haem vol 4 Flashcards
discuss haematology of chronic kidney disease
usually proportional to severity of disease.
anaemia caused by several factors:
EPO- dec production - less stimulation to bone marrow.
Clearance of Hepcidin- decreased iron absorption + reduced utilisation of ferritin
Raised Cytokines - chronic kidney inflam– reduced bone marrow response to EPO
Uraemia - causes inflammation in the blood vessels + toxic to megakaryocytes meaning reduced plts. —-> also reduces erythrocyte lifespan.
dialysis- causes damage to RBC. also slight chance of bleeding.
must give iron IV as hepcidin will stop absorption.
Normocytic, normochromic or microcytic anaemias are seen upon investigation alongside a high ferritin and a high reticulocyte content
haemotology in liver disease
liver disease –> chirrosis –> portal hypertension –> backing up to the spleen –> splenomegaly –> increased sequestration and destruction (dec red AND white count)
Varicies –> can bleed. —-> worsenet by reduced clotting factor production (vit K)
Zieves disease- changed lipids on RBC membrane causing shape change. - reduced lifespan
reduced thrombopoietin - reduced platelet creation.
what is haemochromocytosis
genetic change resulting in inappropriately low secretion of hepcidin (due to low gene expression)
this means that there is ongoing duodenal absorption of iron –> in excess of need –> build up in multiple organs around the body.
variable penetrance- so not all who have the genetic alterations will be symptomatic.
also demonstrate transferrin saturation.
signs and symptoms, risk factors for haemochromocytosis
lethargy, fatigue, loss of libido, and skin bronzing
Arthralgias (pseudogout), hepatomegaly, DM (pancreatic damage), hypogonadism,
risk factors:
male, white, middle aged (4th-5th decade), family history (autosomal recessive disorder)
investigations for haemochromocytosis
1st marker to become affected –> serum transferrin saturation - not mediated by fasting.
serum ferratin
Consider-
MRI liver, LFTs, fasting blood sugar, echo/ ecg.
Rx:
stage 2,3,4- phlebotomy, iron chelation, lifestyle changes.
stage zero- mutation present but no symptoms/ testing negative- monitor 3 yr. stage 1- 1 yr.
gestational Immune thrombocytopenia
most common thrombocytopaenia in 1st trimester. defines as plts below 100. 50 is severe.
Overall it affects 1 to 4% of all pregnancies and affects 1 to 2 per 1000 pregnancies each year
60% of patients have an antibody-mediated disease, but in up to 40% of patients, the driver for ITP may be malfunctioning T-cells or antigen-presenting cells.
can present alongside other autoimmune diseases (SLE etc)
Rx:
don’t Rx until 20-30- then steroids - can give 2 doses only. response seen in 3-7 days usually (can be 24hrs)
despite this, catastrophic bleeding occurs in 1% of patients.
what is classified as a VTE related to pregnancy, what are the risk factors, epidemiology, investigations and treatment for it.
during gestation or the 6 weeks post delivery. Leading cause of maternal death.
1-2in 1000
Risk factors:
over 35
3 or more deliveries previously
familial/ personal history, redisposing disease etc.
Ix:
CXR, V/Q matching or CT (both involve radiation)
Rx: LMWH- based on an early pregnancy weight, does not cross placenta, can be used breastfeeding. min 3 month treatment course
discuss haemolytic disease of the newborn
where a D +ve baby has a D-ve mother (can also occur in ABO mismatch but less severe symptoms)
mother needs to be exposed (can happen after 1st baby delivery, or in pregnancy)
generates IgG antibodies- which can cross the placenta- causes haemolysis + the consequences (jaundice- hyperbilirubinea, anaemia)
85% chance of a white D-ve woman mating with a D+ ve man. higher in other ethnicities.
Ix: blood typing, transcutaneous bilirubin @ 24 hours of life.
Rx:
if identified- anti D treatment 1500IU between 28 and 30 weeks as prophylaxis
for baby- phototherapy- high bili treatment
transfusions if severely anaemic.
Neonatal alloimmune thrombocytopenia- discuss how common it is, etiology, S+S and Rx
most common haemotological issue in newborns
platelet antigens are given by both their mother and father
mother recognises platelets as foreign- generates an IgG mediated placenta crossing response.
Hpa 1a (80% of cases) and anti-hpa-5b (15%)
S+S: incidental finding usually.
bleeding, bruising, petechiae.
Rx:
invasive - platelet transfusion (intrauterine or not) however significant risks (1.3% of foetal death)
non-invasive- Iv immunoglobulin administration - very effective.
can add prednisolone.
haemorrhagic disease of the new-born.- what is it how is it classified what are the risk factors
a term that emcompasses all bleeding issues
most common issue is vitamin K deficiency
- in adults made by gut bacteria, but in babies - sterile gut.
classified as
Early: Occurs within the first 24 hours of birth, can also occur in-utero or during delivery.
Classical: 1 week of neonatal life (2nd through 7th day)
Late: From 8 days to up to 6-12 months
RF:
exclusively breast fed, vaginal delivery, male baby, home delivery, early birth.
Signs and symptoms of haemorrhagic disease of the newborn+ rx
bleeding- melena, after circumcision, into body cavity, into brain etc etc.
Ix:
CBC- will have normal platelets but INR of more than 4.
prothrombin 4x normal (factor 7 def)
Rx:
prompt administration of vit K - IM for late, oral for others.
if life threatening - give transfusion
6 reasons for transfusion
symptomatic anaemia
major haemorrhage
chronic transfusion dependant anaemia
exchange transfusion
radiotherapy
most common cause of aquired anaemia
parvovirus infection.
discuss a plastic anaemia
hypocellular bone mrrow
no abnormal cells
no fibrosis
at least 2 of the folloing
hb< 100
plt < 50
neut <1.5
realistically plts less than 20 is bad, neuts lower than 0.5 is bad.
often caused by a infective precipitating event.
also nuclear disasters can cause it.
coexists with paroxysmal nocturnal haemoglobinuria.
Rx:
supportive treatment, abx (prophylactic if needed)
immunosupression- as immune mediated disease
GCSF
STEM CELL TRANSPLANT
fanconis anaemia
congenital autosomal recessive
presents with pancytopaenia
unstable DNA structure.
increaced predisposition to malignancies
S+S: cafe au lait
absent thumbs
horseshoe kidneys
presents between 5-10 years, BM faliure by age 40 usually.
Rx:
stem cell transplant
