Approach to patient with musculoskeletal disease - Kutatósemmelweis.hu/belgyogyaszat2/files/2017/11/20171128_EN_III_IM... · Approach to patient with musculoskeletal disease . ...

Györgyi Műzes

Semmelweis University, 2nd Dept. of Medicine

Approach to patient with

musculoskeletal disease

Musculoskeletal disorders

common problems affecting (mainly) the elderly

with age, musculoskeletal tissues show

increased bone fragility

loss of cartilage resilience

reduced ligament elasticity

loss of muscular strength

fat redistribution

decreasing the ability of the tissues to provide

their normal functions

MSDs: assessment

health history

chief complaints

onset of problems

precipitating events, e.g., trauma

MSDs: assessment

pain (recurrent – constant)

location

duration

radiation

character (sharp/ dull)

swelling

stiffness

aggravating, or alleviating factors

fever, fatigue, weight changes, rash

MSDs: diagnostic tests

blood tests

X-rays

bone density

ultrasound

CT

MRI

bone scan

arthrocentesis

Osteoarthritis

Definition – degenerative joint process

arising from the biochemical breakdown of articular (hyaline) cartilage in the synovial joints;

characterized by focal loss of cartilage, new bone formation (spurring)

Consequences: subsequent pain + loss of function

Most common type of joint diseases

> half of affected individuals are > 55 ys with

radiographic evidence (up to 90% at age > 70 !)

Female predominance (3:1)

OA: risk factors Age, Gender, Obesity ,Trauma

Genetics (significant family history)

Reduced levels of sex hormones

Muscle weakness

Repetitive use (ie, heavy jobs)

Infection

Crystal deposition

Previous inflammatory arthritis (eg, burn-out RA)

Endocrine abnormalities (eg, acromegaly)

Heritable metabolic causes (eg, alkaptonuria, hemochromatosis, Wilson disease)

Hemoglobinopathies (eg, sickle cell disease, thalassemia)

Neuropathic disorders leading to a Charcot join

(eg, syringomyelia, tabes dorsalis, and diabetes)

OA: stages

Stage 1 – Proteolytic breakdown of the cartilage matrix

Stage 2 – Fibrillation and erosion of the cartilage

surface, with subsequent release of proteoglycan and

collagen fragments into the synovial fluid

Stage 3 – Breakdown products of cartilage induce a

chronic inflammatory response in the synovium, which

contributes to further cartilage breakdown

OA

predominantly involves the weight-bearing joints

involves not only the articular cartilage but also the

entire joint organ, including the subchondral bone and synovium

caused largely by excessive wear and tear, with

dominant contributions of abnormal mechanics and inflammation

OA: symtomps

deep, achy joint pain (primary symptom !)

exacerbated by extensive use

decreased with rest

progression with aging

reduced range of motion

crepitus (cracking or grinding noise with joint

movement)

bony swelling (effusion)

stiffness during rest (may develop with morning joint

stiffness usually lasting for < 30 min)

joint deformity

History: gradual onset of symptoms

lack of inflammation

sometimes history of prior injury or other

secondary triggers

Physical exam: crepitus, hypertrophic changes, lack of erythema or warmth, usually no much tenderness

X-ray: asymmetric joint space narrowing, sclerosis near to the joint line, and spurring

OA: diagnosis

OA:

affected joints

very common

with obesity !

bilateral disease manifestation

OA: hip and knee

Heberden’s nodes – DIP-joint (bony nodules)

Bouchard’s nodes – PIP-joint (bony nodules)

Both “nodes” (= palpable osteophytes): diagnostic

for hand OA

(10x more common in women than men, with a strong

genetic component)

Base of thumb (1st CMC joint): comonly affected, more likely due to wear-and-tear than nodes

OA: hands

Square thumb

Shoulder

rare in age 40- 50, but becomes very common in

7th and 8th decades

rotator cuff symptoms (accompanying)

Feet

1st MTP is commonly affected

(“bunion” deformity)

OA: shoulder and feet

(unless injury / secondary causes):

MCPs

wrist

elbow

ankle

above localisations: think on inflammation !

OA: joints typically not affected

Rheumatoid arthritis: seropositive

symmetric inflammatory joint condition characterized by pannus formation, joint erosion, and chronic systemic inflammation

systemic autoimmune disease

common inflammatory arthritis, 1-3 % of the population, 2-3:1 female to male ratio, peak incidence between ages 40 to 60

persistent symmetric polyarthritis (synovitis) of

hands and feet

progressive articular deterioration

extraarticular involvement

difficulty performing activities of daily living

constitutional symptoms (fatigue, weight loss)

RA: signs and symptoms

RA: joints

stiffness

tenderness

pain on motion

swelling

deformity

limitation of motion

RA: patterns of onset

Insidious 55%-65% Joint stiffness, swelling,

pain, fatigue

Acute 8%-15% Fever, weight loss, fatigue,

joint abnormalities present

but often not prominent

Intermediate 15%-20% Systemic complaints more

noticeable than insidious onset

Rheumatoid factor (RF)

antibody against the Fc fragment of Ig

not specific

~ 80% of RA patients

RF+ patients:

more severe disease

extraarticular manifestations

Anti-cyclic citrullinated peptide

(anti-CCP)

- specificity: 90%

- sensitivity: 50-80%

RA: subsets based on ACPA

RA: classification criteria, ACR 1987

2010

RA - pannus

periarticular osteopenia

symmetric joint space

narrowing/ loss

marginal erosions

Atlantoaxial instability

Popliteal cyst

RA: extraarticular features

rheumatoid nodules (15%)

central necrosis surrounded by palisading fibroblasts and lymphocytes

subcutaneous, bursal, tendon sheaths

extensor surfaces / pressure points

forearms

Achilles

ischial area

MTP’s

flexor surface of fingers

RA: affected

organs

RA: extraarticular manifestations

pulmonary

pleural effusions

interstitial lung disease

nodules

cardiac

pericarditis

myocarditis

atherosclerosis – 3x increased risk of CAD

renal: interstitial nephritis

RA: fibrosis RA: rheumatoid nodules

RA: extraarticular manifestations

Vasculitis

leukocytoclastic vasculitis

palpable purpura

vasculitic lesions on fingers

mononeuritis multiplex

visceral involvement

RA: hematologic

anemia of chronic disease

low Fe, low/N TIBC, ferritin: high

Felty’s syndrome

triad

RA

splenomegaly

neutropenia

frequent infections / leg ulcers

iron deficiency anemia (sec. to NSAIDs !)

We, CRP: high

Spondyloarthropathies

Group of inflammatory conditions affecting the axial skeleton (spine, pelvis), and also demonstrating asymmetric migratory oligoarthritis

Types:

Ankylosing spondylitis

Reactive / postinfectious arthritis

Arthritis associated with inflammatory bowel disease (IBD)

Psoriatic spondyloarthritis

Undifferentiated spondyloarthopathy

Juvenile enthesitis-related arthropathy

Spondylarthropathies: common

features

familial clustering

association with HLA-B27

axial joint involvement

sacroiliitis with / without spondylitis

asymmetrical peripheral joint involvement

enthesitis (inflammation of tendon insertions to bone)

dactylitis

extraarticular signs

negative rheumatoid factor

Spondylarthropathies:

leading symptoms

insidious onset of low back pain, that

worses in the morning or with inactivity

improvement of symptoms with exercise

stiffness of the spine and kyphosis

peripheral enthesitis and arthritis

constitutional and organ-specific extra-articular

manifestations

Radiography

bony erosions and osteitis (“whiskering”)

squaring of the vertebral bodies

syndesmophytes

bridging syndesmophytes

bamboo spine

sacroiliitis

Imaging

Magnetic resonance imaging (MRI)

demonstrates early stages of sacroiliitis

Computed tomography (CT)

for the detection of bone changes, such as

erosions, and ankylosis, CT can be superior

to MRI imaging

Bamboo spine

Lumbar flexion (Schober)

A mark is placed between the anterior and posterior iliac spines,

a further mark 10 cm above, the patient bends forward as far as

possible, the difference is recorded

Result: 0.5 cm (normal > 4 cm)

Tragus to wall distance

Patient stands, heels and buttocks against the wall, the head

is placed back as far as possible, keeping the chin horizontal

Ankylosing spondylitis:

extraskeletal manifestations

Eye: iritis

Cardiac

conduction disturbances

aortic valve insuff.

Pulmonary

fibrosis

Neurologic

spinal fracture, instability, compression, or inflam.

atlantoaxial subluxation

myelopathy ; Cauda equina syndrome

Renal: IgA nephropathy; microscopic hematuria

Reactive arthritis

classic triad: urethritis, arthritis, conjunctivitis

occurs 2-4 weeks after the infection

responsible organisms have an affinity for mucous membranes

secondary immune reaction, in susceptible individuals, to primary infective agents: Yersinia

Campylobacter

Shigella

Salmonella

Chlamydia

Ureaplasma

Myopathies

definition

neuromuscular disorders in which the

primary symptom is muscle weakness due to

dysfunction of muscle fiber *

* by the National Institute of Neurological Disorders and Stroke

Neuromuscular disorders

plexopathies

mononeuropathies

polyneuropathies

radiculopathies

motoneuron diseases

disorders of the neuromuscular junction

myopathies

Patient with a suspected myopathy

Main goals:

to determine the exact site/s of the lesion

to determine the cause of myopathy

to determine what kind of specific treatment is available

Myopathy: symptoms

weakness

fatigue

excercise intolerance

myalgia

muscle cramps

muscle atrophy

contractures

muscle weakness

proximal > distal muscles

fatigue

difficulty rising from a chair

difficulty with stairs

difficulty with overhead tasks

respiratory muscles !

bulbar weakness - speech, swallowing

oculomotor, facial

pain

mostly with inflammatory and metabolic origin

high serum CK

aching, dull, cramping

patients often say: like “sore”, “ache”, “spasm”

no numbness or paresthesias !

myalgia

• episodic (metabolic myopathies)

• constant (inflammatory muscle disorders)

• more likely to be due to orthopedic or

rheumatological disorders

Myopathic disorders

inflammatory myopathies

polymyositis

dermatomyositis

inclusion body myositis

viral

muscular dystrophies

X-linked

limb-girdle(ar/d)

congenital

fasioscapulohumeral (ad)

scapuloperoneal (ad)

distal (Welander) (ad/r)

myotonic syndromes

myotonic dystrophy (ad)

inherited

Schwarz-Jampel

congenital myopathies

central core disease

nemaline myopathy

myotubular

fiber-type disproportion

metabolic myopathies

glycogenoses

mitochondrial

periodic paralysis

endocrine myopathies

thyroid

parathyroid

adrenal / steroid

pituitary

drug-induced / toxic

Diagnosis of myopathy

Serum enzymes

- ALT, AST, LDH, aldolase : found in skeletal muscles & liver

- CK (CK-MM): preferred enzyme / isoenzyme

Electrodiagnostic studies

- ENG: repetitive nerve stimulation : neuropathies

- EMG: myopathies

myopathic EMG: low amplitude, short duration, polyphasic MUPs

inflammatory myopathies: increased spontaneous activity,

irritability

Inflammatory myopathy

DNA analysis

- for definite diagnosis of certain muscle disorders

associated with gene defects (deletions or mutations)

Muscle biopsy

- safe ! (for final diagnosis of a suspected myopathy)

- different techniques of microscopic evaluation !

- site: muscle selected w/ mild to moderate weakness

common muscles used for biopsy

proximal – biceps, triceps, quadriceps

distal – extensor carpi radialis, anterior tibialis

Endocrine disorders

Hypothyroidism

*muscle weakness with muscle

cramps, pain & stiffness in 1/3

*prolonged relaxation phase of

muscle stretch reflexes

*CK: usually >10x

*biopsy: normal

Hyperthyroidism

*proximal weakness with atrophy

*sometimes bulbar, respiratory,

esophageal muscle involvement:

dysphagia, dysphonia,

aspiration

*muscle stretch reflexes are

often brisk

*CK: usually normal

*biopsy : atrophy of fibers

Hyperparathyoidism

-proximal muscle weakness,

muscle wasting, brisk stretch

reflexes

-CK : usually N

-biopsy : varying degrees of

atrophy

Hypoparathyoidism

-hypoCa resulting in sustained

tetany & muscle damage

-hypo- or areflexia

-CK : slight increase

Diabetes mellitus

-myopathy is uncommon

-rarely ischemic infarction of the

thigh muscles

-abrupt onset of pain,

tenderness

-hard & indurated area on

palpation

-biopsy: focal abnormality in

muscles

Vitamin deficiency

-myopathy is rare

-proximal muscle weakness

-vit. D / E deficiency

Cushing’s disease

- steroid excess: various degrees of muscle weakness

- proximal limb muscle weakness

- striking muscle atrophy

- cushingoid appearance

- CK: usually normal

- biopsy : atrophy of fibers

Acromegaly

- mild proximal muscle weakness without muscle atrophy

Adrenal insufficiency

- mild weakness with prominent fatigue

Conn’s syndrome

- due to persistent hypokalemia

- persistent muscle weakness

- muscle wasting if long standing

- CK : may be elevated

- biopsy : degenerating fibers

Toxic myopathies

drugs: statins, clofibrate

corticosteroids – steroid myopathy

alcohol

heroin

Direct toxicity : common !

muscle breakdown, rhabdomyolysis & myoglobinuria may

occur

(e.g. lipid-lowering drugs, glucocorticoids)

Drug induced autoimmune myopathy

e.g. D-penicillamine : features similar to polymyositis

Lipid-lowering agents

proximal weakness, myalgia, malaise, muscle tenderness

(rhabdomyolysis & myoglobinuria)

CK: elevated; EMG : myopathic; biopsy : myocyte necrosis

cessation of drugs !

Idiopathic inflammatory myopathies

I. polymyositis (PM)

II. dermatomyositis (DM) = PM + skin

III. paraneopl. myositis

IV. childhood polymyositis

V. myositis w/ systemic autoimmune diseases

VI. other forms (inclusion body, eosinophilic)

PM/DM: characteristics

Symmetrical, proximal muscle weakness (insidious onset)

Muscles usually painless (myalgias: 30%)

Dysphagia (30%),aspiration: pharyngeal and esophageal muscles

Arthralgias

Difficulty kneeling, climbing or descending stairs,

stepping onto a curb, raising arms, lifting objects,

combing hair, and arising from a seated position

Weak neck extensors: difficulty holding the head up

Involvement of pelvic girdle > upper body weakness

Cardiac involvement: pericarditis or cardiomyopathy

Characteristic rash of face, trunk, and hands seen in DM

PM/DM

normal PM

Osteoporosis

Definition: metabolic bone disease

Low bone mass and microarchitectural disruption

causing weakening of bone which predisposes to

fractures

OP: risk factors

Age (increasing)

Low BMI

Ethnicity: Caucasian > Asian/Latino > African American

Family history of fracture

OP: characteristics

generally patients are asymptomatic even with

low bone densities

hip / vertebral fractures

loss of height

acute or chronic back pain secondary to

vertebral fractures

atraumatic or low impact fractures

101

Pathogenesis of osteoporotic fracture

DEXA scan (dual energy x-ray

absorptiometry): for BMD

standard deviation of normal young subjects (T-score) and

age-matched (Z-score)

Thank you !