj BR- high> LDH- high> Haptoglobin- low> Urinalysis- + for blood no RBC

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26
Q

What is haemolytic uraemic syndrome (HUS)?

A

Haemolytic uraemic syndrome (HUS) is characterised by microangiopathic haemolytic anaemia, thrombocytopenia, and acute kidney injury.

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27
Q

What are the risk factors for HUS?

A

> ingestion of contaminated food or water> known community outbreak of toxicogenic E coli> exposure to infected individuals in institutional settings> genetic predisposition (atypical HUS)

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28
Q

What are the signs and symptoms of HUS?

A

> Diarrhoea (with blood)> Young age> Shiga toxin e coli contaminated food> Pregnancy> Previous bone marrow transplant> FHx

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29
Q

What is the epidemiology of HUS?

A

Shiga toxin-producing Escherichia coli (STEC) HUS is most common in young children (<5 years), but it can be seen at any age with decreasing frequency in older children and adults.The annual incidence in the US in children <5 years is 2 to 3 per 100,000. In Europe, the prevalence of atypical or recurrent HUS is 3.3 per million children <18 years of age

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30
Q

What investigations do you do for HUS?

A

> FBC- anaemia, thrombocytopenia> peripheral blood smear- schistocytes> creatinine- increased> serum electrolytes- deranged> PT, PTT- normal> LDH- high> haptoglobin- low> stool culture on sorbitol-MacConkey agar to detect Shiga toxin-producing Escherichia coli> polymerase chain reaction (PCR) to detect Shiga toxin 1/Shiga toxin 2> proteins involved in complement regulation- abnormal if atypical HUS

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31
Q

What is haemophilia?

A

Haemophilia is a bleeding disorder, usually inherited with an X-linked recessive inheritance pattern, which results from the deficiency of a coagulation factor.

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32
Q

What is the difference between haemophilia A and B?

A

Haemophilia A results from the deficiency of clotting factor VIII. Haemophilia B results from the deficiency of clotting factor IX.

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33
Q

What are the risk factors of haemophilia?

A

> family history of haemophilia (congenital haemophilia)> male sex (congenital haemophilia)> age >60 years (acquired haemophilia)> autoimmune disorders, inflammatory bowel disease, diabetes, hepatitis, pregnancy, postnatal, or malignancy (acquired haemophilia)

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34
Q

What are the signs and symptoms of haemophilia?

A

> Recurrent or severe bleeding> Bleeding into muscles> Prolonged bleeding following heel prick or circumcision> Mucocutaneous bleeding> Haemarthrosis> Excessive bruising> Menorrhagia> Extensive

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35
Q

What is the epidemiology of haemophilia?

A

The incidence of congenital haemophilia A is about 1 in 5000 boys/men, whereas the incidence of congenital haemophilia B is about 1 in 30,000 boys/men.

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36
Q

What investigations would you do for haemophilia?

A

> aPTT- Prolonged> plasma factor VIII and IX assay- low> mixing study- aPTT corrected> FBC- normal or low Hb> plain x-rays of specific bony sites- haemarthrosis> antenatal factor VIII or IX mutation analysis by amniocentesis or chorionic villus sampling (CVS)- mutationAll normal:> prothrombin time (PT)> plasma von Willebrand factor assay> plasma factor V, VII assay> plasma factor XI, XII assay> closure time/bleeding time and platelet aggregation studies> serum liver aminotransferases- aspartate aminotransferase [AST] and alanine aminotransferase [ALT]

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37
Q

What is ITP?

A

Primary immune thrombocytopenia (ITP) is a haematological disorder characterised by isolated thrombocytopenia (platelet count <100 × 10⁹/L [<100 × 10³/microlitre]) in the absence of an identifiable cause.

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38
Q

What are the risk factors of ITP?

A

> Women of child bearing age> Age <10 or >65

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39
Q

What are the signs and symptoms of ITP?

A

> bleeding> absence of systemic symptoms, medicines that cause thrombocytopenia, splenomegaly/ hepatomegaly, lymphadenopathy

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40
Q

What is the epidemiology of ITP?

A

In Europe, adult ITP has an incidence of 1.6 to 3.9 cases in 100,000 per year, with increasing incidence with older age and a higher female-to-male ratio (3:1) in younger patients.

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41
Q

What investigations would you do for ITP?

A

FBC and peripheral smear- platelet count <100 x 10^9 /L

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42
Q

What is AML?

A

Acute myeloid leukaemia (AML) is the clonal expansion of myeloid blasts in the bone marrow, peripheral blood, or extramedullary tissues. Bone marrow blasts of at least 20% are diagnostic.

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43
Q

What is ALL?

A

Acute lymphocytic leukaemia (ALL) is a malignant clonal disease that develops when a lymphoid progenitor cell becomes genetically altered through somatic changes and undergoes uncontrolled proliferation.

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44
Q

What is CML?

A

Chronic myelogenous leukaemia (CML) is a malignant clonal disorder of the haematopoietic stem cell that results in marked myeloid hyperplasia of the bone marrow.

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45
Q

What is CLL?

A

Chronic lymphocytic leukaemia (CLL) is an indolent lymphoproliferative disorder in which monoclonal B lymphocytes (>5 x 10⁹/L [>5 x 10³/microlitre]) are predominantly found in peripheral blood.

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46
Q

What are the risk factors of AML?

A

> Age over 65> Previous haematological dyspoeisis or chemotherapy> Genes> Radiation or benzene exposure

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47
Q

What are the risk factors of ALL?

A

> Age: <6, mid 30s, mid 80s

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48
Q

What are the risk factors of CML?

A

> 65-74 years

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49
Q

What are the risk factors of CLL?

A

> Age over 60> White males

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50
Q

What are the signs and symptoms of AML?

A

> Pallor > Ecchymoses or petechiae> Fatigue> Dizziness> Palpitations> Dyspnoea> Infections> Lymphadenopathy> Hepatosplenomegaly> Mucosal bleeding

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51
Q

What are the signs and symptoms of ALL?

A

> Lymphadenopathy> Hepatosplenomegaly> Pallor, ecchymoses or petechiae> fever> Epistaxis/ menorrhagia> fatigue, dizziness, palpitations and dyspnoea> Meningism and papilloedema> Focal neurological> renal enlargement> Bony pain

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52
Q

What are the signs and symptoms of CML?

A

> Splenomegaly> Weight loss> Excessive sweating> SOB> Epistaxis/ arthralgia> Fever> Bruising> Pallor

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53
Q

What are the signs and symptoms of CLL?

A

> SOB> Lymphadenopathy> Splenomegaly

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54
Q

What is the epidemiology of the leukaemias?

A

In 2014 there were 3072 new cases of AML in the UK (55% of thses over 70)Acute lymphocytic leukaemia (ALL) is rare. Worldwide, the incidence of ALL is about 3 per 100,000 population, with approximately 75% of cases occurring in children less than 6 years.In the US, it has been estimated that, in 2018, there will be 8430 new cases of CML and 1090 deaths from this cancer.CLL is the most common leukaemia in the Western world. In the UK, there were 3515 new cases of CLL in 2014

55
Q

What investigations would you do for the leukaemias?

A

> FBC- anaemia, macrocytosis, leukocytosis, neutropenia, thrombytopenia (AML/ALL)- platelet abnormalities, elevated WBC (CML/ CLL)> peripheral blood smear> coagulation panel (May indicate DIC)> serum electrolytes (var)> renal function (var)> LFTs (var)> serum lactic dehydrogenase (may be elevated AML)> TPMT> Bone marrow aspiration/ trephine biopsy (hypercellularity and infiltration by lymphoblasts, ALL) (granulocyte hyperplasia (CML)> Blood film- CLL(spherocytes, polychromasia etc.)

56
Q

What is hodgkins lymphoma?

A

Hodgkin’s lymphoma (HL), also referred to as Hodgkin’s disease, is an uncommon haematological malignancy arising from mature B cells.

57
Q

What is non hodgkins lymphoma?

A

Non-Hodgkin’s lymphomas (NHL) are a heterogeneous group of malignancies of the lymphoid system.

58
Q

What are the risk factors of hodgkins lymphoma?

A

> EBV> FHx> young adults from higher socioeconomic class> HLA types> Jewish ancestry

59
Q

What are the risk factors of non hodgkins lymphoma?

A

> Age >50 yrs> Male > Immunocompromised> EBV> HTLV-1> HHV8> H pylori> Coeliac disease> HIV> HCV> Sjorgen’s syndrome> Wiskott Aldrich> Ataxia- telangiectasia

60
Q

What are the signs and symptoms of hodgkin’s lymphoma?

A

> lymphadenopathy> fever> night sweats > weight loss > dyspnoea> cough> chest pain > SVC obstruction> abdominal pain> generalised pruritis> alcohol induced pain> hepatomegaly/ splenomegaly> Tonsillar enlargement

61
Q

What are the signs and symptoms of non-hodgkin’s lymphoma?

A

> Night sweats> Weight loss> Fatigue/ malaise> fever> lymphadenopathy> splenomegaly

62
Q

What is the epidemiology of hodgkins and non hodgkins lymphoma?

A

HL is an uncommon malignancy. In the UK, there were 2086 new cases of HL between 2014 and 2016.In the UK, 13,682 people were diagnosed with NHL in 2015.

63
Q

What investigations would you do for hodgkins lymphoma?

A

> FBC (low Hb/ plt)> Metabolic panel (normal)> ESR (high)> CXR (mediastinal mass/ lymphadenopathy)> PET-CT (bright spots)> gallium scan (nright spots)> Contrast CT neck/ chest/ abdo/ pelvis (enlarged lymph nodes)> Excisional lymph node biopsy (Hodgkins cells)> immunohistochemical studies

64
Q

What investigations would you do for non hodgkins lymphoma?

A

> FBC (pancytopenia)> blood smear (left shift and nucleated RBC)> lymph node biopsy (pos)> skin biopsy (pos) > bone marrow biopsy (pos)> basic metabolic panel> liver function tests (elevated)> LDH (elevated)

65
Q

What is macrocytic anaemia?

A

An anaemia (low Hb) with unusually large cells (high MCV> 100fL)

66
Q

What are the risk factors of macrocytic anaemia?

A

> Vegan diets> Other dietary causes> Gastrectomy> IBD/ AI (pernicious)> Cancer> Alcohol> Liver disease

67
Q

What are the signs and symptoms of macrocytic anaemia?

A

eaknesspalenessexhaustionredness or swelling of the tongue (glossitis)diarrhealow appetitedepressionconfusioninfertility

68
Q

What is the epidemiology of macrocytic anaemia?

A

Macrocytosis affects 2% to 4% of the population, 60% of whom have anemia. Alcohol use accounts for the majority, followed by deficiencies in folate and vitamin B12 and medications.

69
Q

What investigations would you do for macrocytic anaemia?

A

> FBC> Anti-IF antibodies> Anti parietal cell antibodies

70
Q

What is the management of macrocytic anaemia?

A

> B12/ folate supplementation (e.g. injection)> Diet> Alcohol cessation

71
Q

What are the complications of macrocytic anaemia?

A

These complications can include permanent damage to your nervous system. Extreme vitamin B-12 deficiencies may cause long-term neurologic complications. They include peripheral neuropathy and dementia.

72
Q

What is the prognosis of macrocytic anaemia?

A

> Pretty good

73
Q

What is microcytic anaemia?

A

Anaemia with smaller than normal cells

74
Q

What are the risk factors of microcytic anaemia?

A

lead toxicitycopper deficiencyzinc excess, which causes copper deficiencyalcohol usedrug useMenorrhagiaBleedingHereditary thalassaemiaChronic diseases

75
Q

What are the signs and symptoms of microcytic anaemia?

A

fatigue, weakness, and tirednessloss of staminashortness of breathdizzinesspale skin

76
Q

What is the epidemiology of microcytic anaemia?

A

According to epidemiologic data from World Health Organization (WHO), 24.8% of the human population is currently suffering from anemia out of which a major portion is due to iron deficiency anemia.

77
Q

What investigations would you do for microcytic anaemia?

A

> FBC > Peripheral blood smear> Abdo US/ OGD/ CT abdo

78
Q

What is the management of microcytic anaemia?

A

Iron and vitamin C supplementsTreat underlying cause

79
Q

What are the complications of microcytic anaemia?

A

low blood pressure, also called hypotensioncoronary artery problemspulmonary problemsshock

80
Q

What is the prognosis of microcytic anaemia?

A

Treatment can be relatively straightforward if simple nutrient deficiencies are the cause of microcytic anemia. As long as the underlying cause of the anemia can be treated, the anemia itself can be treated and even cured.

81
Q

What are the types of microcytic anaemia?

A

> Iron deficiency anaemia (low iron)
Thalassaemia (lack of beta chain)
Anaemia of Chronic disease (normchromic) (may also be normocytic)

82
Q

Define multiple myeloma

A

Multiple myeloma (MM) is a plasma cell dyscrasia characterised by terminally differentiated plasma cells, infiltration of the bone marrow by plasma cells, and the presence of a monoclonal immunoglobulin (or immunoglobulin fragment) in the serum and/or urine.

83
Q

Explain the aetiology / risk factors of multiple myeloma

A

> Monoclonal gammopathy of undetermined significance> Abnormal free light chain ratio> FHx> Radiation exposure> Petroleum products exposure

84
Q

Summarise the epidemiology of multiple myeloma

A

In Europe, the incidence of multiple myeloma (MM) is 4.5 to 6.0 per 100,000 per year, with a mortality of 4.1 per 100,000 per year.

85
Q

Recognise signs and symptoms of multiple myeloma

A

> Anaemia> Bone pain> Infections> Fatigue> Renal impairment

86
Q

Identify appropriate investigations for multiple myeloma and interpret the results

A

> serum/urine electrophoresis (paraprotein spike )> skeletal survey (osteopenia, osteolytic lesions, pathological fractures)> whole-body, low-dose computed tomography (WBLD-CT)- Osteolytic lesions, fractures> serum free light-chain assay- high> bone marrow aspirate and biopsy- monoclonal plasma cell infiltration> serum calcium- hypercalcaemia> FBC- anaemia> creatinine, urea- renal impairment> serum beta2-microglobulin <3.5 mg > serum albumin >35g/L

87
Q

What is myelodysplasia?

A

Myelodysplastic syndromes (MDS) are a group of cancers in which immature blood cells in the bone marrow do not mature and therefore do not become healthy blood cells.

88
Q

What are the risk factors of myelodysplasia?

A

Older age. Most people with myelodysplastic syndromes are older than 60.Treatment with chemotherapy or radiation. Exposure to certain chemicals. Exposure to heavy metals.

89
Q

What are the signs and symptoms of myelodysplasia?

A

Fatigue.Weakness.Easy bruising or bleeding.Fever.Bone pain.Shortness of breath.Frequent infections

90
Q

What investigations do you do for myelodysplasia?

A

Bloods (FBC)- pancytopeniaBone marrow biopsy/ aspirate- Abnormal looking cellsFlow cytometryCytogenetic/ histochemistry/ molecular studies

91
Q

What is the epidemiology of myelodysplasia?

A

Myelodysplastic syndromes (MDS) comprise a heterogeneous group of clonal hematopoietic stem cell malignancies with significant morbidity and high mortality. The incidence of MDS increases markedly with age, and the disease is most prevalent in individuals who are white and male.

92
Q

What is myelofibrosis?

A

Myelofibrosis is a reactive and reversible process common to many malignant and benign bone marrow disorders.

93
Q

What are the risk factors of myelofibrosis?

A

> Radiation exposure> Industrial solvents exposure> age >65 years

94
Q

What are the signs and symptoms of myelofibrosis?

A

> Constitutional symptoms (FLAWS, cachexia)> hepatosplenomegaly> Portal htn> Pulmonary HTN> Joint/ bone pain> hearing loss> bleeding> infections

95
Q

What investigations do you do for myelofibrosis?

A

> FBC- anaemia (ab)normal cell counts> Smear- teardrop shaped RBCs presence of metamyelocytes, myelocytes, promyelocytes, myeloblasts and nucleated RBCs> Unable to aspirate marrow> Bone marrow biopsy- marrow fibrosis

96
Q

What is the epidemiology of myelofibrosis?

A

In Europe, annual incidence of PMF ranges from 0.1 to 1 per 100,000 people.

97
Q

What is normocytic anaemia?

A

Low Hb, normal MCV

98
Q

What causes normocytic anaemia?

A

> Congenital- sickle cell> Acquired- ACD e.g. kidney disease, cancer, rheumatoid arthritis and thyroiditis> Blood loss

99
Q

What are the signs and symptoms of normocytic anaemia?

A

> Fatigue> Pale> dizzy

100
Q

What is the epidemiology of normocytic anaemia?

A

Its prevalence increases with age, reaching 44 percent in men older than 85 years. Normocytic anemia is the most frequently encountered type of anemia. Anemia of chronic disease, the most common normocytic anemia, is found in 6 percent of adult patients hospitalized by family physicians

101
Q

What investigations do you do for normocytic anaemia?

A

> FBC - low Hb and normal MCV> Smear shows normal cells > Tests for other things

102
Q

How do you manage normocytic anaemia?

A

> Erythropoietin injection

103
Q

What are the complications of normocytic anaemia?

A

Severe fatiguePregnancy complications e.g. premature birthHeart problemsDeath

104
Q

What is the prognosis of normocytic anaemia?

A

here is reduced survival for people with all types of anaemia and it has been shown that there is a low yield from investigations for older people with normocytic anaemia. However, the longer-term outcomes of people with mild normocytic anaemia are not known.

105
Q

What is Polycythaemia?

A

There are 2 main types: primary polycythaemia – there’s a problem in the cells produced by the bone marrow that become red blood cells; the most common type is known as polycythaemia vera (PV) secondary polycythaemia – too many red blood cells are produced as the result of an underlying condition (e.g. lung disease, hypoventilation, diuretics, COPD or performing enhancing drugs)

106
Q

What are the Risk Factors of polycythaemia vera?

A

Vera = philadelphia chromosome mutationAge > 40Budd Chiari Syndrome

107
Q

What are the signs and symptoms of polycythaemia v?

A

> Features of Thrombosis> features of haemorrhage> asymptomatic> headache> generalised weakness/fatigue> pruritus> erythromelalgia> redness of fingers, palms, toes, heels> facial redness> splenomegaly

108
Q

What is the epidemiology of polycythaemia v?

A

Two estimates suggest a prevalence of 30 to 35 cases per 100,000.

109
Q

What investigations should you do for polycythaemia v?

A

FBC ( high Hb and hct, high EBC and plt, low MCV)LFTs (normal)JAK2 gene mutation screen (pos)

110
Q

What is SCD?

A

Sickle cell anaemia (sickle cell disease) is caused by an autosomal-recessive single gene defect in the beta chain of haemoglobin (HbA), which results in production of sickle cell haemoglobin (HbS).

111
Q

What are the Risk Factors of SCD?

A

Genetics (autosomal recessive)

112
Q

What are the signs and symptoms of SCD?

A

> FHx> Persistent skeletal pain> dactylitis> high temp> pneumonia like syndrome> Visual floaters> Tachypnoea> Failure to thrive> Jaundice> Tachycardia> Lethargy

113
Q

What is the epidemiology of SCD?

A

In England, sickle cell disease affects more than 1 in 2000 live births.

114
Q

What investigations should you do for SCD?

A

> DNA-based assays (HbS presence)> haemoglobin isoelectric focusing (Hb IEF) (HbF/S presence)> cellulose acetate electrophoresis (HbS presence)> high-performance liquid chromatography (HPLC) (HbF/S)> haemoglobin solubility testing (HbS)> peripheral blood smear (nucleated RBC, sickle, Howell Jolly Bodies)> FBC and reticulocyte count (anaemia)> Iron studies (serum iron, transferrin, ferritin levels, and serum iron binding capacity)

115
Q

What is the management of sickle cell disease?

A

> Analgesia> Antihistamine (dipenhydramine)> Supportive care/ correction of cause> Hydration> Antibiotics> Blood transfusion> Oxygen

116
Q

What are the complications of sickle cell disease?

A

> Anaemia> Liver complications and cholelithiasis> Avascular necrosis of hip or shoulder> Dactylitis> Leg ulcers> Cardiovascular > Priapism

117
Q

What is the prognosis of sickle cell disease?

A

Chronic organ damage secondary to sickle cell disease results in many medical complications, although some prophylactic treatments can reduce the incidence of these. Without bone marrow transplantation (the only potentially curative treatment), median age at death is 42 years for men and 48 years for women in patients with sickle cell anaemia (SS), and 60 years for men and 68 years for women with haemoglobin SC disease.

118
Q

<p>What is beta Thalassaemia?</p>

A

<p>Beta-thalassaemia is an inherited microcytic anaemia caused by mutation(s) of the beta-globin gene leading to decreased or absent synthesis of beta-globin, resulting in ineffective erythropoiesis.</p>

119
Q

<p>What are the Risk Factors of b Thalassaemia?</p>

A

<p>FHx</p>

120
Q

<p>What are the signs and symptoms of b Thalassaemia?</p>

A

<p>> lethargy> abdominal distension> failure to gain weight> low height and weight> pallor> spinal changes> large head> chipmunk facies> misaligned teeth> hepatosplenomegaly> jaundice</p>

121
Q

<p>What is the epidemiology of b Thalassaemia?</p>

A

<p>Mutations in the beta-globin gene cluster occur at high frequencies (>1%) in regions including the Mediterranean, Middle East, northern Africa, India, and almost all of Southeast Asia.</p>

122
Q

<p>What investigations should you do for b Thalassaemia?</p>

A

<p>FBC (Microcytic anaemia, elevate WBC/ Plt)Reticulocyte count (high)Smear (microcytic, tear drops, microspherocytes, target, fragments, nucleated red cells)Hb analysis (High HbF/ HbA2)LFTs (Elevated UncBR and LDH)Skull XR (Widening and deformity)USS Ab (hepatosplenomegaly)Long bones XR (osteopenia)</p>

123
Q

<p>What are the types of thalassaemia?</p>

A

<p>Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).</p>

<p>Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.</p>

<p></p>

<p></p>

124
Q

What is TTP?

A

Thrombotic thrombocytopenic purpura (TTP) is a clinical syndrome characterised by microangiopathic haemolytic anaemia and thrombocytopenic purpura

125
Q

What are the Risk Factors of TTP?

A

> Black> Female> Obesity> Pregnancy> Cancer therapies

126
Q

What are the signs and symptoms of TTP?

A

> Severe neuro problems> fever> digestive problems> weakness> blood symptoms (purpura, ecchymosis, menorrhagia)

127
Q

What is the epidemiology of TTP?

A

2.2 cases per million per year in the UK

128
Q

What investigations should you do for TTP?

A

> FBC (low plt/ Hb)> haptoglobin (low)> peripheral smear (schistocytes)> reticulocyte count (high)> urinalysis (protein)> urea and creatinine (high)> direct Coombs’ test (neg)

129
Q

<p>What is VWD?</p>

A

<p>Von Willebrand disease (VWD), the most common inherited bleeding disorder, is due to either a quantitative or qualitative abnormality of von Willebrand factor (VWF)</p>

130
Q

<p>What are the Risk Factors of VWD?</p>

A

<p>> FHx> Consanguinous Relationships</p>

131
Q

<p>What are the signs and symptoms of VWD?</p>

A

<p>> High bleeding (minor wound, post operative, menorrhagia)> FHx of bleeding> Epistaxis> Blood transfusions> Haemarthrosis> Haematuria> CNS bleeds</p>

132
Q

<p>What is the epidemiology of VWD?</p>

A

<p>VWD is the most common inherited bleeding disorder, affecting 66 to 100 people per million of the general population, if patient referral for clinical manifestations is used as the basis for diagnosis</p>

133
Q

<p>What investigations should you do for VWD?</p>

A

<p>> PT (normal)> aPTT (prolonged)> FBC (normal except 2B low plt)> VWF antigen (low)> VWF function assay (low)> Factor 8 activity (low)</p>

Year 3 Conditions MEGADECK (15 decks)

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