1. Anaemia Flashcards
What is anaemia ?
Low haemaglobin concentration
Adult Male 130 - 180 g/l
Adult Female 115 - 165 g/l
What does Haemaglobin (Hb) tell you? ranges?
Adult Male 130 - 180 g/l
Adult Female 115 - 165 g/l
Amount of haemoglobin in whole blood
low - Anaemia
high - Polycythaemia
History taking anaemia
Anaemia symptoms and complications: fatigue, tiredness, exercise intolerance, SOB, palpitations, oedema, pins and needles, weakness
Microcytic: blood loss - menorrhagia, harmaturia, change in bowel habit, surgery
Normocytic: bone pain, night sweats, weight loss, easy bruising, jaundice, itching
Macrocytic: cold intolerance, abdo distension
MHx chronic diseases, kidney problems, hypertension, liver problems, t1dm
DHx: methotrexate, alcohol, IDA risk drugs (use of aspirin, nonsteroidal anti-inflammatory drugs, selective serotonin reuptake inhibitors, clopidogrel, corticosteroids, and long-term proton pump inhibitors)
FHx blood disorders, anyone require blood transfusion? Liver disease?
SHx : diet, recent travel
symptoms of anaemia?
Tiredness
Shortness of breath
Headaches
Dizziness
Palpitations
Worsening of other conditions, such as angina, heart failure or peripheral arterial disease
IDA
Pica (dietary cravings for abnormal things, such as dirt or soil)
Examination anaemia?
General inspection
- Hair loss
- Dry and rough skin, dry and damaged hair.
- Angular cheilosis (ulceration of the corners of the mouth).
- Atrophic glossitis.
- Nail changes, such as longitudinal ridging and koilonychia (spoon-shaped nails).
Abdominal examination
- peripheral signs of anaemia (pallor, dry skin, brittle hair, koilynycia, longitudinal ridging)
- ?bleed
- hepatosplenomegaly (extramedullary production)
Cardiac examination
- heart failure
- murmurs
- tachycardia
Neuro
- sensation and motor
Skin/mouth changes iron deficiency anameia
Dry and rough skin
Angular cheilosis (ulceration of the corners of the mouth).
Atrophic glossitis.
Nail changes iron defieceny anaemia
longitudinal ridging
koilonychia (spoon-shaped nails).
Blood tests for anaemia ?
Effects:
- FBC (Hb and MCV)
- Reticulocyte count
Microcytic
- iron studies (total iron, ferritin, TIBC)
- peripheral blood film
- Hb electrophoresis
- Blood film
- renal profile
- LFTs and bilirubin
- coeliac disease serology (anti-ttg)
Normocytic
- direct coombs test
- serum protein electrophoresis
Macrocytic
- B12, folate
- intrinsic factor antibodies
- thyroid function tests
what does reticulocyte tell you?
number of reticulocytes (immature RBCs) normal is 0.2-2%
Raised reticulocyte in presence of anaemia = bone marrow working to correct the anaemia. This would therefore suggest red blood cells are being destroyed in the peripheral circulation (e.g. haemolysis, bleeding) rather than there being an issue with the production of red blood cells in the bone marrow itself.
Low reticulocyte count in the context of anaemia implies a problem with the bone marrow not being able to make enough cells. This could be due to nutritional deficiencies (e.g. B12/folate or iron) or a primary bone marrow disorder (e.g. aplastic anaemia, bone marrow infiltration from solid organ malignancies).
A raised reticulocyte count in the absence of anaemia may indicate that the body is effectively compensating for blood loss or haemolysis (i.e. the increased production is managing to replenish the number of cells being lost in the peripheral circulation). Alternatively, a raised reticulocyte count in the absence of anaemia may be due to the body adapting to increased oxygen demands.
what does red cell distribution tell you?
looks at range of sizes of RBC
Useful where there is a false normocytic MCV due to mix of micro and macro eg in iron, B12 and folate deficiency in coeliac disease
Causes of microcytic anaemia
T – Thalassaemia
A – Anaemia of chronic disease
I – Iron deficiency anaemia
L – Lead poisoning
S – Sideroblastic anaemia
Causes of normocytic anaemia
There are 3 As and 2 Hs for normocytic anaemia:
A – Acute blood loss
A – Anaemia of chronic disease
A – Aplastic anaemia
H – Haemolytic anaemia
H – Hypothyroidism
Causes of macrocytic anaemia
Megaloblastic anaemia is caused by:
B12 deficiency
Folate deficiency
Normoblastic macrocytic anaemia is caused by:
Alcohol
Reticulocytosis (usually from haemolytic anaemia or blood loss)
Hypothyroidism
Liver disease
Drugs, such as azathioprine
Approach to microcytic anaemia
- Iron study
- Fe, ferritin low. TIBC high = iron deficiency anaemia
- Fe and TIBC are low but ferritin is high = anaemia of chronic disease
- Fe high, ferritin high, TIBC low
- Iron study normal = ?thalassemia - Blood smear
basophilic stippling and ringed sideroblasts = sideroblastic anaemia - Hb electrophoresis
Increased HbA2 = beta thalassemia
HbH=Hb H disease (alpha thalassemia)
if youre measuring ferritin, what other test should you do?
CRP
it is an acute inflamamtory phase substance so will increase in inflammation (false normal result)
Causes of iron defieicny anaemia
Poor iron intake
Phytate (found in wholegrain cereals, nuts, seeds and legumes), polyphenols (found in tea and coffee) and calcium (in dairy products) impair iron absorption.
Failure of absorption: surgery, coeliac
Drugs (use of aspirin, nonsteroidal anti-inflammatory drugs, selective serotonin reuptake inhibitors, clopidogrel, corticosteroids, and long-term proton pump inhibitors) Tetracyclines and quinolones chelate with iron so that neither the antibiotic nor the iron is absorbed.
Bleeding
Excessive requirement of iron: growth in children, pregnancy,
when should you refer patients with IDA
IDA 60+ = 2ww colorectal
IDA <60 = offer FIT test first
IDA <50 with rectal bleeding = 2ww colorectal
IDA women 55+ with haematuria = direct access USS endometrial
IDA 55+ with upper abdo pain = non-urgent direct access endoscopy - upper GI ca
All men and postmenopausal women with iron deficiency anaemia unless they have overt non-gastrointestinal bleeding = refer to gastro
any symptoms of specific cancers - refer to referral criteria
Management of iron defieicny anaemia
- see if any referral needed quickly eg 2ww
- FIT testing
- Address any underlying causes that can be managed in primary care (for example treat menorrhagia or stop nonsteroidal anti-inflammatory drugs, if possible).
+ 65 mg elemental iron (ferrous sulfate 200 mg) once daily (on an empty stomach)
+ advise the person to maintain an adequate balanced intake of iron-rich foods (for example dark green vegetables, iron-fortified bread, meat, apricots, prunes, and raisins) and consider referral to a dietitian
What are the main causes of bleeding leading to IDA
Malignancy: colon, oesophageal/stomach, endometrial
Menorrhagia: endometrial ca^, fibroids, dysfunctional uterine bleeding, hypothyroid, (see other topics)
Major trauma/surgery
main adverse effects iron supplements? what to do in that cirucmstance?
gastrointestinal disturbance
For people with significant intolerance to oral iron replacement therapy options include alternate day dosing, oral ferric maltol, or parenteral iron preparations.
Presentation of colorectal cancer
PC: change in bowel habit, rectal bleeding/melena, abdominal pain/cramping/discomfort, unexplained weight loss, anaemia, bowel obstruction
2ww criteria colorectal cancer
Refer adults using a suspected cancer pathway referral (for an appointment within 2 weeks) for colorectal cancer if:
they are aged 40 and over with unexplained weight loss and abdominal pain or
they are aged 50 and over with unexplained rectal bleeding or
they are aged 60 and over with:
iron‑deficiency anaemia or
changes in their bowel habit, or
tests show occult blood in their faeces.
Consider a suspected cancer pathway referral (for an appointment within 2 weeks) for colorectal cancer in adults with a rectal or abdominal mass.
Consider a suspected cancer pathway referral (for an appointment within 2 weeks) for colorectal cancer in adults aged under 50 with rectal bleeding and any of the following unexplained symptoms or findings:
abdominal pain
change in bowel habit
weight loss
iron‑deficiency anaemia.
when are FIT tests used
FIT tests can be used as a test in general practice to help assess for bowel cancer in specific patients who do not meet the criteria for a two week wait referral, for example:
Over 50 with unexplained weight loss and no other symptoms
Under 60 with a change in bowel habit
FIT test screening program
screening every 2 years to all men and women aged 60 to 74 years. Patients aged over 74 years may request screening.
what do patients with newly diagnosed colorectal cancer need for staging
carcinoembryonic antigen (CEA)
CT of the chest, abdomen and pelvis
gold standard investigation colorectal cancer
Colonoscopy
what classification is used to assess severity of colorectal cancer
TNM classification
T for Tumour:
TX – unable to assess size
T1 – submucosa involvement
T2 – involvement of muscularis propria (muscle layer)
T3 – involvement of the subserosa and serosa (outer layer), but not through the serosa
T4 – spread through the serosa (4a) reaching other tissues or organs (4b)
N for Nodes:
NX – unable to assess nodes
N0 – no nodal spread
N1 – spread to 1-3 nodes
N2 – spread to more than 3 nodes
M for Metastasis:
M0 – no metastasis
M1 – metastasis
Management colorectal cancer
surgical resection
Right hemicolectomy involves removal of the caecum, ascending and proximal transverse colon.
Left hemicolectomy involves removal of the distal transverse and descending colon.
High anterior resection involves removing the sigmoid colon (may be called a sigmoid colectomy).
Low anterior resection involves removing the sigmoid colon and upper rectum but sparing the lower rectum and anus.
Abdomino-perineal resection (APR) involves removing the rectum and anus (plus or minus the sigmoid colon) and suturing over the anus. It leaves the patient with a permanent colostomy.
Hartmann’s procedure is usually an emergency procedure that involves the removal of the rectosigmoid colon and creation of an colostomy. The rectal stump is sutured closed. The colostomy may be permanent or reversed at a later date. Common indications are acute obstruction by a tumour, or significant diverticular disease.
chemo and radiation for rectal
Bevacizumab (anti-VEGF) for mets
What is hartmanns procedure
Hartmann’s procedure is usually an emergency procedure that involves the removal of the rectosigmoid colon and creation of an colostomy. The rectal stump is sutured closed. The colostomy may be permanent or reversed at a later date. Common indications are acute obstruction by a tumour, or significant diverticular disease.
what is low anterior resection syndrome
Low anterior resection syndrome may occur after resection of a portion of bowel from the rectum, with anastomosis between the colon and rectum. It can result in a number of symptoms, including:
Urgency and frequency of bowel movements
Faecal incontinence
Difficulty controlling flatulence
follow up colorectal cancer after curative surgery
3 years
Serum carcinoembryonic antigen (CEA)
CT thorax, abdomen and pelvis
What % of colorectal cancer is related to genes
5%
hereditary non-polyposis colorectal carcinoma (HNPCC, 5%)
familial adenomatous polyposis (FAP, <1%)
Screening bowel cancer in lynch’s syndrome
colonoscopy every two years from the age of 25 until the number of polyps make prophylactic colectomy advisable. Upper gastrointestinal (GI) endoscopy every two years from the age of 50.
Presentation endometrial cancer
post-menopausal bleeding is the classic symptom
pre-menopausal women may have a change intermenstrual bleeding
haematuria
pain and discharge are unusual features
Risk factors endometrial cancer
obesity
nulliparity
early menarche
late menopause
unopposed oestrogen. The addition of a progestogen to oestrogen reduces this risk (e.g. In HRT). The BNF states that the additional risk is eliminated if a progestogen is given continuously
diabetes mellitus
tamoxifen
polycystic ovarian syndrome
Invetsigations endometrial cancer
first-line investigation is trans-vaginal ultrasound - a normal endometrial thickness (< 4 mm) has a high negative predictive value
hysteroscopy with endometrial biopsy
Management endometrial cancer
localised disease is treated with total abdominal hysterectomy with bilateral salpingo-oophorectomy. Patients with high-risk disease may have post-operative radiotherapy
progestogen therapy is sometimes used in frail elderly women not consider suitable for surgery
Referral criteria upper GI malignancy
- Immediate endoscopy if evidence eg GI bleed (melena, coffee ground vomit)
2ww urgent direct access upper GI endoscopy if:
- dysphagia
- aged 55 and over with weight loss and any of the following:
- upper abdominal pain
- reflux
- dyspepsia.
Consider non‑urgent direct access upper GI endoscopy if:
- haematemesis
Consider non‑urgent direct access upper gastrointestinal endoscopy to assess for stomach cancer in people aged 55 or over with:
- treatment‑resistant dyspepsia
- upper abdominal pain with low haemoglobin levels
- raised platelet count with any of the following:
nausea
vomiting
weight loss
reflux
dyspepsia
upper abdominal pain
- nausea or vomiting with any of the following:
weight loss
reflux
dyspepsia
upper abdominal pain.
Most common type of oesophageal cancer UK
adenocarcinoma which is present in lower ⅓ of oesophagus,
in other parts of the world, squamous cell carcinoma is most common, present in upper ⅔ of oesophagus.
Presentation oesophageal cancer
PC: dysphagia: the most common presenting symptom, anorexia and weight loss, vomiting, odynophagia, hoarseness, melaena, cough
MHx: GORD, barretts oesophagus, obesity (if adenocarcinoma)
DHx
FHx
SHx: smoking, alcohol
Plan oesophageal cancer
Investigation:
Upper GI endoscopy with biopsy for diagnosis
CT and endoscopy USS used for staging
Management:
surgical management if operbale - Ivor-Lewis type oesophagectomy
adjuvant chemotherapy
Priamry risk factor for gastric cancer
Helicobacter pylori infection is the primary risk factor for gastric cancer, accounting for approximately 75% of cases
Persistent infection with H. pylori can induce chronic inflammation, leading to atrophic gastritis, intestinal metaplasia, dysplasia, and eventually, gastric adenocarcinoma.
Risk factors gastric cancer
PRIAMRY - h.pylori
Additional:
Dietary factors: High salt intake, consumption of smoked or preserved foods, and low intake of fruits and vegetables
Smoking
Alcohol consumption
Pernicious anaemia and atrophic gastritis
Family history of gastric cancer
Genetic syndromes (e.g., hereditary diffuse gastric cancer, Lynch syndrome)
Presentation gastric cancer
PC:
Symptoms of gastric cancer are often nonspecific, especially in the early stages. Common clinical features include:
Dyspepsia or indigestion
Epigastric pain
Early satiety or postprandial fullness
Weight loss
Anaemia
Nausea and vomiting
Gastrointestinal bleeding (e.g., melena, haematemesis)
Advanced disease may present with additional signs, such as palpable abdominal mass, ascites, and supraclavicular lymphadenopathy (Virchow’s node).
Examination findings gastric cancer
Advanced disease may present with additional signs, such as palpable abdominal mass, ascites, and supraclavicular lymphadenopathy (Virchow’s node).
Platelet count cancer
High
Cancer is believed to induce platelet formation through the release of interleukin 6, a proinflammatory cytokine that stimulates the production of thrombopoietin hormone.
Investigations gastric cancer
diagnosis: endoscopy with biopsy
staging: CT or endoscopic ultrasound - endoscopic ultrasound has recently been shown to be superior to CT
CT scanning of the chest abdomen and pelvis is the routine first line staging investigation in most centres.
Laparoscopy to identify occult peritoneal disease
PET CT (particularly for junctional tumours)
Management gastric cancer
Chemo
Radiation
Surgery
Pathophysiology anaemia of chronic disease
Occurs in patients with chronic infections and inflammatory disease
TB, chrons, RA, SLE, malignancy
Inflammation → release of cytokines → release of hepicidin → anaemia
Hepcidin:
Inhibits intestinal iron absorption
Inhibits iron release from iron stores
Inhibits EPO sensitivity
Reduces erythrocyte lifespan
MCV anaemia of chronic disease
FBC - normocytic anaemia then microcytic as iron is depleted
Iron studies iron deficiency anaemia
Fe low
Ferritin low
TIBC high
Transferrin saturations low
Iron studies anameia of chronic disease
Fe low
Ferritin high (stored iron cant be utilised)
TIBC low (stored iron cant be utilised)
Transferrin saturations low
management anaemia of chronic disease
Don’t respond to iron therapy
Treat underlying disorder
Causes of sideroblastic anaemia
Inherited
gene defect
Acquired
alcohol excess
lead poisoning
Copper deficiency
B6 deficiency
Drugs
Myelodysplasia / AML
features of lead poisoning
Abdominal pain, peripheral neuropathy motor, blue lines on gum margin
Pathophysiology sideroblastic anaemia
Immature RBC - constellation of iron as there is a defect in protoporphyrin synthesis → cant form heme → Iron trapped within cell (in mitochondria)
Iron built up → organ damage eg damage to kidneys, liver, spleen, heart etc
Iron studies sideroblastic anaemia
Fe high
Ferritin high
TIBC low
Transferrin saturations high
Investigations sideroblastic anaemia
Low RBC, low haemoglobin, low hematocrit
Serum iron high
Ferritin high
TIBC low
Transferrin saturations high
Peripheral blood smear = basophilic stippling
Bone marrow biopsy = ringed sideroblasts
Examination finding siderobalastic anaemia
Hepatosplenomegaly is found in a third to a half of people with sideroblastic anaemia and is not present in iron deficiency anaemia.
Management of siderobalstic anaemia
Stop offending agent
Pyridoxine (B6) supplement - cofactor in gene pathway
Inheritance thalassemia
autosomal recessive
Pathophysiology thalassemia
genetic defect in the protein chains that make up haemoglobin. Normal haemoglobin consists of 2 alpha and 2 beta-globin chains.
Defects in alpha-globin chains leads to alpha thalassaemia. Defects in the beta-globin chains leads to beta thalassaemia.
In thalassaemia, the red blood cells are more fragile and break down more easily. The spleen acts as a sieve to filter the blood and remove older blood cells. In thalassaemia the spleen collects all the destroyed red blood cells and swells, resulting in splenomegaly.
The bone marrow expands to produce extra red blood cells to compensate for the chronic anaemia. This causes a susceptibility to fractures and prominent features such as a pronounced forehead and malar eminences (cheekbones).
Signs and symptoms thalassemia and pathophysiology of symptoms
Microcytic anaemia (low mean corpuscular volume) (less stuff in the RBC)
Fatigue (anaemia)
Pallor (anaemia)
Jaundice (quicker breakdown)
Gallstones (higher bilirubin due to RBC breakdown –> ppt gallstones)
Splenomegaly (swelling due to increased use - removing old RBC)
Hepatomegaly related to significant extramedullary hematopoiesis
Poor growth and development (anaemia?)
Pronounced forehead and malar eminences (extramedullary production of RBC)
Invetsigations thalassemia
Full blood count shows a microcytic anaemia.
Haemoglobin electrophoresis is used to diagnose globin abnormalities.
DNA testing can be used to look for the genetic abnormality
Pregnant women in the UK are offered a screening test for thalassemia at booking.
Why does iron overload occur in thalassemia? symptoms?
Iron overload occurs in thalassaemia as a result of faulty creation of red blood cells, recurrent transfusions and increased absorption of iron in response to the anaemia.
Iron overload in thalassaemia causes effects similar to haemochromatosis:
Fatigue
Liver cirrhosis
Infertility and impotence
Heart failure
Arthritis
Diabetes
Osteoporosis and joint pain
why do you need to check ferritin thalassemia patients
Patients with thalassaemia have serum ferritin levels monitored to check for iron overload. Management involves limiting transfusions and iron chelation.
what chromosome is genes alpha thalassemia
chromosome 16
Alpha thalassemia genes explanation and results
Gene HBA1 and HBA2
So 4 alleles in each parent
Pass on 2 each to child
either present or deleted
In child:
number of missing alleles
1 missing - silent carrier
2 misisng - alpha thalssemia trait
3 missing - HbH disease
4 missing - Hb Bart’s - hydrops fetalis
what is alpha thalssemia trait
2 alleles missing - minor anaemia
What is HbH disease? how is patient affected?
3 missing alleles - alpha thalssemia
mild to moderate haemolytic anaemia, which may or may not require medical intervention. Cases can be severe – usually during an acute illness or increased metabolic exacerbation, such as during pregnancy.
What is Hb Barts disease?
4 missing alleles alpha thalassemia
incompatible with life
usually die in utero
hydrops fetalis
ethnicity risk alpha thalssemia
Southeast Asia, the Middle East, China, and in those of African descent.
What chromosome beta thalassemia
chromosome 11
Beta thalassmeia gene and explanation inheritance
HBB gene chromosome 11
Both parents have 2 alleles
Pass on 1 each
Gene either fucntional, partially functional (+), or no fucntion (0)
B0/B0 - beta thalassemia major - severe symptomatic anaemia age 2
B+/B+ or B+/B0 - beta thalassemia intermedia - symptomatic later in life moderate
B/B+ or B/B0 - beta thalassemia minor/trait - asymptomatic/mild
Presentation beta thalassemia major
present within the first two years of life with symptomatic severe anemia, poor growth, and skeletal abnormalities. Untreated thalassemia major eventually leads to death, usually by heart failure; therefore, prenatal screening is very important.
transfusiond ependent
Presentation beta thalssemia intermedia
Those with beta thalassemia intermedia (those who are compound heterozygotes for the beta thalassemia mutation) usually present later in life with mild to moderate symptoms of anemia
PResentation beta thalssemia minor/trait
Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation and patients usually have borderline microcytic, hypochromic anemia and they are usually asymptomatic or have mild symptoms.
ethnicity beta thalssemia
Beta thalassemia most often occurs in people of Mediterranean origin. To a lesser extent, Chinese, other Asians, and African Americans can be affected.
Management thalassemia
Depending on the type/severity, there are different treatment requirements and options including:
Monitoring the full blood count
Monitoring for complications
Blood transfusions
Iron chelation- desferrioxamine
Splenectomy may be performed
Bone marrow transplant can be curative
which thalassemia is usually transfusiond ependent
beta major
microscopy megaloblastic anaemia
hypersegmented neutrophils - (more than 5 lobes)
Approach to macrocytic anaemia
- Check folate and B12 levels
- If normal : non megaloblastic causes (liver disease, alcohol, hypothyroid, reticulocytosis)
pathophysiology megalobastic anaemia
Megaloblastic anaemia results from impaired DNA synthesis, preventing the cells from dividing normally. Rather than dividing, they grow into large, abnormal cells.
most common cause megaloblastic anaemia
Pernicious anaemia accounts for 80% of cases of megaloblastic anaemia due to impaired absorption of vitamin B12.
vitamin b12 defienct values? what other invetsigations support?
Deficiency is likely: <148 picomole/L
Deficiency is probable: 148 to 258 picomole/L
Deficiency is unlikely: >258 picomole/L
Methylmalonic acid (MMA) and homocysteine (Hcy) level - both usually elevated with low B12- supports diagnosis
Presentation b12 defieciency
Haematological: anaemia and associated symptoms
Neurological: subacute combined degeneration of the spinal cord (SACD) - bilateral dorsal column signs, may have bilateral corticospinal tract signs (affects posterior cord)
and sensory loss peripheral neuropathy
Psychiatric: mild neurosis to severe dementia; depression, personality change, psychosis, bipolar disorder, panic disorder and phobia
presentation subacute degeneration of spinal cord
bilateral dorsal column signs, may have bilateral corticospinal tract signs (affects posterior cord)
prevention subacute combined degeneration of spinal cord
Always replace vitamin B12 before folate - giving folate to a patient deficient in B12 can precipitate subacute combined degeneration of the cord
causes b12 deficiency
Malabsorption, e.g. Pernicious anaemia, Helicobacter pylori infection, atrophic gastritis
Inadequate intake, e.g. vegan or vegetarian diet
Increase in requirement, e.g. pregnancy, hyperthyroidism
Drug induced (OCP)
Congenital, e.g. cobalamin transport disorder
investigations pernicious anaemia
Anti-intrinsic factor antibodies for pernicious anaemia
Anti-parietal cell antibodies (to confirm/refute if anti-intrinsic antibodies negative)
what are people with pernicious anaemia at increased risk of?
gastric cancer
management b12 deficieny
With neurological involvement
Replacement therapy:
- IM hydroxocobalamin 1mg once daily on alternative days until no further improvement
Maintenance therapy:
- IM Hydroxocobalamin 1mg, which usually lasts for life, once every 2 months
Without neurological involvement
Replacement therapy:
- IM Hydroxocobalamin 1mg three times a week for 2 weeks
Maintenance therapy (diet related):
- IM Hydroxocobalamin 1mg twice a year
Maintenance therapy (non-diet related):
- IM Hydroxocobalamin 1mg once every 2-3 months for life
Within 7 to 10 days of starting treatment, FBC should be performed to check for treatment response.
No response: check serum folate level
Haemoglobin level and reticulocyte index above normal range: adequate treatment
other name for b12
cobalamin
causes folate deficiency
Folate deficiency is often caused by problems with dietary intake alone, or in a combination with increased folate usage, or malabsorption. For example:
Drugs — alcohol, anticonvulsants, nitrofurantoin, sulfasalazine, methotrexate, trimethoprim.
Excessive requirements in pregnancy, malignancy, blood disorders, or malabsorption.
Excessive urinary excretion.
Liver disease.
management folate deficiency
Prescribe oral folic acid 5 mg daily — in most people, treatment will be required for 4 months.
However, folic acid may need to be taken for longer (sometimes for life) if the underlying cause of deficiency is persistent.
what do you need to check before giving folate
Check vitamin B12 levels in all people before starting folic acid
ALWAYS CORRECT B12 BEFORE FOLATE
Presentation coeliac disease
Coeliac disease is often asymptomatic, so have a low threshold for testing for coeliac disease in patients where it is suspected. Symptoms can include:
Failure to thrive in young children
Features may coincide with the introduction of cereals (i.e. gluten)
Diarrhoea
Fatigue
Weight loss
Mouth ulcers
Anaemia secondary to iron, B12 or folate deficiency
Dermatitis herpetiformis is an itchy blistering skin rash that typically appears on the abdomen
Rarely coeliac disease can present with neurological symptoms:
Peripheral neuropathy
Cerebellar ataxia
Epilepsy
genetic associations coeliac
HLA-DQ2 gene (90%)
HLA-DQ8 gene
auto-antibodies coeliac
Tissue transglutaminase antibodies (anti-TTG)
Endomysial antibodies (EMAs)
when testing for auto-antibodies, what else do you need to test for
total IgA
When you test for these antibodies, it is important to test for total Immunoglobulin A levels because if total IgA is low the coeliac test will be negative even when they have the condition. In this circumstance you can test for the IgG version of the anti-TTG or anti-EMA antibodies or do an endoscopy with biopsies.
