Rheumatology Disease Presentations

Question 1

I have a gradual-onset of symmetrical and proximal muscle weakness. I struggle to get up from chairs.
Give differential diagnosis, investigations and management.

Answer 1

-Polymyositis
-Anti-Jo-1 Antibody
-Corticosteroids

Question 2

I have a gradual-onset of symmetrical and proximal muscle weakness. I struggle to get up from chairs. I also have weird rashes on the back of my hands and eyelids.
Give differential diagnosis, investigations and management.

Answer 2

-Dermatomyositis
-Anti-Jo-1 Antibody
-Corticosteroids

Question 3

50 y/o obese female. I have joint pain and weakness in my hips and knees. It gets worse with activity at the end of the day. I have stiffness in the morning but only for about 30 minutes. The base of my hand is squaring and I have weird bumps on my hands.
Give differential diagnosis, investigations and management.

Answer 3

-Osteoarthritis
-Clinical Investigation, X-Ray
-Physio, exercise, weight loss
-Paracetamol or NSAIDS
-Joint replacement

Question 4

Patient had an X-Ray for Osteoarthritis what would we be looking for ?

Answer 4

LOSS
L - Loss of joint space
O - Osteophytes
S - Subchondral Sclerosis
S - Subchondral Cysts

Question 5

30 y/o woman. Smoker. Having joint pain and stiffness in hands and feet. There is also swelling in the PIP joints. Stiffness lasts >30 mins in the morning. It gets better with activity but is worse in the morning.
Give differential diagnosis, investigations and management.

Answer 5

-Rheumatoid Arthritis
-Rheumatoid factor and ANTI-CCP
-Short term prednisolone (steroid), DMARD (methotrexate and folic acid or hydroxychloroquine)

Question 6

Woman with Rheumatoid Arthritis is thinking of having a baby, what advice would you give her?

Answer 6

-Stop taking methotrexate 3-6 months before conceiving
-Use contraception in the meantime

Question 7

Patient has joint pain, stiffness and swelling in her spine, lower back and DIP joints. It is worse in the morning and after rest. She also has red, scaly patches on scalp and elbows.
Give differential diagnosis, investigations and management.

Answer 7

-Psoriatic arthritis
-PEST screening, X-ray (pencil in cup), erosion of bones at joint
-NSAIDS, Steroids, DMARDS, Anti-TNF,

Question 8

Name the 5 patterns of psoriatic arthritis

Answer 8

Asymmetrical oligoarthritis - 1-4 joints on one side of body
Symmetrical polyarthritis - Like Rheumatoid, >4 joints
Distal Interphalangeal predominant pattern - DIP joints
Spondylitis - Back stiffness and pain, axial skeleton (spine and sacroiliac joints)
Arthritis mutations - Destruction of bones around joints and shortening of the digits. Telescoping digit appearance.

Question 9

My knee has suddenly become really swollen and painful. It’s very warm. I’m struggling to pee and walk. Eye appears pink and red.
Give differential diagnosis, investigations and management.

Answer 9

-Reactive arthritis
-Bloods: Inflammatory markers raised, Joint fluid analysis to rule out septic
-Treat underlying condition, NSAIDS, severe: Steroid injection

Question 10

20 y/o man. Over 3 months I’ve been getting stiffness in my lower back and butt region, it wakes me up at night >30 min stiffness in morning. Improves with activity and worsens with rest. He also has chest pain.
Give differential diagnosis, investigations and management.

Answer 10

-Anklyosing spondylitis
-Schober’s test, HLAB27 genetic testing
-NSAIDS first line, Anti-TNF second line, steroid injections, physio

Question 11

Asian woman age 25. I have been having weight loss, fatigue and fever. My points feel stiff and I have this rash over my nose and cheeks.
Give differential diagnosis, investigations and management.

Answer 11

-SLE
-Autoantibodies: ANA (MOST IMPORTANT), Anti-dsDNA, APLS
-Suncream, avoid triggers etc…
Mild
-Hydroxychloroquine, NSAIDS, Steroids short term
Moderate
-Hydroxychloroquine, immunosuppressants for flareups, oral steroids short term
Severe
-IV Steroids or cyclophosphamide
Unresponsive
-IV Immunoglobulin
-Rituximab

Question 12

35 y/o female. I have been experiencing fatigue, weakness, joint stiffness and pain. My skin appears pretty inflamed and is looking quite thick and feels tight. My nose looks like it’s beaking almost.
Give differential diagnosis, investigations and management.

Answer 12

-Systemic Sclerosis
() Limited - CREST
() Diffuse - CREST + Other problems affecting internal organs
-Bloods: Inflammatory markers, autoantibodies - ANA, Anti-Centromere antibodiy, SCL-7
-Management is of symptoms, avoid smoking Raynaud’s: CCB, Oral vasodilators

Question 13

60 y/o caucasian man. Patient has has worsening pain and stiffness over the last few days. Neck pain, shoulder girdle pain and pelvic girdle pain. It takes 45 mins to ease in the morning, improves with activity, but is worse after rest.
Give differential diagnosis, investigations and management.

Answer 13

-Polymyalgia Rheumatica (WATCH FOR GCA)
-Mainly clinical diagnosis, Blood test, FBC , Thyroid, rheumatoid factor etc….
-Rapid and dramatic response to low dose steroids, Prednisolone 15mg daily reduce over 18months - 2 years

Question 14

A man presents to the GP with a headache on one side around his temple. It is very sore and he finds its affecting his vision, saying it is blurred. He is having difficulty chewing. He’s also having pelvic girdle pain. On examination his temporal artery is inflamed.
Give differential diagnosis, investigations and management.

Answer 14

-Giant Cell Arteritis
-Raised inflammatory markers, TEMPORAL ARTERY BIOPSY, Temporal artery USS
-Prednisolone 40-60mg, if relapse = methotrexate
-500mg-1000mg methylprednisolone for vision and jaw problems

Question 15

25 y/o woman with Lupus presents with DVT. She has also experienced 3 miscarriages.
Give differential diagnosis, investigations and management.

Answer 15

-Anti-phospholipid syndrome
-Anticardiolipin antibodies, Anti-β2-GPI antibodies, positive lupus anticoagulant assay, clotting screen
-Anticoagulation - acute LMWH then warfarin or aspirin

Question 16

30 y/o woman presents with joint pain and stiffness. She has very dry skin and eyes. She is struggling to engage in intercourse as she finds it painful.
Give differential diagnosis, investigations and management.

Answer 16

-Sjögren’s Syndrome
-Antibodies: Anti-Ro and Anti-La, Schrimer’s test, salivary gland biopsy but usually clinical diagnosis
-Treat symptoms: Artificial tears, vaginal lubricants and Hydroxychloroquine for joint pain

Question 17

Patient presents with joint and muscle pain, purple coloured non-blanching spots, and skin ulcers that look necrotic. They also have diarrhoea.
Give differential diagnosis, investigations and management.

Answer 17

-Vasculitis (unspecified)
-p-ANCA, c-ANCA, inflammatory markers CRP
-Steroids to affected area

Question 18

Patient presents with renal failure caused by glomerulonephritis and is coughing up blood. Give the differential diagnosis.

Answer 18

-Small-vessel vasculitis
-More specifically: Microscopic polyangitis

Question 19

Patient is having nose bleeds, hearing loss and sinusitis. They have a saddle-shaped nose on examination and a wheeze. Give the differential diagnosis.

Answer 19

-Small-vessel vasculitis
-Granulomatosis with Polyangiitis

Question 20

Patient presents with renal failure, ulcers, palpable purport, arthritis, abdominal pain and abnormal LFT’s. They also are sexually active and not using protection. Give differential diagnosis.

Answer 20

-Medium-vessel vasculitis
-Polyarteritis nodosa

Question 21

A 4 y/o boy has had a high fever for >5 days with a rash and conjunctivitis. He also has strawberry tongue.
Give differential diagnosis and treatment.

Answer 21

-Medium-vessel vasculitis
-Kawasaki diseaase
-Aspirin and IV immunoglobulins

Question 22

39 y/o man has presented with non-specific systemic symptoms like fever, malaise and muscle aces. He also has some claudication like pain and fatigue when using his right arm. Give differential diagnosis and investigations.

Answer 22

-Large-vessel vasculitis
-Takayasu’s Arteritis
-CT or MRI angiography

Question 23

A patient is having recurrent oral and genital ulcers. On examination they look like a red halo but heal over 2-4 weeks.
Give differential diagnosis, investigations and management.

Answer 23

-Behçet’s disease
-Pathergy test: Sterile needle to make pricks on forearm review 1-2 days later for redness and thickening of skin.
-Topical steroids for ulcers, and in severe biologic therapy

Question 24

A patient presents with hyper mobility, joint pain and stretchy skin.
Give differential diagnosis, investigations and management.

Answer 24

-Ehlers-Danlos Syndrome
-Beighton Score for hyper mobility, clinical diagnosis
-Physio, follow up, occupational therapy, psychology

Question 25

An obese 50 y/o male presents to A&E with a swollen, hot and painful right index finger. He is a smoker and drinks 4 units a day.
Give differential diagnosis, investigations and management.

Answer 25

-Gout
-Aspirate joint fluid: Needle shaped negatively birefringent of polarised light
-Treat flares with NSAIDS, Lifestyle changes and Allopurinol (<Prophylaxis is not started until weeks after the acute attack has resolved.)

Question 26

A patient 65 y/o has rapidly had a hot, swollen, stiff and painful knee. He has a fever and general malaise.
Give differential diagnosis, investigations and management.

Answer 26

-Pseudogout
-Joint aspiration: POSITIVELY BEFRINGENT RHOMBOID-SHAPED CRYSTALS MADE OF CALCIUM PYROPHOSPHATE
-NSAIDS, Rehydration

Question 27

A 70 y/o woman with a low BMI has presented to A&E with a fractured hip after a fall, but she has a history of fractures. She is a current smoker and drinks 2 glasses of wine a night.
Give differential diagnosis, investigations and management.

Answer 27

-Osteoperosis
-DEXA Scanning 2.5 below mean peak value
-Increase calcium intake, smoking cessation and reduce alcohol intake. BISPHOSPHONATES. (Alendronate 70mg once weekly)

Question 28

An 65 y/o black woman presents with GP with fatigue, bone pain, muscle weakness and aches. On blood test she has Vitamin D deficiency.
Give differential diagnosis, investigations and management.

Answer 28

-Osteomalacia
-Blood test: Low serum calcium and phosphate, high serum ALP and parathyroid hormone, X-ray, DEXA scan
-Colecalciferol 50,000 IU once weekly for 6 weeks

Question 29

Patient presents with bone pain, bone deformity, recurrent fractures and hearing loss. X-rays are done of the fractures and the radiologist finds a cotton wool appearance of the skull, bone enlargement and deformity like V-shaped osteolytic defects in the long bones.
Give differential diagnosis, investigations and management.

Answer 29

-Paget’s disease
-Blood test: Raised ALP, normal calcium and phosphate
-Bisphosphonates e.g. Alendronic Acid 70mg once weekly