medicine 3 Flashcards
RBCs develop from
from reticulocytes that comes from the myeloid stem cells.
platelets are made from
megakaryocytes
myeloid stem cells become promyelocytes that can then become
Monocytes then macrophages Neutrophils Eosinophils Mast Cells Basophils
anisocytosis refers too
variation in the size of red blood cells
target cells are seen in
iron deficiency anaemia and post-splenectomy.
heniz bodies cells are seen in
G6PD and alpha-thalassaemia.
howell-jolly bodies are seen in
post-splenectomy and in patients with severe anaemia where the body is regenerating red blood cells quickly.
howell jolly bodies specifically refer too
blobs of DNA inside the RBC
reticulocytes appear when there is
haemolytic anaemia
schistocytes are present when there is
haemolytic uraemic syndrome, disseminated intravascular coagulation (DIC) or thrombotic thrombocytopenia purpura, metallic heart valves or haemolytic anaemia
sideroblasts refer too
immature RBC’s with blobs of iron
sideroblasts are present in
myelodysplasic syndrome.
smudge cells are present in
chronic lymphocytic leukaemia.
spherocytes are present in
autoimmune haemolytic anaemia or hereditary spherocytosis.
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
A – Acute blood loss A – Anaemia of Chronic Disease A – Aplastic Anaemia H – Haemolytic Anaemia H – Hypothyroidism
causes of macrocytic anaemia and megaloblastic anaemia
B12 deficiency
Folate deficiency
causes of normoblastic macrocytic anaemia
Alcohol Reticulocytosis (usually from haemolytic anaemia or blood loss) Hypothyroidism Liver disease Drugs such as azathioprine
symptoms of anaemia
Tiredness Shortness of breath Headaches Dizziness Palpitations Worsening of other conditions such as angina, heart failure or peripheral vascular disease
specific symptoms of iron deficiency anaemia
Pica describes dietary cravings for abnormal things such as dirt and can signify iron deficiency
Hair loss can indicate iron deficiency anaemia
koilonychia
angular chelitis
atrophic glossitis
signs of anaemia
Pale skin
Conjunctival pallor
Tachycardia
Raised respiratory rate
anaemia Ix
Haemoglobin Mean Cell Volume (MCV) B12 Folate Ferritin Blood film
iron is absorbed in the
duodenum and jejunum
what medication could affect iron absorption
PPI
what chronic conditions could effect iron absorption
Crohn’s disease or coeliac disease
transferrin saturation =
serum iron/total iron binding capacity.
low serum ferritin indicates
iron deficiency anaemia
what marker could be used to indicate how much serum transferring there is
total iron binding capacity
what injury can give the impression of iron overload
acute liver damage
new iron deficiency in an adult with a underlying cause requires
oesophago-gastroduodenoscopy (OGD) and a colonoscopy to look for cancer of the gastrointestinal tract.
management of iron deficiency anaemia is with
blood transfusion, iron infusion or oral iron ferrous sulfate 200mg three times daily
pernicious anaemia refers too
low B12
pathophysiology of pernicious anaemia
parietal cells of the stomach produce a protein called intrinsic factor that is essential for vitamin B12 absorption in the ileum. autoantibodies are against parietal cells or intrinsic factor.
Vitamin B12 deficiency symptoms
Peripheral neuropathy with numbness or paraesthesia (pins and needles)
Loss of vibration sense or proprioception
Visual changes
Mood or cognitive changes
if there is a concurrent folate deficiency with a B12 deficiency what is the procedure
TREAT THE B12 FIRST
treating patients with folic acid when they have a B12 deficiency this can lead too
subacute combined degeneration of the cord
pernicious anaemia Tx is with
They can be treated with 1mg of intramuscular hydroxycobalamin
inherited haemolytic anaemias
Hereditary Spherocytosis Hereditary Elliptocytosis Thalassaemia Sickle Cell Anaemia G6PD Deficiency
features of haemolytic anaemia
splenomegaly, jaundice and anaemia
acquired haemolytic anaemias
Autoimmune haemolytic anaemia Alloimmune haemolytic anaemia (transfusions reactions and haemolytic disease of newborn) Paroxysmal nocturnal haemoglobinuria Microangiopathic haemolytic anaemia Prosthetic valve related haemolysis
Ix for haemolytic anaemias
Full blood count shows a normocytic anaemia
Blood film shows schistocytes (fragments of red blood cells)
Direct Coombs test is positive in autoimmune haemolytic anaemia
hereditary spherocytosis inheritance
autosomal dominant
presentation of hereditary spherocytosis
jaundice, gallstones, splenomegaly and notably aplastic crisis in the presence of the parvovirus.
dx of hereditary spherocytosis is by
presence of spherocytes on blood film
raised mean corpuscular haemoglobin concentration
raised reticulocytes
Tx for hereditary spherocytosis
folate supplementation
splenectomy
removal of the gall bladder if necessary
hereditary elliptocytosis inheritance
autosomal dominant
G6PD inheritance
X-linked recessive
G6PD crises can be triggered by
fava (broad beans) or medications (ciproloxacin, primaquine or sulfonylureas)
G6PD diagnosis is by
heinz bodies on blood film,
and a G6PD enzyme assay
symptoms of G6PD
jaundice (usually in the neonatal period), gallstones, anaemia, splenomegaly
two types of autoimmune haemolytic anaemia are
warm or cold
causes of warm autoimmune haemolytic anaemia
idiopathic
causes of cold autoimmune haemolytic anaemia
lymphoma, leukaemia, systemic lupus erythematosus and infections such as mycoplasma, EBV, CMV and HIV.
management of autoimmune haemolytic anaemia
Blood transfusions
Prednisolone (steroids)
Rituximab (a monoclonal antibody against B cells)
Splenectomy
alloimmune haemolytic anaemia causes
transfusion reaction or haemolytic disease of the newborn
Paroxysmal Nocturnal Haemoglobinuria pathology
mutation that results in loss of proteins on the RBC that inhibit complement cascade and destruction of RBC’s
presentation of Paroxysmal Nocturnal Haemoglobinuria
presentation is red urine in the morning containing haemoglobin and haemosiderin. The patient becomes anaemic due to the haemolysis. They are also predisposed to thrombosis (e.g. DVT, PE and hepatic vein thrombosis) and smooth muscle dystonia (e.g. oesophageal spasm and erectile dysfunction).
Mx of paroxysmal nocturnal haemoglobinuria
eculizumab or bone marrow transplantation
Microangiopathic Haemolytic Anaemia (MAHA) pathology
structural abnormalities in small vessels that causes haemolysis
normal haemoglobin consists of
two alpha and 2 beta chains
thalassaemia inheritance
autosomal recessive
signs and symptoms of thalassaemia
Microcytic anaemia (low mean corpuscular volume) Fatigue Pallor Jaundice Gallstones Splenomegaly Poor growth and development Pronounced forehead and malar eminences
Dx of thalassaemia
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
iron overload symptoms
Fatigue Liver cirrhosis Infertility and impotence Heart failure Arthritis Diabetes Osteoporosis and joint pain
alpha thalassaemia is caused by a mutation of chromosome
16
Mx of alpha thalassaemia
Monitoring the full blood count Monitoring for complications Blood transfusions Splenectomy may be performed Bone marrow transplant can be curative
beta thalassaemia is caused by a mutation on chromosome
11
thalassaemia beta minor causes
mild microcytic anaemia
thalassaemia beta intermedia genetic pathology
This can be either two defective genes or one defective gene and one deletion gene.
thalassaemia major genetics are
homozygous for the deletion genes.
thalassaemia major causes
Severe microcytic anaemia
Splenomegaly
Bone deformities
thalassaemia major requires
regular transfusions, iron chelation and splenectomy. Bone marrow transplant can potentially be curative.
sickle cell anaemia transmission
autosomal recessive
sickle cell anaemia effects which gene
beta globin on chromosome 11
sickle cell screening
newborn screening heel prick test
general management of sickle cell anaemia
antibiotic prophylaxis to protect against infection with penicillin V (phenoxymethypenicillin)
Hydroxycarbamide can be used to stimulate production of fetal haemoglobin (HbF).
vaccines
blood transfusion, bone marrow transplant, avoid dehydration
sickle cell crises Mx
NSAIDS, keep warm, hydrated
vaso occlusive crisis is caused by
clogging capillaries causing distal ischaemia.
vaso occlusive crisis can cause what emergency?
priapism
splenic sequestration crises refers too
red blood cells blocking blood flow within the spleen. This causes an acutely enlarged and painful spleen. The pooling of blood in the spleen can lead to a severe anaemia and circulatory collapse (hypovolaemic shock).
Mx of splenic sequestration crisis
preventative splenectomy, blood transfusion and fluid resus.
aplastic crisis refers too and is caused by what?
parvovirus B19
acute chest syndrome diagnosis requires
Fever or respiratory symptoms with
New infiltrates seen on a chest xray
management of acute chest syndrome requires
Antibiotics or antivirals for infections
Blood transfusions for anaemia
Incentive spirometry using a machine that encourages effective and deep breathing
Artificial ventilation
Age ranges for ALL
Under 5 and over 45 – acute lymphoblastic leukaemia (ALL)
age ranges for CLL
Over 55 – chronic lymphocytic leukaemia (CeLLmates)
age ranges for CML
Over 65 – chronic myeloid leukaemia (CoMmon)
age ranges for AML
Over 75 – acute myeloid leukaemia (AMbitions)
presentation of leukaemia
Fatigue Fever Failure to thrive (children) Pallor due to anaemia Petechiae and abnormal bruising due to thrombocytopenia Abnormal bleeding Lymphadenopathy Hepatosplenomegaly
differentials for petechiae
Leukaemia Meningococcal septicaemia Vasculitis Henoch-Schonlein Purpura (HSP) Idiopathic Thrombocytopenia Purpura (ITP) Non-accidental injury
how to diagnose leukaemia
FBC, blood film, LDH, bone marrow biopsy, CXR, lymph node biopsy, lumbar puncture, CT, MRI, PET
what are the different types of bone marrow biopsy
aspiration, trephine or biopsy
Acute lymphoblastic leukaemia pathology
acute proliferation of a single type of lymphocyte, usually B-lymphocytes. Excessive proliferation of these cells causes them to replace the other cell types being created in the bone marrow, leading to a pancytopenia.
Acute lymphoblastic leukaemia is associated with
down syndrome
Acute lymphoblastic leukaemia blood film shows
blast cells
Acute lymphoblastic leukaemia is associated with which gene
Philadelphia chromosome (t(9:22) translocation
Chronic lymphocytic leukaemia pathology
chronic proliferation of a single type of well differentiated lymphocyte, usually B-lymphocytes
Chronic lymphocytic leukaemia can cause
warm autoimmune haemolytic anaemia
Chronic lymphocytic leukaemia presents with
asymptomatic, infections, anaemia, bleeding and weight loss.
Chronic lymphocytic leukaemia can transform into
high-grade lymphoma
Chronic lymphocytic leukaemia blood film shows
smear or smudge cells
Chronic Myeloid Leukaemia
has what phases?
chronic, accelerated and blast
Chronic Myeloid Leukaemia chronic phase presentation
raised WCC and asymptomatic
Chronic Myeloid Leukaemia accelerated phase
develop anaemia and thrombocytopenia and become immunocompromised.
Chronic Myeloid Leukaemia blast phase
severe symptoms and pancytopenia. It is often fatal.
Chronic Myeloid Leukaemia genetics
Philadelphia chromosome, which is a translocation of genes between chromosome 9 and 22: it is a t(9:22) translocation.
acute myeloid leukaemia may arise from
myeloproliferative disorder such as polycythaemia ruby vera or myelofibrosis.
acute myeloid leukaemia blood film shows
high proportion of blast cells. These blast cells can have rods inside their cytoplasm that are named auer rods.
tumour lysis syndrome refers too
release of uric acid from cells that are being destroyed by chemotherapy.
complications of tumour lysis syndrome
crystals in the interstitial tissue and tubules of the kidneys and causes acute kidney injury.
Mx of tumour lysis syndrome
Allopurinol or rasburicase are used to reduce the high uric acid levels with monitoring of calcium and potassium.
Hodgkin’s Lymphoma is caused by
by proliferation of lymphocytes
Hodgkin’s Lymphoma age distribution
bimodal age distribution with peaks around aged 20 and 75 years.
risk factors for hodgkin’s lymphoma
HIV
Epstein-Barr Virus
Autoimmune conditions such as rheumatoid arthritis and sarcoidosis
Family history
presentation of hodgkin’s lymphoma
Lymphadenopathy is the key presenting symptom. pain on drinking alcohol.
B symptoms of hodgkin’s lymphoma
Fever
Weight loss
Night sweats
other symptoms of hodgkin’s lymphoma
Fatigue Itching Cough Shortness of breath Abdominal pain Recurrent infections
Ix for hodgkin’s lymphoma
lymph node biopsy, LDH, CT, MRI, PET
key finding from hodgkin’s lymphoma biopsy
Reed-Sternberg cells, they are large B cells with multiple nuclei and nucleoli
what is the staging system for lymphoma
ann arbor
stage 1 ann arbor
Confined to one region of lymph nodes.
stage 2 ann arbor
In more than one region but on the same side of the diaphragm (either above or below).
stage 3 ann arbor
Affects lymph nodes both above and below the diaphragm.
stage 4 ann arbor
Widespread involvement including non-lymphatic organs such as the lungs or liver.
notable non-hodgkin’s lymphomas include
Burkitt lymphoma is associated with Epstein-Barr virus, malaria and HIV.
MALT lymphoma affects the mucosa-associated lymphoid tissue, usually around the stomach. It is associated with H. pylori infection.
Diffuse large B cell lymphoma often presents as a rapidly growing painless mass in patients over 65 years.
Tx for non-hodgkin’s lymphoma
Watchful waiting Chemotherapy Monoclonal antibodies such as rituximab Radiotherapy Stem cell transplantation
myeloma is a cancer of the
plasma cells
Monoclonal gammopathy of undetermined significance (MGUS) refers too
incidental finding of excessive antibody/components without features of myeloma
Smouldering myeloma is where there is
progression of MGUS to a premalignant state.
Waldenstrom’s macroglobulinemia is a type of smouldering myeloma where there is excessive
IgM
what immunoglobulin is commonly produced in myeloma
IgG monoclonal paraprotein
what protein can be found in the urine of a myeloma patient?
“Bence Jones protein” that can be found in the urine of many patients with myeloma is actually a part (subunit) of the antibody called the light chains.
why does anaemia arise in myeloma?
The cancerous plasma cells invade the bone marrow. This is described as bone marrow infiltration.
myeloma bone disease is the result of
increased osteoclast activity and suppressed osteoblast activity. This is caused by cytokines released from the plasma cells and the stromal cells (other bone cells) when they are in contact with the plasma cells.
common sites for myeloma bone disease is
the skull, spine, long bones and ribs
the bone appearance in myeloma bone disease is
These patches of thin bone can be described as osteolytic lesions. These weak points in bone lead to pathological fractures.
what biochemical sign is associated with myeloma bone disease?
hypercalcaemia due to osteoclast activity
people with myeloma can also develop with concurrent cancer?
plasmacytomas. These are individual tumours made up of the cancerous plasma cells. They can occur in the bones,
myeloma renal disease factors
High levels of immunoglobulins (antibodies) can block the flow through the tubules
Hypercalcaemia impairs renal function
Dehydration
Medications
raised plasma viscosity in myeloma may cause
Easy bruising
Easy bleeding
Reduced or loss of sight due to vascular disease in the eye
Purple discolouration to the extremities (purplish palmar erythema)
Heart failure
four key features of myeloma
C – Calcium (elevated)
R – Renal failure
A – Anaemia (normocytic, normochromic) from replacement of bone marrow.
B – Bone lesions/pain
myeloma Ix
FBC (low white blood cell count in myeloma) Calcium (raised in myeloma) ESR (raised in myeloma) Plasma viscosity (raised in myeloma) serum protein electrophoresis urine bence-jones protein bone marrow biopsy imaging
BLIP testing for myeloma
B – Bence–Jones protein (request urine electrophoresis)
L – Serum‑free Light‑chain assay
I – Serum Immunoglobulins
P – Serum Protein electrophoresis
X-ray signs of myeloma
Punched out lesions
Lytic lesions
“Raindrop skull” caused by many punched out (lytic) lesions throughout the skull that give the appearance of raindrops splashing on a surface
first line for myeloma
chemotherapy with:
Bortezomid
Thalidomide
Dexamethasone
additional treatment of myeloma includes
stem cell transplant and VTE prophylaxis
Mx for myeloma bone disease
RT, orthopaedic surgery, bisphosphonates, cement augmentation
proliferating cell line: haematopoietic stem cell disease name is
primary myelofibrosis
proliferating cell line: erythroid cells disease name
polycythaemia vera
proliferating cell line: megakaryocyte disease name
essential thrombocythaemia
myeloproliferative disorders have a risk of progressing into
acute myeloid leukaemia
myeloproliferative disorders are associated with which genes
JAK2
MPL
CALR
what drug targets JAK2
ruxolitinib.
Myelofibrosis cytokine
fibroblast growth factor.
when the bone marrow is replaced by scar tissue in myelofibrosis what process may occur?
extramedullary haematopoiesis and can lead to hepatomegaly and splenomegaly. This can lead to portal hypertension. If it occurs around the spine it can lead to spinal cord compression.
presentation of myeloproliferative disorders systemically
Fatigue
Weight loss
Night sweats
Fever
signs and symptoms of the underlying complications of myeloproliferative disorders
Anaemia (except in polycythaemia)
Splenomegaly (abdominal pain)
Portal hypertension (ascites, varices and abdominal pain)
Low platelets (bleeding and petechiae)
Thrombosis is common in polycythaemia and thrombocythaemia
Raised red blood cells (thrombosis and red face)
Low white blood cells (infections)
A blood film in myelofibrosis can show
teardrop-shaped RBCs, varying sizes of red blood cells (poikilocytosis) and immature red and white cells (blasts).
Management of Primary Myelofibrosis
allogeneic stem cells transplant, chemotherapy, supportive management
Management of Polycythaemia Vera
venesection, aspirin, chemotherapy
Management of Essential Thrombocythaemia
aspirin and chemotherapy
Myelodysplastic syndrome is caused by the
myeloid bone marrow cells not maturing properly and therefore not producing healthy blood cells
Myelodysplastic syndrome may progress too
acute myeloid leukaemia
myelodysplastic syndrome is common in what demographic of patients?
60 years of age and in patients that have previously had treatment with chemotherapy or radiotherapy.
presentation of myelodysplastic syndrome
anaemia (fatigue, pallor or shortness of breath), neutropenia (frequent or severe infections) or thrombocytopenia (purpura or bleeding).
Dx of myelodysplastic syndrome
Full blood count will be abnormal. There may be blasts on the blood film.
The diagnosis is confirmed by bone marrow aspiration and biopsy.
thrombocytopenia production problems
Sepsis B12 or folic acid deficiency Liver failure causing reduced thrombopoietin production in the liver Leukaemia Myelodysplastic syndrome
thrombocytopenia destruction problems
Medications (sodium valproate, methotrexate, isotretinoin, antihistamines, proton pump inhibitors) Alcohol Immune thrombocytopenic purpura Thrombotic thrombocytopenic purpura Heparin induced thrombocytopenia Haemolytic-uraemic syndrome
differentials for abnormal or prolonged bleeding
Thrombocytopenia (low platelets)
Haemophilia A and haemophilia B
Von Willebrand Disease
Disseminated intravascular coagulation (usually secondary to sepsis)
ITP management
Prednisolone (steroids)
IV immunoglobulins
Rituximab (a monoclonal antibody against B cells)
Splenectomy
thrombotic thrombocytopenia purpura pathology
tiny blood clots develop throughout the small vessels which is due to the specific protein ADMTS13 without it VWF cannot be inactivated.
Tx for thrombotic thrombocytopenia purpura
plasma exchange, steroids and rituximab
heparin induced thrombocytopenia involves
development of antibodies against platelets in response to exposure to heparin
von willebrand disease inheritance is
autosomal dominant
what specific VWF is effected in von willebrand disease
glycoprotein
presentation of von willebrand disease
Bleeding gums with brushing
Nose bleeds (epistaxis)
Heavy menstrual bleeding (menorrhagia)
Heavy bleeding during surgical operations
Mx of von willebrand disease
Desmopressin can be used to stimulates the release of VWF
VWF can be infused
Factor VIII is often infused along with plasma derived VWF
haemophilia A is caused by a deficiency with
Factor 8
haemophilia B is caused by a deficiency with
factor 9
inheritance of haemophilia
X-linked recessive
signs and symptoms of haemophilia
spontaneous haemorrhage without any trauma.
haemoathrosis) and muscles are a classic feature of severe haemophilia.
Abnormal bleeding can occur in other areas:
Gums Gastrointestinal tract Urinary tract causing haematuria Retroperitoneal space Intracranial Following procedures
Mx of haemophilia
The affected clotting factors (VIII or IX) can be replaced by intravenous infusions.
Infusions of the affected factor (VIII or IX)
Desmopressin to stimulate the release of von Willebrand Factor
Antifibrinolytics such as tranexamic acid
RF for DVT are
Immobility Recent surgery Long haul flights Pregnancy Hormone therapy with oestrogen (combined oral contraceptive pill and hormone replacement therapy) Malignancy Polycythaemia Systemic lupus erythematosus Thrombophilia
thrombophilia conditions
Antiphospholipid syndrome (this is the one to remember for your exams) Antithrombin deficiency Protein C or S deficiency Factor V Leiden
VTE prophylaxis is with
low molecular weight heparin such as enoxaparin
DVT presentation is with
unilateral Calf or leg swelling Dilated superficial veins Tenderness to the calf (particularly over the site of the deep veins) Oedema Colour changes to the leg
what is the score for predicting risk of DVT
wells
Dx for DVT
D-dimer, US, CTPA for PE, V/Q for PE
Budd-Chiari syndrome is where a blood clot (thrombosis) develops in the
hepatic vein causing acute hepatitis
budd chiari triad
Abdominal pain
Hepatomegaly
Ascites
risk factors for osteoarthritis
obesity, age, occupation, trauma, being female and family history.
key X-ray changes for osteoarthritis
L – Loss of Joint Space
O – Osteophytes
S – Subarticular Sclerosis (increased density of the bone along the joint line)
S – Subchondral Cysts (fluid filled holes in the bone, aka geodes)
presentation of OA
joint pain and stiffness. This pain and stiffness tends to be worsened by activity. reduced function, instability and deformity.
hand signs in OA
Haberdens nodes (in the DIP joints) Bouchards nodes (in the PIP joints) Squaring at the base of the thumb at the carpo-metacarpal joint Weak grip Reduced range of motion
Mx for OA
Oral paracetamol and topical NSAIDs or topical capsaicin (chilli pepper extract).
Add oral NSAIDs and consider also prescribing a proton pump inhibitor (PPI) to protect their stomach such as omeprazole. They are better used intermittently rather than continuously.
Consider opiates such as codeine and morphine. These should be used cautiously as they can have significant side effects and patients can develop dependence and withdrawal. They also don’t work for chronic pain and result in patients becoming depending without benefitting from pain relief.
holistic support for OA includes
weight loss, PT, and OT, orthotics
procedures for OA
intra-articular steroid injections and joint replacement
genetic associations with rheumatoid arthritis
HLA DR4 (a gene often present in RF positive patients) HLA DR1 (a gene occasionally present in RA patients)
rheumatoid factor in RA binds to what
an autoantibody that targets the Fc portion of the IgG antibody.
rheumatoid factor is what type of immunoglobulin
IgM
other than Rheumatoid Factor what is another autoantibody in rheumatoid arthritis
Anti-citrullinated cyclic peptide antibodies
presentation of Rheumatoid arthritis
symmetrical distal polyarthropathy
Pain
Swelling
Stiffness
systemic symptoms of Rheumatoid arthritis
Fatigue
Weight loss
Flu like illness
Muscles aches and weakness
key history finding in rheumatoid arthritis
pain from an inflammatory arthritis is worse after rest but improves with activity. Pain from a mechanical problem such as osteoarthritis is worse with activity and improves with rest.
what joints are almost never effected by rheumatoid arthritis
distal interphalangeal joints are almost never affected by rheumatoid arthritis
what crisis may arise from atlantoaxial subluxation?
spinal cord compression
hand sings in rheumatoid arthritis
Z shaped deformity to the thumb Swan neck deformity (hyperextended PIP with flexed DIP) Boutonnieres deformity (hyperextended DIP with flexed PIP) Ulnar deviation of the fingers at the knuckle (MCP joints)
Boutonnieres deformity are due to
a tear in the central slip of the extensor components of the fingers. This means that when the patient tries to straighten their finger, the lateral tendons that go around the PIP (called the flexor digitorum superficialis tendons) pull on the distal phalynx without any other supporting structure, causing the DIPs to extend and the PIP to flex.
extra-articular manifestations of rheumatoid arthritis
Pulmonary fibrosis with pulmonary nodules (Caplan’s syndrome)
Bronchiolitis obliterans (inflammation causing small airway destruction)
Felty’s syndrome (RA, neutropenia and splenomegaly)
Secondary Sjogren’s Syndrome (AKA sicca syndrome)
Anaemia of chronic disease
Cardiovascular disease
Episcleritis and scleritis
Rheumatoid nodules
Lymphadenopathy
Carpel tunnel syndrome
Amyloidosis
Ix for rheumatoid arthritis
Check rheumatoid factor
If RF negative, check anti-CCP antibodies
Inflammatory markers such as CRP and ESR
X-ray of hands and feet
Ultrasound scan of the joints can be used to evaluate and confirm synovitis.
X-ray changes present for rheumatoid arthritis
Joint destruction and deformity
Soft tissue swelling
Periarticular osteopenia
Boney erosions
diagnostic rheumatoid arthritis criteria are
The joints that are involved (more and smaller joints score higher)
Serology (rheumatoid factor and anti-CCP)
Inflammatory markers (ESR and CRP)
Duration of symptoms (more or less than 6 weeks)
DAS28 score triad
Swollen joints
Tender joints
ESR/CRP result
Mx of rheumatoid arthritis
short course of steroids, NSAIDs and a PPI
DMARDS for RA
First line is monotherapy with methotrexate, leflunomide or sulfasalazine. Hydroxychloroquine can be considered in mild disease and is considered the “mildest” anti rheumatic drug.
Second line is 2 of these used in combination.
Third line is methotrexate plus a biological therapy, usually a TNF inhibitor.
Fourth line is methotrexate plus rituximab
biological therapies for RA
TNF inhibitors adalimumab, infliximab and etanercept and it is also worth remembering rituximab.
risk of use with biological therapies for RA
immunosuppression so patients are prone to serious infections. They can also lead to reactivation of dormant infections such as TB and hepatitis B.
methotrexate mechanism
Methotrexate works by interfering with the metabolism of folate and suppressing certain components of the immune system.
methotrexate requires what to be co-prescribed
folic acid 5mg
SE of methotrexate
Mouth ulcers and mucositis Liver toxicity Pulmonary fibrosis Bone marrow suppression and leukopenia (low white blood cells) It is teratogenic
leflunomide mechanism
mmunosuppressant medication that works by interfering with the production of pyrimidine. Pyrimidine is an important component of RNA and DNA.
leflunomide SE
Mouth ulcers and mucositis Increased blood pressure Rashes Peripheral neuropathy Liver toxicity Bone marrow suppression and leukopenia (low white blood cells) It is teratogenic
Hydroxychloroquine mechanism
It acts as an immunosuppressive medication by interfering with Toll-like receptors, disrupting antigen presentation and increasing the pH in the lysosomes of immune cells.
SE of hydroxychloroquine
Nightmares
Reduced visual acuity (macular toxicity)
Liver toxicity
Skin pigmentation
rituximab mechanism
monoclonal antibody that targets the CD20 protein on the surface of B cells
Sulfasalazine SE
male infertility (reduces sperm count)
rituximab SE
Vulnerability to severe infections and sepsis Night sweats Thrombocytopenia (low platelets) Peripheral neuropathy Liver and lung toxicity
psoriatic arthritis is part of what group of conditions?
“seronegative spondyloarthropathy”
Spondylitic pattern
Back stiffness
Sacroiliitis
Atlanto-axial joint involvement
signs of psoriatic arthritis
Plaques of psoriasis on the skin
Pitting of the nails
Onycholysis (separation of the nail from the nail bed)
Dactylitis (inflammation of the full finger)
Enthesitis (inflammation of the entheses, which are the points of insertion of tendons into bone)Plaques of psoriasis on the skin
Pitting of the nails
Onycholysis (separation of the nail from the nail bed)
Dactylitis (inflammation of the full finger)
Enthesitis (inflammation of the entheses, which are the points of insertion of tendons into bone)
other associations with psoriatic arthritis
Eye disease (conjunctivitis and anterior uveitis) Aortitis (inflammation of the aorta) Amyloidosis
x-ray changes with psoriatic arthritis
Periostitis is inflammation of the periosteum causing a thickened and irregular outline of the bone
Ankylosis is where bones joining together causing joint stiffening
Osteolysis is destruction of bone
Dactylitis is inflammation of the whole digit and appears on the xray as soft tissue swelling
Pencil-in-cup appearance
pencil cup appearance X-ray with psoriatic arthritis refers to
This is where there are central erosions of the bone beside the joints and this causes the appearance of one bone in the joint being hollow and looking like a cup whilst the other is narrow and sits in the cup.
Arthritis Mutilans refers too
severe form of psoriatic arthritis. This occurs in the phalanxes. There is osteolysis
arthritis mutilans may lead too
This leads to progressive shortening of the digit. The skin then folds as the digit shortens giving an appearance that is often called a “telescopic finger”.
MX for psoriatic arthritis is with
NSAIDs for pain
DMARDS (methotrexate, leflunomide or sulfasalazine)
Anti-TNF medications (etanercept, infliximab or adalimumab)
Ustekinumab is last line (after anti-TNF medications) and is a monoclonal antibody that targets interleukin 12 and 23
Reiter Syndrome is known as
Reactive arthritis is where synovitis occurs in the joints or acute monoarthritis
Reiter Syndrome presents as
warm, swollen and painful joint.
common infections that could cause reactive arthritis are
gastroenteritis or sexually transmitted infection. Chlamydia
associations with reactive arthritis
Bilateral conjunctivitis (non-infective)
Anterior uveitis
Circinate balanitis is dermatitis of the head of the penis
“can’t see, pee or climb a tree”.
Mx of reactive arthritis
exclude septic arthritis
NSAIDs
Steroid injections into the affected joints
Systemic steroids may be required, particularly where multiple joints are affected
ankylosing spondylitis is a part of what group of conditions
seronegative sponyloarthropathy
ankylosing spondylitis affects which joints
acroiliac joints and the joints of the vertebral column.
ankylosing spondylitis progressively leads too
fusion of the spine and sacroiliac and bamboo spine on X-ray
ankylosing spondylitis is associated with
HLA B27 gene.
ankylosing spondylitis presents with
lower back pain and stiffness and sacroiliac pain in the buttock region. The pain and stiffness is worse with rest and improves with movement. The pain is worse at night and in the morning and may wake them from sleep. It takes at least 30 minutes for the stiffness to improve in the morning and it gets progressively better with activity throughout the day.
key complication of ankylosing spondylitis is
vertebral fractures
ankylosing spondylitis is associated with
chest pain, enthesitis, dactylitis, anaemia, anterior uveitis, aortitis, heart block, restrictive lung disease, pulmonary fibrosis and inflammatory bowel disease
what examination test is used in ankylosing spondylitis
Schober’s test
Schobers test involves
finding L5, marking 10cm above and 5 cm below and having the patient bend forward, if less than 20cm it is likely ankylosing spondylitis
Ix of ankylosing spondylitis
Inflammatory markers (CRP and ESR) may rise with disease activity
HLA B27 genetic test
Xray of the spine and sacrum
MRI of the spine can show bone marrow oedema early in the disease before there are any xray changes
X-ray of ankylosing spondylitis
Squaring of the vertebral bodies
Subchondral sclerosis and erosions
Syndesmophytes are areas of bone growth where the ligaments insert into the bone. They occur related to the ligaments supporting the intervertebral joints.
Ossification of the ligaments, discs and joints. This is where these structures turn to bone.
Fusion of the facet, sacroiliac and costovertebral joints
medication for ankylosing spondylitis
NSAIDS, steroids, Anti-TNF medications such as etanercept or a monoclonal antibody against TNF such as infliximab, adalimumab or certolizumab pegol are known to be effective in treating the disease activity in AS.
Secukinumab is a monoclonal antibody against interleukin-17
leading causes of death in lupus
Cardiovascular disease and infection
pathophysiology of lupus is
anti-nuclear antibodies target cell nucleus
presentation of lupus
Fatigue Weight loss Arthralgia (joint pain) and non-erosive arthritis Myalgia (muscle pain) Fever Photosensitive malar rash. This is a “butterfly” shaped rash across the nose and cheek bones that gets worse with sunlight. Lymphadenopathy and splenomegaly Shortness of breath Pleuritic chest pain Mouth ulcers Hair loss Raynaud’s phenomenon
Ix for lupus
Autoantibodies (see below)
Full blood count (normocytic anaemia of chronic disease)
C3 and C4 levels (decreased in active disease)
CRP and ESR (raised with active inflammation)
Immunoglobulins (raised due to activation of B cells with inflammation)
Urinalysis and urine protein:creatinine ratio for proteinuria in lupus nephritis
Renal biopsy can be used to investigate for lupus nephritis
autoantibodies associated with lupus
Anti-double stranded DNA (anti-dsDNA) and anti-nuclear antibodies, anti-smith
limited cutaneous systemic sclerosis autoantibody
Anti-centromere antibodies
Sjogren’s syndrome autoantibody
Anti-Ro and Anti-La
systemic sclerosis autoantibody
Anti-Scl-70
dermatomyositis autoantibody
Anti-Jo-1
what syndrome can occur secondary to SLE
Antiphospholipid antibodies and antiphospholipid syndrome
first line Tx for lupus are
NSAIDs
Steroids (prednisolone)
Hydroxychloroquine (first line for mild SLE)
Suncream and sun avoidance for the photosensitive the malar rash
biological therapies for SLE
Rituximab is a monoclonal antibody that targets the CD20 protein on the surface of B cells
Belimumab is a monoclonal antibody that targets B-cell activating factor
immunosuppressants used for SLE
Methotrexate Mycophenolate mofetil Azathioprine Tacrolimus Leflunomide Ciclosporin
Discoid Lupus Erythematosus may progress too
SLE or rarely squamous cell carcinoma
presentation of discoid lupus erythematosus
The lesions typically occur on the face, ears and scalp. They are photosensitive, meaning that they are made worse by exposure to sunlight. They are associated with scarring alopecia (hair loss in affected areas that does not grow back) and hyper-pigmented or hypo-pigmented scars.
The appearance of the lesions are:
Inflamed Dry Erythematous Patchy Crusty and scaling
DX of discoid lupus erythematosus is with
skin biopsy
discoid lupus erythematosus Tx
Sun protection
Topical steroids
Intralesional steroid injections
Hydroxychloroquine
Systemic sclerosis is an
autoimmune inflammatory and fibrotic connective tissue disease.
Systemic sclerosis two patterns
Limited cutaneous systemic sclerosis
Diffuse cutaneous systemic sclerosis
Limited Cutaneous Systemic Sclerosis presentation
C – Calcinosis R – Raynaud’s phenomenon E – oEsophageal dysmotility S – Sclerodactyly T – Telangiectasia
Diffuse Cutaneous Systemic Sclerosis presentation
includes the features of CREST syndrome plus many internal organs causing:
Cardiovascular problems, particularly hypertension and coronary artery disease.
Lung problems, particularly pulmonary hypertension and pulmonary fibrosis.
Kidney problems, particularly glomerulonephritis and a condition called scleroderma renal crisis.
Sclerodactyly describes
kin tightens around joints it restricts the range of motion in the joint and reduces the function of the joints. As the skin hardens and tightens further the fat pads on the fingers are lost. The skin can break and ulcerate.
autoantibodies associated with systemic sclerosis
Antinuclear antibodies (ANA)
Anti-centromere antibodies are most associated with limited cutaneous systemic sclerosis.
Anti-Scl-70 antibodies are most associated with diffuse cutaneous systemic sclerosis
Ix for raynaud’s phenomenon
Nailfold Capillaroscopy to exclude systemic sclerosis
diffuse disease systemic sclerosis is usually treated with
Steroids and immunosuppressants
symptoms of Raynaud’s phenomenon Tx
Nifedipine
Polymyalgia rheumatica is associated with
giant cell arteritis
features of polymyalgia rheumatica
Bilateral shoulder pain that may radiate to the elbow
Bilateral pelvic girdle pain
Worse with movement
Interferes with sleep
Stiffness for at least 45 minutes in the morning
other features of polymyalgia rheumatica
Systemic symptoms such as weight loss, fatigue, low grade fever and low mood
Upper arm tenderness
Carpel tunnel syndrome
Pitting oedema
Tx with polymyalgia rheumatica
Initially patients are started on 15mg of prednisolone per day.
steroid rules
don’t STOP
make them steroid aware sick day rules treatment card osteoporosis prevention PPI
key complication of giant cell arteritis is
vision loss
symptoms of giant cell arteritis
The main presenting feature is a headache:
Severe unilateral headache typically around temple and forehead
Scalp tenderness my be noticed when brushing hair
Jaw claudication
Blurred or double vision
Irreversible painless complete sight loss can occur rapidly
diagnosis of giant cell arteritis
Clinical presentation
Raised ESR: usually 50 mm/hour or more
Temporal artery biopsy findings
additional investigations for giant cell arteritis
Full blood count may show a normocytic anaemia and thrombocytosis (raised platelets)
Liver function tests can show a raised alkaline phosphatase
C reactive protein is usually raised
Duplex ultrasound of the temporal artery shows the hypoechoic halo sign
giant cell artery biopsy shows
Multinucleated giant cells
initial management for giant cell artery biopsy
Start steroids immediately before confirming the diagnosis to reduce the risk of permanent sight loss. Start 40-60mg prednisolone per day
other medications for giant cell artery biopsy
Aspirin 75mg daily decreases visual loss and strokes
Proton pump inhibitor
referrals for giant cell artery biopsy
vascular surgeons, rheumatology and ophthalmology
long term complications of giant cell arteritis
Relapses of the condition are common
Steroid related side effects and complications
Cerebrovascular accident (stroke)
Aortitis leading to aortic aneurysm and aortic dissection
key diagnosis for myositis is
creatine kinase
Polymyositis or dermatomyositis can be caused by
paraneoplastic syndromes for: Lung Breast Ovarian Gastric
presentation for Polymyositis or dermatomyositis is
Muscle pain, fatigue and weakness
Occurs bilaterally and typically affects the proximal muscles
Mostly affects the shoulder and pelvic girdle
Develops over weeks
Dermatomyositis Skin Features
Gottron lesions (scary erythematous patches) on the knuckles, elbows and knees
Photosensitive erythematous rash on the back, shoulders and neck
Purple rash on the face and eyelids
Periorbital oedema (swelling around the eyes)
Subcutaneous calcinosis
Autoantibodies in dermatomyositis and polymyositis is
Anti-Jo-1 antibodies: polymyositis (but often present in dermatomyositis)
Anti-Mi-2 antibodies: dermatomyositis.
Anti-nuclear antibodies: dermatomyositis.
Dx of dermatomyositis and polymyositis
Clinical presentation Elevated creatine kinase Autoantibodies Electromyography (EMG) Muscle biopsy
Mx dermatomyositis and polymyositis
corticosteroids
Immunosuppressants (such as azathioprine)
IV immunoglobulins
Biological therapy (such as infliximab or etanercept)
Antiphospholipid syndrome pathology
hyper-coagulable state. The main associations are with thrombosis and complications in pregnancy, particularly recurrent miscarriage.
Antiphospholipid syndrome associated with what autoantibodies
Lupus anticoagulant
Anticardiolipin antibodies
Anti-beta-2 glycoprotein I antibodies
Antiphospholipid syndrome Livedo reticularis refers too
a purple lace like rash that gives a mottled appearance to the skin.
Antiphospholipid syndrome Libmann-Sacks endocarditis refers too
on-bacterial endocarditis where there are growths (vegetations) on the valves of the heart.
Mx of anti-phospholipid syndrome
Long term warfarin with an INR range of 2-3 is used to prevent thrombosis. during pregnancy women are started on low molecular weight heparin.
Sjogren’s Syndrome refers too and causes
autoimmune condition that affects the exocrine glands. It leads to the symptoms of dry mucous membranes, such as dry mouth, dry eyes and dry vagina.
Sjogren’s is associated with what autoantibodies
anti-Ro and anti-La antibodies.
Sjogren’s key examination test
Schirmer test (<10mm is significant)
Mx of Sjogren
Artificial tears
Artificial saliva
Vaginal lubricants
Hydroxychloroquine is used to halt the progression of the disease.
small vasculitis types
Henoch-Schonlein purpura
Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss syndrome)
Microscopic polyangiitis
Granulomatosis with polyangiitis (Wegener’s granulomatosis)
medium vessel vasculitis types
Polyarteritis nodosa
Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss syndrome)
Kawasaki Disease
large vessel vasculitis types
Giant cell arteritis
Takayasu’s arteritis
presentation of vasculitis
Purpura. These are purple-coloured non-blanching spots caused by blood leaking from the vessels under the skin.
Joint and muscle pain
Peripheral neuropathy
Renal impairment
Gastrointestinal disturbance (diarrhoea, abdominal pain and bleeding)
Anterior uveitis and scleritis
Hypertension
systemic features of vasculitis
Fatigue Fever Weight loss Anorexia (loss of appetite) Anaemia
Tests for vasculitis
Inflammatory markers (CRP and ESR), Anti neutrophil cytoplasmic antibodies (ANCA)
p-ANCA (MPO antibodies) associated with
Microscopic polyangiitis and Churg-Strauss syndrome
c-ANCA (PR3 antibodies) associated with
Wegener’s granulomatosis
management of vasculitis is with
steroids, Cyclophosphamide Methotrexate Azathioprine Rituximab and other monoclonal antibodies
Henoch-Schonlein Purpura (HSP) is what specific type of vasculitis
IgA
four classic features of henoch-schonlein purpura is
purpura (100%), joint pain (75%), abdominal pain (50%) and renal involvement
Eosinophilic granulomatosis with polyangiitis used to be called Churg-Strauss syndrome - presents with
lung and skin problems, often with severe asthma in later years
characteristic blood finding with churg-strauss syndrome is
elevated eosinophil levels on the full blood count
main feature of Microscopic polyangiitis is
renal failure effecting the lungs causing SOB and haemoptysis
Granulomatosis with polyangiitis effects
respiratory tract and kidneys: epistaxis, hearing loss and sinuses causing sinusitis, saddle shaped nose, cough, wheeze, haemoptysis and glomerulonephritis
Polyarteritis Nodosa is associated with
hepatitis B but can also occur without a clear cause or with hepatitis C and HIV.
features of kawasaki disease
Clinical features are:
Persistent high fever > 5 days
Erythematous rash
Bilateral conjunctivitis
Erythema and desquamation (skin peeling) of palms and soles
“Strawberry tongue” (red tongue with prominent papillae)
key complication of kawasaki disease is
coronary artery aneurysms
coronary artery aneurysms Tx
aspirin and IV immunoglobulins.
Takayasu’s arteritis can cause
aneurysms or become narrowed and blocked arteries
the other name for Takayasu’s arteritis is
pulseless disease
Takayasu’s arteritis present as
fever, malaise and muscle aches, or with more specific symptoms of arm claudication or syncope.
Dx with takayasu’s disease is with
CT or MRI angiography. Doppler ultrasound of carotids.
Behçet’s disease characteristic feature
recurrent genital and mouth ulcers
Behçet’s skin presentation
Erythema nodosum
Papules and pustules (similar to acne)
Vasculitic type rashes
Behçet’s eye presentation
Anterior or posterior uveitis
Retinal vasculitis
Retinal haemorrhage
Behçet’s MSK presentation
Morning stiffness
Arthralgia
Oligoarthritis often affecting the knee or ankle. This causes swelling without joint destruction.
Behçet’s veins presentation
Budd Chiari syndrome
Deep vein thrombosis
Thrombus in pulmonary veins
Cerebral venous sinus thrombosis
Behçet’s CNS presentation
Memory impairment
Headaches and migraines
Aseptic meningitis
Meningoencephalitis
Behçet’s investigation and method
pathergy test involves using a sterile needle to create a subcutaneous abrasion on the forearm. This is then reviewed 24 – 48 hours later to look for a weal 5mm or more in size. It tests for non-specific hypersensitive in the skin. It is positive in Behçet’s disease, Sweet’s syndrome and pyoderma gangrenosum.
Behçet’s Mx
topical/systemic steroids, colchicine, topical anaesthetics, immunosupressants azathioprine and biologic therapy infliximab
prognosis of Behcet’s
relapsing remitting condition
gout pathology
crystal arthropathy associated with chronically high blood uric acid levels. Urate crystals are deposited in the joint causing it to become hot, swollen and painful.
what joint is most commonly affected in the hands with gout
DIP joints
RF of gout
Male Obesity High purine diet (e.g. meat and seafood) Alcohol Diuretics Existing cardiovascular or kidney disease Family history
typical joints effected in gout
Base of the big toe (metatarsophalangeal joint)
Wrists
Base of thumb (carpometacarpal joints)
aspiration of a gout joint will reveal
No bacterial growth
Needle shaped crystals
Negative birefringent of polarised light
Monosodium urate crystals
joint presentation of gout on an X-ray
Typically the space between the joint is maintained
Lytic lesions in the bone
Punched out erosions
Erosions can have sclerotic borders with overhanging edges
acute gout flare Tx
NSAIDs (e.g. ibuprofen) are first-line
Colchicine second-line
Steroids can be considered third-line
prophylaxis with gout is
Allopurinol is a xanthine oxidase inhibitor used for the prophylaxis of gout and lifestyle
the rule for allopurinal prophylaxis is
wait until after an acute attack
pseudogout is
crystal arthropathy caused by calcium pyrophosphate crystals (also called chondrocalcinosis)
presentation with pseudogout
hot, swollen, stiff, painful knee. Other joints that are commonly affected are the shoulders, wrists and hips.
pseudogout aspirated fluid will reveal
No bacterial growth
Calcium pyrophosphate crystals
Rhomboid shaped crystals
Positive birefringent of polarised light
X-ray presentation of pseudogout
L – Loss of joint space
O – Osteophytes
S – Subarticular sclerosis
S – Subchondral cyst
Chondrocalcinosis is the classic xray change in pseudogout. It appears as a thin white line in the middle of the joint space caused by the calcium deposition.
Mx for pseudogout
NSAIDs Colchicine Joint aspiration Steroid injections Oral steroids Joint washout (arthrocentesis) is an option in severe cases.
RF for osteoporosis
Older age Female Reduced mobility and activity Low BMI (<18.5 kg/m2) Rheumatoid arthritis Alcohol and smoking Long term corticosteroids
fragility fracture risk assessment is with
FRAX tool
T score of -1 to -2.5
osteopenia
T score less than -2.5
osteoporosis
T score less than 2.5 plus a fracture
osteoporosis
Mx of osteoporosis
Activity and exercise Maintain a health weight Adequate calcium intake Adequate vitamin D Avoiding falls Stop smoking Reduce alcohol consumption
first line medication for osteoporosis for
Bisphosphonates such as Zolendronic acid 5 mg once yearly (intravenous)
SE for bisphosphonates
Reflux and oesophageal erosions. Oral bisphosphonates are taken on an empty stomach sitting upright for 30 minutes before moving or eating to prevent this.
Atypical fractures (e.g. atypical femoral fractures)
Osteonecrosis of the jaw
Osteonecrosis of the external auditory canal
osteomalacia pathophysiology
Inadequate vitamin D leads to a lack of calcium and phosphate in the blood. Since calcium and phosphate are required for the construction of bone, low levels result in defective bone mineralisation. Low calcium causes a secondary hyperparathyroidism as the parathyroid gland
vitamin D is created by
cholesterol by the skin in response to the UV radiation
presentation with vitamin D
Fatigue Bone pain Muscle weakness Muscle aches Pathological or abnormal fractures
Ix for osteomalacia
Serum 25-hydroxyvitamin D
Serum calcium is low
Serum phosphate is low
Serum alkaline phosphatase may be high
Parathyroid hormone may be high (secondary hyperparathyroidism)
Xrays may show osteopenia (more radiolucent bones)
DEXA scan shows low bone mineral density
Tx with osteomalacia
supplementary vitamin D
Paget’s disease refers too
excessive bone turnover (formation and reabsorption) due to excessive activity of both osteoblasts and osteoclasts.
presentation of Paget’s disease
Bone pain
Bone deformity
Fractures
Hearing loss can occur if it affects the bones of the ear
X-ray findings for paget’s disease
Bone enlargement and deformity
“Osteoporosis circumscripta” describes well defined osteolytic lesions that appear less dense compared with normal bone
“Cotton wool appearance” of the skull describes poorly defined patchy areas of increased density (sclerosis) and decreased density (lysis)
“V-shaped defects” in the long bones are V shaped osteolytic bone lesions within the healthy bone
biochemistry for paget’s disease of bone
Raised alkaline phosphatase (and other LFTs are normal)
Normal calcium
Normal phosphate
Mx for paget’s disease
bisphosphonates
NSAIDs for bone pain
Calcium and vitamin D supplementation, particularly whilst on bisphosphonates
Surgery is rarely required for fractures, severe deformity or arthritis
two key complications for paget’s disease of bone
Osteogenic sarcoma (osteosarcoma) Spinal stenosis and spinal cord compression
