Rheum/ Ortho

Question 1

Hyper mobility collagen syndromes , what are the two to be aware of

Answer 1

Ehlers danlos syndrome and marfans syndrome

Question 2

Presentation of hyper mobile ehlers danlos syndrome

Answer 2

Hyper mobile joints
Joint pain after exercise
Soft and stretchy skin

Question 3

What are the associations of hyper mobile EDS

Answer 3

High arched palate and dental crowding
Spine scoliosis
Arm span height ration >1.05

Question 4

What is the Beighton score, and what is significant for it

Answer 4

Used to assess hyper mobility

Palms flat on floor with straight legs=1
Elbows hyper extended (1 for each side)
Knees hyperextended(1 on each side)
Thumb can touch forearm (1 on each side)
Little finger can bend past 90 degrees

Score of more than 6 suggests hyper mobility

Question 5

What causes marfans syndrome

Answer 5

Autosomal dominant mutation of FBN1 coding for fibrillin

Question 6

Clinical features of marfans

Answer 6

MSK- long limbs and fingers. Chest wall deformities. Scoliosis and hypermobitlity

CVS- aortic root dilation, aortic regurgitation, mitral and tricuspid prolapse. Most seriously aortic aneurysm and aortic dissection

Pneumothorax and restrictive lung disease

Question 7

Definition of JIA

Answer 7

Joint pain for more than 6 weeks
Age less than 16

Diagnosis of exclusion following excluding infection and malignant

Question 8

Investigations for JIA

Answer 8

FBC, CRP, ESR, u and e and lft

Urine dip

To exclude infection- blood culture, throat swab and viral PCR

To exclud malignancy (leukiemia and lymphoma) - bone marrow biopsy and lymph node biopsy

Question 9

Most common type of JIA

Answer 9

Polyarticular >more than 5 joints affected

Question 10

What are the features of systemic JIA (Stills disease)

Answer 10

Subtle salmon pink rash
High swinging quotidian fevers
Generalised lymphadenopathy
Weight loss
Joint pain
Hepwtosplenomegaly

Question 11

Bloods for stills disease

Answer 11

ANA and RF are negative

Raised inflammatory markers, platelets (thrombocytosis) and ferritin

Question 12

What type of JIA is silent uveitis seen in

Answer 12

Oligoarticular JIA

Question 13

Features of polyarticular JIA

Answer 13

Rheumatoid arthritis equivalent of adults

Symmetrical in small and large joints

More often seronegative

Question 14

Features of oligoarticular JIA

Answer 14

Oligoarticular JIA is often asymmetric, affecting the lower limb more

Less than 5 joints

Girls more common than boys

Silent uveitis occurs - must see ophthalmology once every 3 months

Question 15

Managment of JIA

Answer 15

MDT- rheumatologist, nurse specialist, physio, occupational therapy, camhs, ophthalmology

NSAIDS, DMSRD (methotrexate for st least 3 months, biological like anti tnf adalminub

Question 16

Specific mx of SJIA

Answer 16

NSAIDS
IV steroids if no improvement after 1 week

Question 17

Management of methotrexate and steroids in illness

Answer 17

Hold methotrexate, but must keep or increase steroids due to risk of addisonian crisis

Question 18

Presentation of macrophage activation syndrome or hemophagocytic lymphohistiocytodid (HLH)

Answer 18

Acutely unwell

Hepatosplenomegaly
Lymphadenopathy
Pancytopenia
DIC
HIGH ferritin and low ESR is key!

Needs specialist review - steroids and immunosuppressants

Question 19

Muscle features of dermstomyositis

Answer 19

Muscle pain and weakness
Occurs bilaterally and affects proximal joints- pelvic and shoulder girdle

Question 20

Bloods for dermatomyositis

Answer 20

Raised muscle enzymes - CK, LDH, AST and ALT

Question 21

Cutaneous features of dermatomyositis

Answer 21

Heliotropic rash on face
Gottron lesions on knuckles elbows and knees
Nailfold capillar
Rash on eyelids

Question 22

Dermatomyositis anti bodies

Answer 22

Anti jo 1
Anti mi 2
ANA

Question 23

Mx of dermatomyositis

Answer 23

IV methylprenisilone or oral prednisilome
Methotrexate
Sun protection and adequate vit d and calcium