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Spondyloarthropathies & FMF

Khaldoon Alawneh
Zaid Zreigat
10 / 12 / 2009

Spondyloarthropathies
Spondyloarthropathies as the name implies are diseases affecting primarily
the spine(vertebrae) . May affect other organs (the peripheral joints and other
organs ).
The famous Spondyloarthropathies is : Ankylosing Spondylitislike when you
say connective tissue disease the first that crosses your mind is SLE or when you
say arthritis the first thing that crosses your mind is Rheumatoid Arthritis.
Spondyloarthropathies share similar characteristics :

They affect the spine (Inflammatory axial spine involvement )

Asymmetrical peripheral arthritis while in Rheumatoid Arthritis and SLE

its symmetrical arthritis

Enthesopathy (Inflammation of the insertion of the tendons )

Inflammatory eye disease another common feature

Mucocutaneous features

Rheumatoid factor negative: this is used to differentiate between

Spondyloarthropathies and rheumatoid arthritis

High frequency of HLA B27 Antigen

Familial aggregation : all the rheumatic diseases have familial aggregation

Rheumatoid factor negative doesnt exclude rheumatoid arthritis,, and it was a

rare
case
of
rheumatoid
factor
positive
it
doesnt
role
out
Spondyloarthropathies but those were the common features.
One of our colleagues asked about Rheumatoid arthritis: Doesnt Rheumatoid
arthritis as a disease has spinal involvement ?
Rheumatoid arthritis typical affect the cervical vertebrae and mostly the upper
part of the cervical spine, while in Spondyloarthropathies, there is a progressive
involvement of the spine besides the primary disease is within the spine.
Spondyloarthropathies include: Ankylosing Spondylitis, Psoriatic Arthritis,
Reactive Arthritis, Reiters syndrome(Which is a form of reactive arthritis ),
Enteropathic Arthritis (associated with Ulcerative colitis and Crohns) , Juvenile
Ankylosing Spondylitis.
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HLA B27 Association :

The highest association is with

Ankylosing Spondylitis.this figure
gives you a idea about HLA
association.. as you can see
Reactive Arthritis has a high
association with less association in
the case of Inflammatory Bowel
Disease

Ankylosing Spondylitis : characteristics of Back Pain

Its a disease of young agemost people present before the age of 40 ,
therefore the criteria of Ankylosing Spondylitis is that the onset of the
disease happens before the age of 40, gradual onset, duration is longer than
3 months , associated with morning stiffness, decrease with exercise (
inflammatory back pain)
There are two types of back pain : Inflammatory and mechanical
In the inflammatory type the pain improve with exercise like in the case of
Ankylosing Spondylitis.in the mechanical type the pain worsen with exercise like
Disk disease
So in osteoarthritis the pain improves at rest and worsen on activitywhile in
inflammatory arthritis like Ankylosing Spondylitis the pain improves with
exercise..the patient wakes up stiff (one piece) in the morning, with time 1-2
hour the patient gets better with activity, if he/she rests again in the afternoon
the patient become stiff again!
A Colleague asked about Lambert-Eaton Syndrome concerning pain relief after
exercise.
Lambert-Eaton syndrome to differentiate it from Myasthenia Graves :
Both are muscle diseases ( explained in previous lectures)..in Lambert-Eaton
Syndrome the patient improves with exercise while in Myasthenia Graves the
patients condition worsen with exercise that they need rest or sleep to improve.
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New York criteria for diagnosis of Ankylosing Spondylitis :

1. limited lumber motion
2. Lower back pain for three months, improve with exercise, not relieved by
rest
3.

Reduced chest expansion

4.

bilateral ,grade 2 to 4, sacroiliitis on x-ray

5.

unilateral ,grade 3to 4, sacroiliitis on x-ray

The important thing to know is with Ankylosing Spondylitis the age group is young
age group with inflammatory back pain with 3 months duration, reduced chest
expansion ,with sacroiliitis on x-ray the grading ( grade 2-4 bilateral/3-4
unilateral ) isnt that important to us.

In this figure we can see a typical case of Ankylosing

Spondylitisspine became one piece !! and the neck is
affected.
Usually in Ankylosing Spondylitis clinically starts in
the lower region of the back then goes upward until the
patients back becomes one piecewhen the patient
tries to flex his back it moves like its one piece.. when
we want to flex our backs we use our spine with a little
help from the hipsthis patient can use his hips only
to bend his back as u can see in the picture he cant
bend without the hips!!

In this figure we can c a patient with Ankylosing Spondylitis and the

progression of the disease(from left to right) in the second picture we can se
that he began to show signs and then it got worse that his back became one
piece (the 3rd picture) and then he even lost the usage of his hips and his hips
also became fixed (the 4th picture) and then he got better due to hip
replacement his body became straight again. So as we can see in Ankylosing
Spondylitis after the spine eventually the joints become affected and the
common sites the large joint (hip joint in this case) .

Spondyloarthropathies : Nonvertebral Symptoms

1. Asymmetrical Peripheral Arthritis
2. Arthritis of the Toe Interphalangeal joints
3. Sausage Digits : in Rheumatoid arthritis the inflammation is limited to the
joint.but in Ankylosing Spondylitis the inflammation is not restricted to
the joint only it affects the ligaments around the joint...and the whole digit
becomes bigger like a Sausage because the whole digit is inflamed.
4. Achilles Tenosynovitis: is the inflammation of the fluid-filled sheath (called
the synovium) that surrounds Achilles tendon.
5. Plantar Facsiitis : inflammation of the Plantar Fascia associated with pain.
6. Costochondritis*: eventually the costochondrial joints (articulations
between the ribs and the costal cartilage) they become fused and there will be
no chest expansion
*Costochondritis : inflammation of one or more costal cartilages, characterized by local
tenderness and pain of the anterior chest wall that may radiate, but without the local
swelling typical of Tietze syndrome.
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7. Iritis : which is uveitis (inflammation of the uveal tract: iris, ciliary body, and choroid)
8. Mucocutaneous Leasions
Recurrent Iritis caused Synechiae(adhesions
between the lens and iris : in this figure we see
recurrent uveitis with irregular pupil. typically
anterior uveitis happen in Ankylosing Spondylitis
while in Bechets disease the most common is
posterior uveitis which is very badso here we
see anterior uveitis with conjunctivitis and the
pupil becomes irregular because of the posterior
adhesions

Early Sacroiliitis : here the sacroiliac

joint is inflamed eventually this joint will
disappear but early there will be sclerosis
then there will be irregularity the join will
disappear

Advanced Sacroiliitis ,Fused Sacroiliac

joints: here we cant detect any joint its
completely fused even the vertebrae looks
fused too

Syndesmophytes(an outgrowth of bone

attached to a ligament),
apophyseal(outgrowth of bone) joint
fusion,disc peripheral
ossification(Ankylosing Spondylitis):
Here we can see calcification of the
ligament due to chronic
inflammationeventually the whole spine
becomes calcified
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Ankylosing Spondylitis.
Left:squaring of vertebra,
Right:anteriorlongitudinal ligament
calcification : we can see

calcification around the discs (left)

and calcification around the
anterior longitudinal ligament
(right)
Ankylosing Spondylitis :Bamboo spine
,ossification follow the contour of
intervertebral discs : here we see that the

disease is more advanced we cant

differentiate between the vertebraethere
are calcifications around the lateral ligaments
and around the posterior and anterior
ligamentsso calcification all around the
vertebrae eventually theyll have a square
shape and they call it bamboo spine

Ankylosing Spondylitis:calcaneal (related to

calcaneus bone) spur(a spine or projection
from a bone) and erosion: we said that

plantar fasciitis is one of the symptoms we

can see inflammation of the plantar fascia
its associated with pain. Also the Achilles
tendon could be damaged we can see a
calcaneal spur(( )notice the arrow)part
of plantar fasciitis is the projection of the
spur but this is not the problem, the
problem is that theres an inflammation in
the whole fascia.. Sergeants in the past
used to remove this spur but the result
wasnt as good as expected

Apical fibrosis in Ankylosing

Spondylitis : Lung fibrosis could

occur in Ankylosing Spondylitis

Reiters Syndrome : like we said before its a form of reactive arthritis

There are some similarities between Reiters
Syndrome and Ankylosing Spondylitis.but there
are some special criteria for Reiters Syndrome..
Patients are presented with Urethritis or
Cervicitis associated with gonorrhea or with
other diseases that can activate reactive
arthritis or Reiters Syndrome like Chlamydia or
gonorrhea like we saidother criteria is
Infectious Diarrhea: typical Reiter was
infectious Diarrhea not renal tract infection.
Reiters Syndrome is associated with :

1. Inflammatory Eye Disease ( like in Ankylosing Spondylitis )

2. Balanitis (inflammation of the glans penis or the clotiris ) .Oral Ulceration
or keratoderma
3. Enthesopathy
4. Sacroiliitis

Like in Ankylosing Spondylitis

So there are some similarities but the skin lesions

different

in Reiters Syndrome

As we said the infectious bacteria that causes

urinary tract infection in Reiters Syndrome
mainly gonorrhea and on top of that another
Urogenital infection could take place like
Chlamydia trachomatis and Ureaplasma in the
gastrointestinal tract Yersinia, Salmonella
,Shigella and Campylobacter can trigger
reactive arthritis the same in the case of
Chlamydia Pneumoniae in the respiratory tract
infections .

Reiter's heel tendonitis: here we can see

swelling of the Achilles Tendon insertion.. This
swelling can be seen clinically as an
evidencethis swelling happens to be tender, a
severe inflammation in the insertion occur that
leads to rupture of the Achilles Tendon

Reiter's pustules (a small, circumscribed elevation of

the skin, containing purulent material.) : this rash is

common and its a classical rash for Reiters

Syndrome

Then the doctor told a story about a patient he treated : a female in her
thirties she complained of Fever, Back Pain and Skin rash like the previous one..
Doctors thought that this is Urosepsis a pseudomonas infection but the urine
culture always came back negative with high WBC count because of the
Urethritis , they gave her antibiotics and NSAIDs and she improved because if
she got infection in the urinary tract itll improve with antibiotics and the
NSAIDs that happened several timeswhen she came to Dr. Alawneh they took
an x-ray and it showed bilateral sacroiliitis and extensive changes in her
spine..not even one time she had a documentation of her having an infection and
the rash that the doctors thought that it was a Urosepsis and an infection was
indeed a part of the disease she had ( Reactive Arthritis ) the doctor gave her
immunosuppressant and she did well and still doing well for 3 years now =)
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Reiter's
Keratoderma
blenorrhagica:

Reiter's:Pustules+
Keratoderma
blenorrhagica :

This is another rash

that comes with
Reiters

This is a more
aggressive rash

Reiter's tongue lesion:

Like in Bechets and SLE oral

ulcers happen in Reiters
Syndrome

Reiter's Balanitis circinata:

This genital rash is different
from the genital rash in
Bechets disease which is more
on the scrotum

Reiter's palate erosion:

This is a more extensive oral ulcer that involves

the palateif u had a patient with these kind of
ulcers and back pain think about Reactive
arthritis

Reiter's syndrome conjunctivitis:

Heres one of the eye manifestation in Reiters like in

Ankylosing Spondylitisbut the difference between
Reiters and Ankylosing Spondylitis is that in Reiters
its more conjunctivitis than anterior Uveitis but
Reiters can cause Anterior Uveitis..also Bechets and
Rehumatoid arthritis can cause these manifestations
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Nail dystrophy seen in Reiter's and

psoriasis:
Psoriasis is one of the Spondyloarthropathies
So you can see nail abnormalities in Reiters
and in Psoriasis

Asymmetrical Sacroiliitis(more common in

Reiter's ):
As you can see in Reiters patients have
Sacroiliitis like in Ankylosing Spondylitis but
in Reactive Arthritis its more a symmetrical
one side is more affected than the other or
unilateral on the contrary in Ankylosing
Spondylitis its a more aggressive disease
and the Sacroiliitis is bilateral

Plantar periostitis seen in Reiter's(also seen

in Rheumatoid Arthritis Ankylosing Spondylitis
, and Psoriasis) :

Here the calcaneal spur is more obvious than its

in the previous one . Notice in Rheumatoid
Arthritis theres arthritis but without any bone
reaction on the contrary in
Spondyloarthropathies there will be an extensive
bone reaction on the periosteum so well see
inflammation of the periosteum.

The summery of this slide is that Psoriatic

Arthritis can mimic other arthritis including
Rheumatoid Arthritis.. sometimes patients may
present with symmetrical arthritis like in
Rheumatoid Arthritis without any rash (its
delayed) 2-3 months/year after presentation
patients get the rash so these patients may be
diagnosed as Rheumatoid Arthritis patients then
the diagnosis is changed after the rash appear!!
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Other Clinical Characteristics of Psoriatic Arthritis :

1. No rheumatoid nodules
2. Rheumatoid Factor (RF) Negative although patients may present with signs
and Symptoms like in Rheumatoid Arthritis.
3. Inflammatory Arthritis in Distal InterPhalangeal joints : the patient may come
only with this complication like in Gout
4. Asymmetrical Arthritis : arthritis in one side or in one side more than the
other
5. Spondylitis Sacroiliitis often asymptomatic
6. Arthritis Mutilans : severe extensive arthritis with destruction (characterized
by resorption of bones and the consequent collapse of soft tissue. When this affects
the hands, it can cause a phenomenon sometimes referred to as "telescoping fingers.")

7. sausage digits
8. nail pitting or onycholysis (loosening of the nails, beginning at the free border, and usually
incomplete)

9. syndesmophytes (an osseous excrescence attached to a ligament.)

10. paravertebral ossification
11. Enthesopathy
Most of these characteristics are characteristics of Spondyloarthropathies
Patterns of Arthritis in Psoriasis :
1. Spondylitis : Sacrloiliitis with progression to the spine
2. Distal Interphalangeal Joint Arthritis
3. Oligoarticular Asymmetrical Arthritis
4. Polyarticular(involving many joints) Symmetrical Arthritis : like in
Rheumatoid Arthritis
5. Arthritis Mutilans : as we said before its very sever destruction and the
bone of the Joint completely disappear
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Psoriatic arthritis ,rash, nail dystrophy,

sausage digit : notice the diffuse swelling in
the phalanges not localized swelling like in
Rheumatoid arthritisyou can see nail
dystrophy, Distal Interphalangeeal joints
affected and rash so this is psoriasis

Psoriatic arthritis:rash,nail dystrophy,and

arthritis :
Here you can see that the Distal
Interphalangeal(DIP) joints is affected and
skin changes so this is Psoriasis

Psoriatic arthritis affecting DIPs , PIPs

,sausage digit, no rash :
This is a more severe presentationnotice the
shortening of the fingers because the bone is
destroyed (resorbed) so when an x-ray is taken
there will be no bone . Psoriasis can cause Swan
Neck fingers like in Rheumatoid Arthritis

Psoriasis nail dystrophy and arthritis:

This a closer image showing nail dystrophy

(progressive changes that may result from defective
nutrition of a tissue or organ) and arthritis. So
whats important in psoriasis is nail and/or skin
changes + Arthritis and on top of that Distal
Interpharangeal joints are affected +
sacroiliitis which are not included in the case of
Rheumatoid Arthritis

Psoriasis nail pitting :

Theres no pitting in normal nails everybody
should check his/her nails for pitting ,the
doctor said!! Because Psoriasis isnt an
uncommon disease 2% of people suffer from
Psoriasis
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Dactylitis ( inflammation of one or more fingers)

in psoriatic arthritis :
Here the whole digit is inflamed this doesnt
happen in Rheumatoid Arthritis other causes
of dactylitis: like in babies for example one
year old baby with dactylitis can be caused by
an infection, TB can cause Dactylitis

Psoriatic arthritis : soft tissue swelling,joint

destruction,erosions
DIPs,PIPs,MCPs(metacarpopharangeal) :
This is an x-ray for a patient with psoriatic
arthritis we can see that the bone disappeared
due to severe destruction..and we can see the
over reaction of the bone due to severe
periosteal reaction while in Rheumatoid
Arthritis theres no reaction the patient x-ray
shows osteopenia

Progressive joint changes in Psoriatic

Arthritis(pencil in cup):

Here we can see the DIPs are affected, like

we said before in Rheumatoid Arthritis DIPs
arent affected, with time and progression
of the disease the joints look like a pencil in
a cup as u see in C )(

Psoriatic arthritis severe changes in

DIPs,less in PIPs and minimal in MTPs :

Here again we an see that Distal

Interphalangeal joints are affected the
most in psoriasis to a less extent Proximal
Interphlangeal joints with minimal
changes in the Metacarpophrangeal joints

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Treatment Of Psoriatic Arthritis :

We wont go into details of the treatment of Psoriatic Arthritis, its very similar
to the treatment of Rheumatoid Arthritis ,
The main drug for treatment is Methotrexate which is beneficial to the skin
and joints (used to treat Ankylosing Spondylitis also )
Anti TNF Drugs like infliximab , etanercept and adalimumab that block the Tissue
Necrosis Factor, they are useful both in the psoriatic skin changes and psoriatic
Arthritis also they are affective in the Treatment of Ankylosing Spondylitis

Prevent eye complications by early recognition and treatment

Treat symptoms with NSAIDs
Physical therapy, stretching and exercises to preserve spine and joints
function
Maintain good posture

Be aware of association between Spondyloarhtropathies and other diseases

Inflammatory bowel disease
Aortitis, aortic regurgitation(in ankylosing spondylitis 1%)
Inflammatory eye disease
Pulmonary fibrosis in ankylosing spondylitis 1%

Severe reactive arthritis and HIV :there is a Severe reactive Arthritis in the
HIV

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FMF( Familial Mediterranean Fever)

This disease is important in our area, its rare in other parts of the world.
Back in the days the patients presented to the hospital with abdominal pain
,one of the manifestations of this disease, fever and the WBCs count elevated.
These patients go to the surgeon who suspects Appendicitis or Cholecystitis
then he/she removes the appendix the first time, the problem is still there, the
next time the gall bladder will be removed. The third time the patients came
with intestinal obstructions due to surgical adhesions so they go under
laparotomy (a surgical procedure involving an incision through the abdominal
wall to gain access into the abdominal cavity). Because back then there was no
CT scan, so the surgeon to protect himself and the patient had to open the
patient up, nowadays CT scan is available and we can do laproscopy to diagnose
the disease
SO FMF :
Is an Autosomal recessive disease
Characterized by attacks of Serositis (refers to inflammation of the serous
tissues of the body, the tissues lining the lungs (pleura), heart (pericardium),
and the inner lining of the abdomen (peritoneum) and organs within) and fever
patients come with abdominal pain /chest pain or joint pain , and rarely with
pericarditis
Attacks are acute and sudden last from 6-96 hours
First attack before age 20 in 90% of the cases

Clinical Characteristics :
Abdominal pain in 95% mostly as acute abdomen and peritonitis but some times
mild
Mono arthritis with effusion in 75%, mostly knees, ankles or wrists.
Chest pain/ pleuritis (unilateral)30%
Pericarditis rare 1%
Above symptoms with fever or may be fever alone
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So the WBCs Count and ESR during the attack will be elevated ( inflammatory
process without infection )so all the acute phase proteins are elevated and the
patients present like peritonitis and the patient will jump if you touch her/his
abdomen..the good physician is the one who takes good history and knows
about any previous attacks, takes family history because like we said its an
autosomal recessive disease other member maybe affected
Genetics of FMF :
Gene responsible has been located in short arm of chromosome 16
MEFV gene encodes protein (pyrin, marenostrin)
Pyrin gene mostly in cytoplasm of neutrophils or monocytes /regulate
inflammation
There was 28 mutation now theirs is more than 50 mutations, some people are
presented with no mutations, the have the original disease without any
mutation we know , most common mutations M694V and V726A
M694V associated with more severe disease and higher risk of amyloidosis (any
chronic inflammation can trigger amyloidosis and eventually renal failure )
some patients of FMF without treatment are on dialysis now

This is chromosome 16 with the most common mutations. Notice that the
M694V mutation we talked about thats associated with amyloidosis is present
on location 10 on Chromosome 16

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 This chart shows the typical presentation of FMF patients they have fever
which decreases with time, abdominal pain, vomiting, and constipation typical
peritonitis like picture

Treatment :
Colchicine ,whish is a very good drug for treatment of FMF , is used to abort the
attack ( abort the attack in 60% of the cases and it modifies 20-30% of the
cases ) but sometimes Colchicine is not enough to abort the attack so we use
NSAIDs with it, in a matter of fact NSAIDs are better in aborting the attack
but Colchicine is good to prevent the attacks and to prevent Amyloidosis
THE END
Done By : Zaid Zreigat
First of all Im very sorry for being sooo laaatee, I hope It didnt affect anyones
studying
A7la salam la group il ba6ini group A 2o akeed ba5os bil thikir group A10.. my group :
7amzeh Rsheidat, Mo3taz Mwafi, Ra2ed Abu 5ai6, 3omar Borini, m7amad 86ai6,
3aith 3a6eyeh , Muhanad 3beidat , Ma2moon Hdaib , Waleed abu Sale7, Jad
3abd il Sattar 2o akeed sabaya A 10 =p Noor 2o Tamam 2o Rand 2o Amani 2o
3abeer 2o Ala2
2o a7la ta7yeh la 7usam haddad , Ra3ed 6ahat ( asef jiddan sa3adet il na2eb =p)
,Anas Wardat,M7amad kleib, Ayham ba6ayneh, Rasheed Janaydeh, 3abdallah Bani
Fares , Firas 63ani,Areej Hassan
A2saf itha nseet 7ada 2o ana asef marra thanyeh 3ala il ta25eer
GOOD LUCK FOR ALL IN THE OSCE =)

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