weird and wonderful Flashcards
Thrombocytopenia, bloody diarrhoea, ezcema, immunodeficiency
Wiskott-Aldrich sydrome
what is APML? how do you differentiate it between APML and CML? what is the treatment?
APML stands for acute promyelocytic leukaemia. The average age of presentation is between 30-40 (70 in chronic myeloid leukaemia). On blood film, auer rods can be seen in both APML and CML but bilobar/ multilobar premature myeloid precusor cells or granulocytes are usually seen in APML whereas myeloid cells are seen in CML.
Diagnosis-PCR, FISH of bone marrow which demonstrates translocation of chromosome 15 and 17.
Treatment-
1) emergency treatment: All-trans-retinoic acid (ATRA) to induce cells to mature and then undergo apoptosis
2) induce remission: Arsenic trioxide
Common presentation- thrombocytopenia, DIC (catastrophic hemorrhage)
1) haemolysis
2) thrombosis
paroxysmal nocturnal haemaglobinuria
what is paroxysmal nocturnal haemaglobinuria?
What is the diagnostic test?
it is an acquired disorder leading to intravascular haemolysis caused by increased sensitivity of cell membranes to complement due to a lack of GPI.
Features- intravascular haemolysis (lack of GPI- anchoring protein), venous thrombosis (lack of CD59 on platelet membranes predisposing to platelet aggregation)
Diagnosis
1) flow cytometry of blood to detect low levels of CD 55 + CD 59
2) hams test- acid induced haemolysis
Treatment
1) transfusion
2) anticoagulation
3) definitive- stem cell transplant
what is the most common inherited bleeding disorder?
Von Willebrand’s disease
what is the normal APTT ratio
0.8-1.2
What is von willebrand’s disease?
What are the coagulation abnormalities?
It is an inherited bleeding disorder, common presenting features include menorrhagia, epistaxis. It is mostly autosomal dominant. VWF is a carrier for Factor 8 and promotes platelet adhesion to damaged endothelium.
Prolonged bleeding time + APTT
Ristocetin platelet aggregation test- impaired aggregation
How is von willebrand’s disease managed?
1) transnexamic acid for mild bleeding
2) desmopression to increase release of VWF from endothelium
3) factor 8 concentrate
What is haemophilia A and B uncommon in females?
They are both x-linked and carriers (females) tend to be asymptomatic
What is anti-thrombin III deficiency?
It is a prothrombotic disorder
Difference between von willebrand’s disease and haemophilia
normal bleeding time in haemophilia, prolonged in von willebrand’s disease.
Impaired aggregation in ristocetin test in von willebrand’s disease.
Features of HHT - hereditary hemorrhagic telangiectasia
HHT is an autosomal dominant condition associated with abnormal blood vessel malformation in the skin, mucous membranes, liver, lung, brain.
Features:
1) nosebleed
2) iron deficiency anaemia- pallor, SOB, flow murmur
3) other manifestations- haemoptysis, portal hypertension, oesophageal varices, congestive cardiac failure, headache, intracranial hemorrhage, seizures
Diagnostic criteria for HHT, management
1) epistaxis : spontaneous, recurrent nosebleeds
2) telangiectases: multiple at characteristic sites (lips, oral cavity, fingers, nose)
3) visceral lesions: for example gastrointestinal telangiectasia (with or without bleeding), pulmonary arteriovenous malformations (AVM), hepatic AVM, cerebral AVM, spinal AVM
4) family history: a first-degree relative with HHT
Management:
1) blood transfusion
2) iron replacement
Indications for irradiated blood
Hodgkin lymphoma, previous purine analogue, stem cell transplant, HLA matched products
