Haem - symptoms + signs Flashcards
Sickle cell anaemia symptoms + signs
Dactylitis Acute Chest syndrome Haemolytic anaemia Priapirsm Aplastic crisis
Signs of haemolysis
Hb low Haptoglobin low (problem of intravascular haemolysis) Unconjugated bilirubin raised LDH raised High urobilinogen
Haemolytic uraemic syndorme triad
MAHA (microangiopathic haemolytic anaemia)
Thrombocytopenia
AKI
Thrombotic Thrombocytopaenic purpura pentad
MAHA Decreased platelets AKI Temperature Swinging CNS signs Antiglobulin negative
HUS symptoms
Classic triad
• Microangiopathic haemolytic anaemia
• Thrombocytopenia
• AKI
• Most adults remain asymptomatic
Children
GI features
• Profuse diarrhoea that turns bloody 1-3 days later in children
• Fever, abdominal pain, vomiting
Renal features
• Oliguria
• Creatinine
Haemolytic features
• Jaundice
• Scleral icterus
• Conjunctival pallor
In broad terms, what is myelofibrosis?And 3 features
proliferation of an abnormal clone of haematopoietic stem cells in the BM + other sites results in fibrosis or the replacement of the marrow with scar tissue
Abnormal production of RBC, WBC, Plt
Marrow fibrosis
Extramedullary haematopoiesis
Myelofibrosis symptoms + signs
Clinical hallmarks
• Leukoerythroblastosis
• Splenomegaly - results in early satiety, generalised abdominal discomfort, LUQ discomfort
• Constitutional symptoms – hypercatabolic state as a result of high cell turnover o Weight loss (>10% over 6 months) o Night sweats o Low-grade fever o Cachexia o Fatigue o Pruritus
- Hepatomegaly present in about 50% of patients – due to multi-organ extra-medullary haematopoiesis
- Pallor
- Petechiae and ecchymosis
- Neutropenia may cause opportunistic infection e.g. oral thrush
- Lymphadenopathy
- Portal HTN
- Gout
Due to extra-medullary haematopoiesis • Pulmonary HTN • Spinal cord compression • Focal seizures • Ascites • Haematuria • Haemoptysis • Pericardial/pleural effusion • Respiratory failure
TTP symptoms
- MAHA
- Thrombocytopenia
o Epistaxis, bruising, petechiae, purpura, gingival bleeding, haematuria, menorrhagia, GIB, retinal haemorrhage, haemoptysis - AKI
o Proteinuria, micro-haematuria, raised U + Cr - Neurological dysfunctions
o Confusion, headache, focal abnormalities (paresis, aphasia, dysarthria, visual problems), seizures, encephalopathy, coma - Fever
• Digestive symptoms
o N, V, D, abdo pain
o Can be secondary to microthrombi in the bowel
- Chest pain, HF, arrythmias hypotension
- Jaundice – 2y to haemolysis
- Severe HTN
- Splenomegaly
Hodgkin’s lymphoma symptoms
- Non tender, firm rubbery lymphadenopathy (most commonly involving the cervical/supraclavicular node chain)
- Mediastinal lymphadenopathy (often asymptomatic but can cause dyspnoea, cough, chest pain, SVC syndrome)
- Pain at sites of lymphadenopathy after drinking alcohol
• B symptoms
o Weight loss >10% over 6 months
o Fever >38
o Night sweats
• Hepatomegaly, splenomegaly in advanced disease(SVC syndrome – dyspnoea, cough, orthopnoea, facial + upper extremity oedema, dilated neck veins)
Malaria symptoms
- Fever - Characteristic paroxysms of severe cold / rigors followed by severing sweating - cyclical fevers
- Chills
- Sweats
- Headache
- Arthralgia
- Myalgia
- Weakness
- Anorexia
- Diarrhoea
Malaria signs
- Splenomegaly
- Hepatomegaly
- Jaundice
- +/- abdominal tenderness
Malaria - severe disease symptoms + signs
Signs of severe disease (P. falciparium) • Impaired consciousness • SOB • Bleeding • Hypovolaemia • Hypoglycaemia • Fits • AKI • Nephrotic syndrome • ARDS (during treatment)
Myelodysplasia signs + symptoms
• Asymptomatic – typically patients are asymptomatic + the disease is identified based on laboratory findings
• Anaemia – fatigue, exercise intolerance, pallor, cardiac failure, tachycardia
• Leukopenia
o If granulocyte depletion occurs - recurrent/unusual infections or overwhelming sepsis
• Thrombocytopenia – petechiae, purpura, bruising, nosebleeds, bleeding from gums after brushing teeth, ecchymoses
Hallmark of haemophilia
Musculoskeletal bleeding (intramuscular haematoma, haemarthroses) Increased pressure can lead to compartment syndrome or nerve palsies
Type of bleeding more common in haemophilia B than A
GI + mucosal haemorrhage - haematemesis, melaena, frank red blood per rectum, abdominal pain
Signs of heamartoma
Warmth
Pain
Stiffness
Refusal to use a joint due to muscle haematoma or hemarthrosis
Haemochromatosis signs + symptoms
- Fatigue
- Weakness
- Lethargy
• Arthropathy –> Arthralgias
o Calcium pyrophosphate crystal deposition
o Pseudogout
o Chronic arthropathy
- Diabetes
- Hypogonadism (impotence, loss of libido, amenorrhoea)
• Heart disease
• Skin pigmentation
o May begin as bronzing of the skin but then progress to grey or brown with slate-grey patches in the mouth
• Neurological or psychiatric symptoms – impaired memory, mood swings, irritability, depression
Liver • Hepatomegaly • Fibrosis • Cirrhosis • Hepatocellular cancer
Leukaemia general symptoms and signs
- Anaemia
- Fatigue, dizziness lethargy, pallor, breathlessness, tachycardia
- Neutropenia
- Fever + other features of infection (e.g. pneumonia)
- Thrombocytopenia
- Bruising, petechiae, bleeding
- Lymphadenopathy
- Leucocytosis (blood becomes very viscous - visual disturbance, priapism, CVA, confusion)
- Bone pain (if acute leukaemia)
- Hepatosplenomegaly
Hyperuricaemia due to rapid cell turnover causes
- Gout (acute)
- Renal failure (chronic)
Evidence of cell infiltration in ALL
o Hepatosplenomegaly
o Bone pain
o Testicular enlargement (painless, unilateral)
o Thymic enlargement (mediastinal compression -stridor, wheeze, SVCO)
o Gum hypertrophy
o Renal enlargement
o CN palsies (esp. 3, 4, 6, 7)
o CNS (papilloedema, nuchal rigidity, meningisums, headache, irritability, altered mental status)
What are sanctuary sites?
Sites where systemic chemo can’t reach the cells
Testes + CNS
Multiple myeloma symptoms + signs
- Lethargy due to anaemia
- Hypercalcaemia (thirst, constipation, nausea, confusion)
- Bone pain (particularly backache)
- Pathological fractures
- Renal impairment
- Spinal cord/nerve root compression
- Anorexia
- Dehydration (due to proximal tubule dysfunction from L-chain precipitation)
- Recurrent bacterial infection
- Bleeding and/or bruising
- Amyloidosis (cardiac failure, nephrotic syndrome)
- Dizziness, confusion, blurred vision, headaches, epistaxis, CVA (due to hyperviscosity)
- skeletal lesions (osteolytic lesions, pepperpot skull, pathological fractures)
Sickle cell disorder symptoms + signs
Symptoms + signs begin bn 3-6m when HbF levels are falling
• Anaemia (haemolysis)
• Scleral icterus, jaundice, bilirubin gallstones (excess unconjugated bilirubin due to haemolysis)
• Increased reticulocytes- Intramedullary haematopoiesis
• Enlarged cheeks
• Hair on end appearance on skull XR- Extra-medullary haematopoiesis
• Hepatomegaly
- Vaso-occlusive/Sickle cell crises
- Splenic sequestration
- Aplastic crisis
- Hyper haemolytic crisis
Describe the vasoocclusive crisis/sickle cell crisis
Precipitated by cold, infection, dehydration, exertion, ischaemia
• Pain (from oxygen deprivation of tissues + avascular necrosis of the BM)
• Dactylitis
• Avascular necrosis of the femur
• Priapism
- Cerebral vasculature - Stroke, mental status changes, moyamoya (haemorrhage from microaneurysms which develop around infarctions to bypass blocked arteries)
- Kidneys - Haematuria, proteinuria, loin pain (renal papillary necrosis)
• Lungs - acute chest syndrome
o =New pulmonary infiltrate on the CXR combined with >1: fever, cough, sputum production, tachypnoea, dyspnoea, new-onset hypoxia
o Chest pain, SOB, cough
o Lung infections tend to predominate in children, infarcts predominate in adults
o Pt isn’t breathing efficiently - oxygen levels will sink even lower - this will precipitate more sickling
- Spleen - splenic infarct
- Abdomen - acute abdominal distension, pain (mesenteric sickling and bowel ischaemia)
- Eyes - hyphaema, retinal occlusion
Describe the aplastic crisis in sickle cell disease
Temporary cessation of erythropoiesis, causing severe anaemia
• Precipitated by infection with parvovirus B19
• Drop in Hb over one week
• Recovery may be spontaneous but transfusion is usually required
• With the severe anaemia associated with an aplastic crisis, patients may present with high-output CHF
Describe splenic sequestration in sickle cell disease
- Splenomegaly
- Acute splenic sequestration – acute fall in Hb, markedly elevated reticulocyte count, acute increase in spleen size
- Life-threatening complication
- Instead of just occluding the blood vessels, RBC can also get trapped inside the spleen along with a large portion of the circulating blood volume - this causes the spleen to massively enlarge
- Rapid drop in haemoglobin - circulatory collapse - hypovolaemic shock
- Recurrent splenic sequestration is an indication for splenectomy
- Not having a functional spleen - pt susceptible to encapsulated bacteria (Strept. Pneumoniae, Haemophilus influenza, N. Meningitis, Salmonella species)
Describe the hyperhaemolytic crisis in sickle cell disease
Hyper haemolytic crisis
• Excessive haemolysis
• Uncommon
• During painful crises here may be a marked increase in the rate of haemolysis + drop in Hb
A thalassaemia
Signs and symptoms of
- Silent carrier (3 α genes working)
- A thalassaemia trait (2 α genes working)
- A thalassaemia intermedia/ HbH (1 α gene working)
- A thalassaemia major /Hb Bart’s(0 α genes working)
Thalassaemia A - symptoms of haemolytic anaemia (e.g. pallor, hepatosplenomegaly) at birth
Silent carrier - anaemic, low MCV, low MCH, asymptomatic
A thalassaemia trait - anaemic, low MCV, low MCH, asymptomatic
A thalassaemia intermedia/ HbH- anaemic, low MCV, low MCH, splenomegaly, jaundice, bone changes
A thalassaemia major/ Hb Bart’s - severe non-immune intrauterine haemolytic anaemia, foetuses develops hydrops fetalis, usually fatal
B thalassaemia Signs and symptoms of β thalassaemia trait (-/β2) β thalassaemia intermedia (β+/β0 or β+/β+) β thalassaemia major (βο/βο)
o Normal beta globin chain synthesis - β2
o Reduced beta globin chain synthesis - β+
o Absent beta globin chain synthesis - β0
Thalassaemia B - symptoms of haemolytic anaemia (e.g. pallor, hepatosplenomegaly) several months after birth
o β thalassaemia trait - anaemic, low MCV, low MCH, asymptomatic
o β thalassaemia intermedia – anaemia, low MCV, low MCH, splenomegaly, bone changes, high HbF
o β thalassaemia major– very low MCV, very low MCH, severe haemolytic anaemia, hepatosplenomegaly, chronic transfusion dependency high HbF
Symptoms + signs of thalassaemia
Thalassaemia A - symptoms of haemolytic anaemia (e.g. pallor, hepatosplenomegaly) at birth
Thalassaemia B - symptoms of haemolytic anaemia (e.g. pallor, hepatosplenomegaly) several months after birth
• Β thalassaemia major in infancy - failure to thrive, vomiting, sleepiness, stunted growth, irritability
• Ineffective erythropoiesis creates a hypermetabolic state with fever
• Marked pallor, dizziness, SOB, fatigue
• Exercise intolerance, cardiac flow murmur, HF secondary to severe anaemia
• Bone deformities due to extramedullary haematopoiesis
o Chipmunk facies – frontal bossing, prominent facial bones, dental malocclusion
• Hepatosplenomegaly
• Jaundice, gallstones (due to haemolysis)
• Secondary haemochromatosis (due to haemolysis)
• Iron overload can cause endocrinopathy with diabetes, thyroid, adrenal, pituitary disorders
VWD symptoms + signs
- Mucocutaneous bleeding - epistaxis, menorrhagia, post natal haemorrhage (as opposed to haemophilia where musculoskeletal injury is the hallmark of the disease)
- GI + mucosal haemorrhage
- Bleeding from minor wounds
- Postoperative bleeding easy + excessive bleeding
- FHx of bleeding
PV symptoms + signs
- Starts at the plethoric stage, progresses to the spent stage
- Aquagenic pruritus worse after a hot shower/bath (increased basophils + mast cells release histamine)
- Splenomegaly
- Pt may look plethoric + have a ruddy complexion
- Non-specific complaints of lethargy + tiredness
- Thrombosis (1/3) – stroke, MI, DVT, PE
- Headache, dizziness, sweating (in decreasing order of frequency)
- Peptic ulceration
- GI haemorrhage, bleeding from gums, easy bruising
- Gout + kidneys tones (build up of uric acid)
- HTN
Antiphospholipid syndrome symptoms + signs
Triad of
- Recurrent miscarriages
- Thromboembolism
- Thrombocytopenia
- Peripheral artery thrombosis, DVT
- MI, Stroke
- Miscarriage (placental infarction), pre-eclampsia, IUGR
- Livedo reticularis (swelling of the venules due to clots), purpura, skin ulceration
- CVD, sinus thrombosis, headaches, seizures
- PE, Pulmonary HTN
- Renal failure
- Retinal thrombosis
- Arthritis/athralgia
- Catastrophic antiphospholipid syndrome rapid organ failure due to generalised thrombosis
- Thrombocytopenia, haemolytic anaemia
- Mitral valve disease or aortic valve disease – usually regurgitation +/- stenosis
Meded symptoms + signs summary • Recurrent miscarriages (3+) • VTE (venous problems) • Stroke/MIs, HTN (arterial problems) • Livedo reticularis (mottled)
Lymphadenompathy in CLL
Enlarged rubbery non-tender lymph nodes
MM crab
Calcium raised (>2.6 mmol/L) Renal impairment (serum Cr >176.8 μmol/L) Anaemia (Hb <100g/L or 20g below normal range) Bone pain, osteoporosis pathological fractures, lytic bone lesions
Classic triad of B12 deficiency + other symptoms
Paraesthesia
Glossitis
Tiredness
Weakness Fatigue Glossitis Changes in bowel habit (derangement in tissues with high cell turnover)
Peripheral neuropathy
Optic atrophy
Dementia
Subacute combined degeneration of the spinal cord (pyramidal tract weakness, mixed UMN + LMN signs, lower limb weakness)
Patients therefore present with Paraesthesia Muscle weakness Visual impairments Psychiatric disturbance DIFFICULTY WALKING
Non-hodgkin’s lymphoma symptoms + signs
- Systemic symptoms less common than in HL
- Organ involvement more common than in HL – skin rashes, headache, hepatosplenomegaly, sore throat, cough
- Night sweats
- Weight loss
- Fever
- Fatigue/malaise
- Lymphadenopathy
- Splenomegaly
DIC symptoms + signs
plus acute and chronic presentation of DIC
• Microvascular/macrovascular thrombosis o Purpura fulminans o Gangrene o Acral cyanosis o Delirium/coma
• Generalised bleeding (evidenced by at least 3 unrelated sites) o Petechiae o Ecchymosis o Oozing o Haematuria
• Circulatory collapse o Oliguria o Hypotension o Tachycardia o Confusion, disorientation
- Haemolytic features (jaundice, conjunctival pallor)
- Signs of ARDS
- Osmosis.org: widespread clotting, organ ischaemia, MAHA, decreased plt + clotting factors
Acute DIC: petechiae, purpura, ecchymoses, epistaxis, mucosal bleeding, hemorrhage, respiratory distress
Chronic DIC: signs of deep venous or arterial thrombosis or embolism
Aplastic anaemia symptoms + signs
- Anaemia – fatigue, pallor, chest pain, SOB
- Thrombocytopenia – increased risk of bleeding from minor injuries, mucosal bleeding, petechiae
- Leukocytopenia – Recurrent infections, sepsis
- (preceding hx of jaundice, usually 2-3 months before may indicate a post-hepatic aplastic anaemia)
triad of haemochromatosis
bronze skin
hepatomegaly
DM
