Spondyloarthropathies & FMF+

8/18/2019 Spondyloarthropathies & FMF+

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Spondyloarthropathies & FMF

Khaldoon Alawneh

Zaid Zreigat

10 / 12 / 2009


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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 Spondylitis…like when yousay 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

it’s 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 doesn’t exclude rheumatoid arthritis,, and it was a

rare case of rheumatoid factor positive it doesn’t role out

Spondyloarthropathies… but those were the common features.

One of our colleagues asked about Rheumatoid arthritis: Doesn’t 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, Reiter’s syndrome(Which is a form of reactive arthritis ),Enteropathic Arthritis (associated with Ulcerative colitis and Crohn’s) , Juvenile

Ankylosing Spondylitis.


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HLA B27 Association :

Ankylosing Spondylitis : characteristics of Back Pain

It’s a disease of young age…most 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 activity…while in

inflammatory arthritis like Ankylosing Spondylitis the pain improves withexercise..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-EatonSyndrome the patient improves with exercise while in Myasthenia Graves the

patient’s condition worsen with exercise that they need rest or sleep to improve.

The highest association is with

Ankylosing Spondylitis….this figuregives 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


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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 chestexpansion ,with sacroiliitis on x-ray the grading ( grade 2-4 bilateral/3-4

unilateral ) isn’t that important to us.

In this figure we can see a typical case of AnkylosingS pondylitis…spine became one piece !! and the neck is

affected.

Usually in Ankylosing Spondylitis clinically starts inthe lower region of the back then goes upward until the

patient’s back becomes “one piece”…when the patient

tries to flex his back it moves like it’s one piece.. when

we want to flex our backs we use our spine with a little

help from the hips…this patient can use his hips only

to bend his back as u can see in the picture… he can’t bend without the hips!!


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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 4

th

picture) and then he got better due to hipreplacement 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 localtenderness and pain of the anterior chest wall that may radiate, but without the local

swelling typical of Tietze syndrome.

http://en.wikipedia.org/wiki/Inflammationhttp://en.wikipedia.org/wiki/Fluidhttp://en.wikipedia.org/wiki/Synoviumhttp://en.wikipedia.org/wiki/Tendonhttp://en.wikipedia.org/wiki/Tendonhttp://en.wikipedia.org/wiki/Synoviumhttp://en.wikipedia.org/wiki/Fluidhttp://en.wikipedia.org/wiki/Inflammation


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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 seerecurrent uveitis with irregular pupil…. typically

anterior uveitis happen in Ankylosing Spondylitis

while in Bechet’s disease the most common is

posterior uveitis which is very bad…so 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 it’s

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 chronicinflammation…eventually 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

Ankylosing Spondylitis :Bamboo spine

,ossification follow the contour of

intervertebral discs : here we see that the

disease is more advanced we can’t

differentiate between the vertebrae…thereare calcifications around the lateral ligaments

and around the posterior and anterior

ligaments…so calcification all around the

vertebrae eventually they’ll 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

it’s associated with pain. Also the Achilles

tendon could be damaged… we can see a

calcaneal spur(ر س) (notice the arrow)partof plantar fasciitis is the projection of the

spur but this is not the problem, the

problem is that there’s an inflammation in

the whole fascia.. Sergeants in the past

used to remove this spur but the result

wasn’t as good as expected


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Reiter’s Syndrome : like we said before it’s a form of reactive arthritis

Reiter’s 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

So there are some similarities but the skin lesions in Reiter’s Syndrome

different

Apical fibrosis in Ankylosing

Spondylitis : Lung fibrosis could

occur in Ankylosing Spondylitis

There are some similarities between Reiter’s

Syndrome and Ankylosing Spondylitis….but thereare some special criteria for Reiter’s Syndrome..

Patients are presented with Urethritis or

Cervicitis associated with gonorrhea or with

other diseases that can activate reactive

arthritis or Reiter’s Syndrome like Chlamydia or

gonorrhea like we said…other criteria is

Infectious Diarrhea: typical Reiter was

infectious Diarrhea not renal tract infection….

Like in Ankylosing Spondylitis


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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 it’ll improve with antibiotics and the

NSAIDs that happened several times…when 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 wasindeed 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 =)

As we said the infectious bacteria that causes

urinary tract infection in Reiter’s Syndrome

mainly gonorrhea and on top of that another

Urogenital infection could take place like

Chlamydia trachomatis and Ureaplasma …in thegastrointestinal 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.. Thisswelling can be seen clinically as an

evidence…this 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 it’s a classical rash for Reiter’s

Syndrome


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Reiter's

Keratoderma

blenorrhagica:

This is another rash

that comes withReiter’s

Reiter's:Pustules+

Keratoderma

blenorrhagica :

This is a more

aggressive rash

Reiter's Balanitis circinata:

This genital rash is different

from the genital rash in

Bechet’s disease which is more

on the scrotum

Reiter's tongue lesion:

Like in Bechet’s and SLE oral

ulcers happen in Reiter’s

Syndrome

Reiter's palate erosion:

This is a more extensive oral ulcer that involves

the palate…if u had a patient with these kind of

ulcers and back pain think about Reactivearthritis

Reiter's syndrome conjunctivitis:

Here’s one of the eye manifestation in Reiter’s like in

Ankylosing Spondylitis…but the difference between

Reiter’s and Ankylosing Spondylitis is that in Reiter’s

it’s more conjunctivitis than anterior Uveitis butReiter’s can cause Anterior Uveitis..also Bechet’s 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 Reiter’s

and in Psoriasis

Asymmetrical Sacroiliitis(more common in

Reiter's ):

As you can see in Reiter’s patients have

Sacroiliitis like in Ankylosing Spondylitis but

in Reactive Arthritis it’s more a symmetrical

one side is more affected than the other or

unilateral on the contrary in Ankylosing

Spondylitis it’s a more aggressive disease

and the Sacroiliitis is bilateral

Plantar periostitis seen in Reiter's(also seenin Rheumatoid Arthritis Ankylosing Spondylitis

, and Psoriasis) :

Here the calcaneal spur is more obvious than it’s

in the previous one …. Notice in Rheumatoid

Arthritis there’s arthritis but without any bone

reaction on the contrary in

Spondyloarthropathies there will be an extensive

bone reaction on the periosteum so we’ll 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 (it’s

delayed) 2-3 months/year after presentation

patients get the rash so these patients may bediagnosed 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 patient’s 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 (characterizedby 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 usuallyincomplete)

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 it’s 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 arthritis…you can see nail

dystrophy, Distal Interphalangeeal jointsaffected 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 presentation…notice the

shortening of the fingers because the bone is

destroyed (resorbed) so when an x-ray is takenthere 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

what’s 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 :

There’s no pitting in normal nails “everybody

should check his/her nails for pitting” ,the

doctor said!! Because Psoriasis isn’t anuncommon 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 doesn’t

happen in Rheumatoid Arthritis …other causes

of dactylitis: like in babies for example one

year old baby with dactylitis can be caused byan 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 disappeareddue to severe destruction..and we can see the

over reaction of the bone due to severe

periosteal reaction while in Rheumatoid

Arthritis there’s no reaction the patient x-ray

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

aren’t affected, with time and progression

of the disease the joints look like a pencil in

a cup as u see in C (

ر ص

قم

ثل

)

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 won’t go into details of the treatment of Psoriatic Arthritis, it’s 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 TissueNecrosis 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

http://en.wikipedia.org/wiki/Infliximabhttp://en.wikipedia.org/wiki/Infliximabhttp://en.wikipedia.org/wiki/Etanercepthttp://en.wikipedia.org/wiki/Adalimumabhttp://en.wikipedia.org/wiki/Adalimumabhttp://en.wikipedia.org/wiki/Etanercepthttp://en.wikipedia.org/wiki/Infliximab


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FMF( Familial Mediterranean Fever)

This disease is important in our area, it’s 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 WBC’s 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 noCT 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 seroustissues 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

http://en.wikipedia.org/wiki/Surgeryhttp://en.wikipedia.org/wiki/Abdominalhttp://en.wikipedia.org/wiki/Abdominal_cavityhttp://en.wikipedia.org/wiki/Inflammationhttp://en.wikipedia.org/wiki/Lungshttp://en.wikipedia.org/wiki/Pleurahttp://en.wikipedia.org/wiki/Pericardiumhttp://en.wikipedia.org/wiki/Peritoneumhttp://en.wikipedia.org/wiki/Peritoneumhttp://en.wikipedia.org/wiki/Pericardiumhttp://en.wikipedia.org/wiki/Pleurahttp://en.wikipedia.org/wiki/Lungshttp://en.wikipedia.org/wiki/Inflammationhttp://en.wikipedia.org/wiki/Abdominal_cavityhttp://en.wikipedia.org/wiki/Abdominalhttp://en.wikipedia.org/wiki/Surgery


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So the WBC’s 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 it’s 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 /regulateinflammation

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 that’s 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 typicalperitonitis 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 useNSAIDs 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 ZreigatFirst of all I’m very sorry for being sooo laaatee, I hope It didn’t affect anyone’s

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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