Systemic Lupus Erithematosus & Marfan's Syndrome

SYSTEMIC LUPUS
ERITHEMATOSUS & MARFAN

SYNDROME
CASE REPORT
Presenter: 1. Jennie Rafdiani Telaumbanua
(100100231)
2. Binartha Utami
(100100241)
Supervisor: dr. Gema Nazri Yanni, M.Ked (Ped),
Sp.A
SYSTEMIC LUPUS
ERITHEMATOSUS (SLE)
Introduction
Systemic lupus erythematosus (SLE) is a
chronic inflammatory disease that has
manifestasions and follows a relapsing
and remitting course
It is characterized by an autoantibody
response to nuclear and cytoplasmic
antigens
SLE can affect any organ system, but it
mainly involves the skin, joints, kidneys,
blood cells, and nervou system
Epidemiology
The Lupus
Foundation of
America:
Prevalence up to
1,5 million case
The National
Arthritis Data
Working Group:
250.000
americans have
definite SLE
Incidence of SLE in
black women is
approximately 4
times higher
than that in white
women
Asian
women>whit
e women
SLEIndonesian
Lupus
Foundation789
people
Hasan Sadikin
general hospital
always have 10
new SLE patients
every month
>90% of cases
of SLE women
Female:male
ratio11:1
during the
childbearing
years
PATHOGENESIS
Genetic, environmental,
hormonal, epigenetic, and
immunoregulatory factors
act either sequentially or
simultaneously on the
immune system
The action of pathogenic
factors results in the
generation of autoantibodies,
immune complexes,
autoreactive or inflammatory
T cells, and inflammatory
cytokines that may initiate
and amplify inflammation
and damage to various
organs
The target organ affected
Diagnosis
The diagnosis of SLE is based on
clinical and laboratory criteria
The criteria set developed by the
American College of Rheumatology
(ACR) is most widely used
An algorithm for the diagnosis of

SLE
Degree of Severity of SLE

Criteria for mild SLE:
Clinically quiet
No signs or symptoms of life threatening
Normal organ function or stable; renal,
lungs, cardiac, GI, CNS, joint,
haematology, skin
Examples of SLE with arthritis and

skin manifestions

Criteria for moderate SLE:
Mild to moderate nephritis (lupus
nephritis class I and II)
Thrombocytopenia (platelet 20-50x103/
mm3)
Serositis major

Severe or life threatening SLE:
Heart: Libman-Sacks endocarditis, coronary artery vasculitis,
myocarditis, cardiac tamponade, malignant hypertension
Lungs: pulmonary hypertension, pulmonary hemorrhage,
pneumonitis, pulmonary embolism, pulmonary infarction,
interstitial fibrosis, lung shrinking
Gastrointestinal: pancreatitis, mesenteric vasculitis.
Kidney: proliferative or and membranous. nephritis
Skin: severe vasculitis, diffuse rash with ulcers or blisters
Neurological: convulsions, acute confusional state, coma, stroke,
transverse myelopathy, mononeuritis, polineuritis, optic neuritis,
psychosis, demyelinating syndrome.
Hematologic: hemolytic anemia, neutropenia (leukocytes
<1,000 / mm3), thrombocytopenia <20,000 / mm 3,
thrombocytopenic purpura, vein or artery thrombotic
ch
MARFAN SYNDROME
Definition
Marfan syndrome is a spectrum disorder
caused by a heritable genetic defect of
connective
tissue
musculoskeletal,
of
cardiac,
which
and
the
ocular
system problems predominate that has an

autosomal
transmission
dominant
mode
of
Epidemiology
The estimated incidence of MFS
ranges from 1 in 5,000 to 2-3 in
10,000
Clinical Manifestation
Figure 1.
Figure 2.
External phenotype of Marfan

syndrome showing tall stature, long
arm
span,
and
limbs
disproportionately greater than the
body.
Marfan syndrome. Note the

elongated facies, droopy lids,
apparent dolichostenomelia,
and mild scoliosis.
Figure 3.
Figure 4.
Pectus carinatum.
Highly
arched
palate
associated with Marfans
syndrome.
Figure 6.
Ectopia lentissupranasal subluxation
of the lens.
Figure 6.
Arachnodactyly : long and slender
fingers.
Figure 7.
Positive (Walker) wrist
sign.
Figure 8.
Positive (Steinberg) thumb
sign.
CASE REPORT
CASE REPORT
Name : K K
Age : 11 years 7 months
Sex : Female
Date of Admission : September, 14th 2014
Main Complaint : Joint pain

History :
Joint pain was first occurred 2 months ago and continued until
patient was admitted to Haji Adam Malik General Hospital. Pain
was experienced in the hands joint, foot, and calf ; felt like heavy,
especially when patient moved
Patient also suffered from hair loss during these two months.
History of arise rash on the nose and cheeks like butterfly was
found in these two months. The color of rash initially was reddish
then become brownish now. The brownish small spots were also
found in the hand and foot.
CASE REPORT
Fever was not found when patient arrived in emergency

unit. History of fever was found two months ago when the
rash appeared. Fever was up and down, and was reduced
when patient took paracetamol.
History of weight loss was found 2-3 kg in two months.
Patient also felt chest thumping since two months ago,
mostly when the patient did an activity.
History of previous illness
:
The patient was previously admitted to general hospital in
Banda Aceh before being reffered to Haji Adam Malik
Hospital and diagnosed with Systemic Lupus Erythematosus.
History of previous medications : not clear
History of pregnancy
:
Patient was the second child in his family. Antenatal care
was done by his mother. There is no history of fever,
hypertension, diabetic mellitus, and consumption of drugs
and herbal medicine.
CASE REPORT
History of birth:
Patient was aterm when delivered on spontaneous labor,
helped by Obstetrician. She was cried immediately. Birth
weight was 3000 grams, birth length was 65 cm, and no
history of cyanosis was found during the birth.
Feeding History:
Birth to 6 months
: Breast milk and formula milk
6-9 months
: Breast milk, formula milk, and rice
porridge
9 months 2 years
: Breast milk, formula milk, rice
porridge, and soft rice
2 years until now
: formula milk and family food
CASE REPORT
History of Growth and Development
Sitting : 2 months
Crawling : 2 months
Standing : 15 months
Walking : 18 months
Talking : 27 months
History of Immunization
Complete
History of Family Disease
:
Patients father died 1 year ago because of aorta
hemorrhage
Pysical Examination
Presens status
Consciousness was alert, blood pressure was 100/60 mmHg, heart
rate was 80 bpm, respiratory rate was 22x/min, body temperature was
37 oC
Anemic (-); Icteric (-); Cyanotic (-); Edema (-). Dyspnea (-).
Antropometric status
Body weight (BW): 41kg, Body height (BH): 165 cm
Body weight in 50th percentile according to age: 39 kg
Body height in 50th percentile according to age: 147 cm
Body weight in 50th percentile according to body height: 58 kg
BW/age: 41/39 x 100% = 105 %

BH/age : 165/147 x 100% = 112 %
BW/BH: 22/25 x 100% = 71 %
Pysical Examination
Localized status
Head :
Hair : (+), black-thin hair, hair loss (+)
Right eye : Pupil diameter 3 mm. Conjunctiva
palpebra inferior pale (-). Sclera: icteric (-).
Light reflex (+)
Left eye : Pupil diameter 3 mm. Conjunctiva
palpebra inferior: pale (-). Sclera: icteric (-).
Light reflex (+).
Ear/nose/mouth: normal/ brownish butterfly
rash +/normal.
Face: butterfly rash (+) around the nose and
cheek
Neck :
Pysical Examination
Thorax:
Inspection : Symmetrical fusiformis., ictus
cordis unvisible, chest retraction (-)
Palpation :
Lungs : Stem fremitus right=left, normal impression
Heart : Lateral shifting of ictus cordis (+)
Percussion
Lungs : sonor in both lung fields
Heart border : Superior ICR III sinistra; Right 1 cm
lateral LSD; Left 1 cm lateral LMCS
Auscultation
Lungs : vesicular, rales (-), wheezing (-) RR; 22
times/minute, regular
Heart : heart rate 80 bpm, regular, murmur (-)
Pysical Examination
Abdomen:
Inspection : symmetrical
Palpation : Soepel, tenderness (-), H/L/R: unpalpable
Percussion: tympanic
Auscultation : normoperistaltic
Extremities:
Superior : Cyanosis (-/-), Clubbing finger (-/-)
Inferior
: Cyanosis (-/-), Clubbing finger (-/-), pretibial
edema (-/-), pulse (+/+) 80 bpm, regular, P/V adequate,
CRT<3 seconds, warm.
Genitalia:
Female; within normal limit
Laboratory Findings (October, 06th 2014)

from
PRODIA Normal Value
Parameters
Value
Complete Blood Count
Hemoglobin
12,20 gr%
12,0 14,4 gr%
Hematocrite
36,4 %
37 41%
Erythrocyte
4,68 x 106 /mm3
4,40 4,48 x 106 /mm3
Leucocyte
2,02 x 103 /mm3
4,5 13.5x 103 /mm3
Platelet
119.000 /mm3
150.000 450.000 /mm3
MCV
77,8 fl
81 95 fl
MCH
25,9 pg
25 29pg
MCHC
33,2 gr%
29 31 gr%
RDW
15,2 %
11.6 14.8 %
LED
55
0-10
Difftel
Lymphocyte
23,0
25-50
Monocyte
8,0
1-6
Eosinophil
1,0
1-5
Basophil
0,0
0-1
Rod neutrophil
3-6
Segment neutrophil
67
25-60
Laboratory Findings (October, 06th

2014) from PRODIA
Parameters
Hematology
LE cell
Value
Normal Value
Tidak ditemukan
IMMUNOSEROLOGY
ASTO
RF
URINALYSA
200
Positif 32 IU/mL
<200
Negatif
Routine urine
Macroscopically
Color
Kuning
Purity
Agak keruh
Kimia
Density
PH
Leukosit esterase
Nitrit
Albumin
Glucose
Keton
Urobilinogen
Bilirubin
Blood
Microscopic Sediment
Eritrosit
1,015
5
100
Negatif
150 (+++)
Negatif
Negatif
1(+1)
Negatif
250
1,003-1035
4,5-8
Negatif
Negatif
Negatif
Negatif
Negatif
Normal <=1
Negatif
Negatif
5-10/LPB
0-2/LPB
Laboratory Findings (October, 16th

2014) in ADAM MALIK
Parameters
Value
Normal Value
Hati
Fosfatase Alkali (ALP) 158 U/L
< 300
AST/SGOT
442 U/L
< 32
ALT/SGPT
113 U/L
<31
ANA test
133
<20
Anti ds-DNA
1260
0-200
AUTOIMMUNE
ECG (October 15 2014)

th
Result :
Sinus takikardi, RAD,
Radiologic Imaging (October 20th 2014)
Result:
Cardiomegaly
Chest X-Ray
Boney Survey (October 20th

2014)
Boney Survey (October 20th

2014)
Conclusion of bone survey :
no abnormality of bones was
found
Echocardiography (October 21th 2014)
Result:
Dilated cardiomyopathy, mild MR, mild AR, dilated
anulus aorta
Differential Diagnosis:
Systemic Lupus Erithematosus
Rheumatoid Arthritis
Sjogrens syndrome
Working Diagnosis:
Systemic Lupus Erithematosus
Early Management:
Bed rest
IVFD D5% NaCl 0,45%, 60 gtt/i micro
Diet regular meal low natrium 1520 kkal with 82 gram
protein
Diagnostic Planning:
Urinalysis
Chest X-ray
ECG
Echocardiography
Funduscopy
FOLLOW UP
15 October 2014
S
Athralgia (+) ; Hair falling (+)

Sens : Compos mentis
Temp. : 37 Oc
Hair : black-thin hair, easy to fall

Eye : Pupil isocoric, inferior palpebra conjunctive pale (-), light reflex (+)
Head
Ears : within normal condition.

Butterfly rash on cheeks and nose (+)
Mouth : within normal condition
Neck
Lymph node enlargement (-)

Symmetrical fusiformis, retraction (-)
Thorax
Heart rate : 126x/i, regular, murmur (-)

Respiratory rate : 22x/i, regular, ronchi (-)
Abdomen
Ekstremities
Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable

Pulse 126x/I, regular, P/V : enough, warm ekstremities, CRT < 3, brownish rash on feet and
palm of hands
Systemic Lupus Erythematosus
Management :
IVFD D5% NaCl 0.45% 50 gtt/I micro
Diet regular meal 1920 kkal + 82 gr protein
16 October 2014
S

Temp. : 36,9 Oc

Head

Neck

Thorax

Abdomen
Ekstremities

palm of hands
Systemic Lupus Erythematosus
Management :
Inj.Methylprednisolone 1000 mg for 3 days (Day-1)
Oral Methylprednisolone 4-4-4
Hydroxychloroquin 2 x 125 mg
Furosemid 2 x 40 mg
Spironolactone 2 x 25 mg
Digoxin 2 x 1 tab
Diagnostic Plans :
Test complete blood count, EPR, CRP, iron profile, VDRL, LFT, RFT,
ANA, anti ds-DNA
Urinalysis and urin culture
Echocardiography.
Echocardiography Result : Dilated Cardiomyopathy
17 - 18 October 2014
S

Temp. : 37 Oc

Head

Neck

Thorax

Abdomen
Ekstremities

palm of hands, wrist and thumb sign (+)
Systemic Lupus Erythematosus + Dilated Cardiomyopathy + Suspected

Marfan Syndrome
P
Management :
Furosemid 2 x 40 mg
Digoxin 2 x 1 tab
Calnic plus 1 x Cth.I
Vitamin E 1 x 1 tab
Parasol Cream 2 x appl. I
Diagnostic Plans :
Bone Survey
Bone Age
Schedel X-Ray
Consult to Department of Eye Health
Renal Function Test (Ureum, Creatinin)
Renal USG
Renal Biopsy
Repeat Echocardiography on Tuesday, 21st October 2014
18 October 2014
S

Temp. : 37,2 Oc
Head
Eye : Pupil isocoric, inferior palpebra conjunctive pale (-),

light reflex (+)
Nose : Brownish rash around nose.
Neck
Thorax

Abdomen
Ekstremities
Pulse 90x/I, regular, P/V : enough, warm ekstremities, CRT <

3, brownish rash on feet and palm of hands
Systemic Lupus Erythematosus + Dilated Cardiomyopathy + Suspected Marfan

Syndrome
Management :
Furosemid 2 x 40 mg
Digoxin 2 x 1 tab
Vitamin E 1 x 1 tab
Parasol Cream
Diagnostic Plans :
Bone Survey
Bone Age
Schedel X-Ray
Consult to Department of Eye Health
Renal Function Test (Ureum, Creatinin)
Renal USG
Renal Biopsy
Repeat Echocardiography on Tuesday, 21st October 2014
19 - 20 October 2014
S

Temp. : 37,2 Oc

Head

Neck

Thorax

Abdomen
Ekstremities


Syndrome
Management :
CPA 750 mg
Furosemid 2 x 40 mg
Digoxin 2 x 1 tab
Vitamin E 1 x 1 tab
Parasol Cream
21 October 2014
S

Temp. : 37,3 Oc

Head

Neck

Thorax

Abdomen
Ekstremities
A


Syndrome
Management :
Furosemid 2 x 40 mg
Digoxin 2 x 1 tab
Vitamin E 1 x 1 tab
Diagnostic Plans :
Echocardiography
Echocardiography Result : Dilated Cardiomyopathy, mild MR, mild AR, and
dilated annulus aorta.
22 - 23October 2014
S

Temp. : 36,7 Oc

Head

Neck
O

Thorax

Abdomen
Ekstremities

palm of hands , wrist and thumb sign (+)

Syndrome
Management :
Propanolol 3 X 40 mg
Furosemid 2 x 40 mg
Digoxin 2 x 1 tab
Vitamin E 1 x 1 tab
Diagnostic Plans : Renal Biopsy
24 27 October 2014
S
Athralgia (+)
Temp. : 36,9 Oc

Head

Neck

Thorax

Abdomen
Ekstremities
A

Pulse 96x/I, regular, P/V : enough, warm ekstremities, CRT < 3 brownish rash on feet and

Syndrome
P
Management :
IVFD D5% NaCl 0.45% 50 gtt/I micro (Aff. on 27 October 2014)
Inj. Vitamin K 1 mg IM. for 3 days
Propanolol 3 x 40 mg
Furosemid 2 x 40 mg
Digoxin 2 x 1 tab
Vitamin E 1 x 1 tab
Diagnostic Plans :
Renal Biopsy
Test complete blood count, RFT, HST
28 29 October 2014
S
Stomach ache (+)

Temp. : 37 Oc

Head

Neck
O

Thorax

Abdomen
Ekstremities

Pulse 90x/I, regular, P/V : enough, warm ekstremities, CRT < 3 brownish rash on feet and

Syndrome
Management :
Inj. Ranitidine 1 amp/12 hours IV
Furosemid 2 x 40 mg
Digoxin 2 x 1 tab
Plans :
Renal Biopsy
DISCUSSION
The diagnosis of SLE must be based

on the proper constellation of clinical
findings and laboratory evidence.
The American College of
Rheumatology (ACR) criteria,
proposed in 1982 and revised in
1997, summarize features that may
aid in the diagnosis
SLE
ACR Criteria
In this Patient:
Malar rash
(+)
Discoid rash
(-)
Photosensitivity
(+)
Oral ulcer
(+)
Arthritis
(+)
Serositis
Not found
Renal disorder
Dipstick urine; Protein (+)

Microscopic sediment; Eritrosit
(+)
Neurological disorder
Not clear
Haematological disorder
Leucopenia: 2,02 x 103 /mm3

Thrombocytopenia: 119.000 /mm3
Lymphopenia: 23,0/mm3
Immunologic disorder
Anti ds-DNA: 1260
To determine the treatment of SLE is based on the

degree of severity of the disease
Although the patient suspected with lupus nephritis,
but she still classified as mild SLE with only have
skin and arthitis manifestation
therefore the therapeutic option to be given is
Hydroxychloroquine/Chloroquine with or without
corticosteroid and NSAID (Non Steroid
Antiinflamation Drugs)
Appropriate with these treatment recomendations,
the patient has been given oral metilprednisolone
and hydroxychloquine
Lately, prognosis of various forms of lupus

has improved the survival rate for 10 years
by 90%
Cause of death could be directly due to
lupus disease, that is renal failure,
malignant hypertension, CNS damage,
pericarditis, autoimmune cytopenia
But recent deaths of the disease has
declined because of improved treatments
and early diagnosis
But in this patient who have dilated

cardiomyopathy (DCM) makes the
prognosis worsen
the prognosis for patients with
persistent DCM who do not undergo
cardiac transplantation is poorthe
average 5-year survival rate is under
50%
Most patients who have

Marfan syndrome are
usually
diagnosed
incidentally when they
present for a routine
physical examination for
various reasons.
Typically, patients with
Marfan
syndrome
present with tall stature,
ectopia lentis, aortic
root dilatation, and a
positive family history
This
patient
was
diagnosed
with
SLE
before being reffered to
Haji
Adam
Malik
Hospital.
She
was
primarily
hospitalized
because of this disease
and not with Marfan
Syndrome.
But then the physicians
here became aware of
her thin-tall stature and
started to suspect her
with Marfan Syndrome.
Marfan Syndrome is a heritable genetic disorder that

has an autosomal dominant mode of transmission.
Thus, the family history of this syndrome is usually
positive.
It is unclear whether this patients family has a

history of Marfan Syndrome because none of her
parents was ever diagnosed with this syndrome.
But further history taking revealed that his father
also had thin-tall stature and long limbs and fingers
and was died because of aorta hemorrhage,
possibly an aorta dissection or aneurysm all are
salient features of Marfan Syndrome
Marfan
Syndrome
cause abnormalities
in several organs, of
which
the
musculoskeletal,
cardiac, and ocular
system
problems
predominate.
Other
tissues,
including respiratory
tract,
skin
and
integument may be
affected.
This patient shows

some
clinical
findings that are
related to Marfan
Syndrome, although
no single findings is
pathognomic
for
MFS, such as tall
and thin stature ;
long
limbs
and
fingers ; positive
thumb and wrist
sign ; aortic valve
regurgitation
Diagnosis of Marfan Syndrome is established

by using revised Ghent Criteria which include
clinical manifestation and/or genetic testing
of genes involved in this disorder.
For some reasons, Marfan Syndrome is

difficult to be established in this patient
despite of several features of MFS that she
has. For example : unclear family history of
MFS ; eyes examination and genetic testing
has not been done.
SUMMARY
It has been reported, a girl, 11 years old, with

the main complaint of joint pain and diagnosed
with Systemic Lupus Erythematosus with
Dilated Cardiomyopathy and also suspected
with Marfan Syndrome.
The diagnose was established based on history
taking, physical diagnostic, laboratory finding,
electrocardiography and echocardiography.
The patient has been given medical therapy
and been discharge from the hospital on
October 30th 2014 with a good improvement
and still needs to get routine medical check up.
THANK YOU..

Systemic Lupus Erithematosus & Marfan's Syndrome

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SYSTEMIC LUPUS

ERITHEMATOSUS & MARFAN

An algorithm for the diagnosis of

Degree of Severity of SLE

Examples of SLE with arthritis and

Degree of Severity of SLE

Degree of Severity of SLE

system problems predominate that has an

External phenotype of Marfan

Marfan syndrome. Note the

Main Complaint : Joint pain

Fever was not found when patient arrived in emergency

BW/age: 41/39 x 100% = 105 %

Laboratory Findings (October, 06th 2014)

12,0 14,4 gr%

4,68 x 106 /mm3

4,40 4,48 x 106 /mm3

2,02 x 103 /mm3

4,5 13.5x 103 /mm3

150.000 450.000 /mm3

Laboratory Findings (October, 06th

Laboratory Findings (October, 16th

ECG (October 15 2014)

Radiologic Imaging (October 20th 2014)

Boney Survey (October 20th

Boney Survey (October 20th

Echocardiography (October 21th 2014)

Athralgia (+) ; Hair falling (+)

Hair : black-thin hair, easy to fall

Ears : within normal condition.

Lymph node enlargement (-)

Heart rate : 126x/i, regular, murmur (-)

Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable

Systemic Lupus Erythematosus

Athralgia (+) ; Hair falling (+)

Hair : black-thin hair, easy to fall

Ears : within normal condition.

Lymph node enlargement (-)

Heart rate : 120x/i, regular, murmur (-)

Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable

Systemic Lupus Erythematosus

Athralgia (+) ; Hair falling (+)

Hair : black-thin hair, easy to fall

Ears : within normal condition.

Lymph node enlargement (-)

Heart rate : 94x/i, regular, murmur (-)

Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable

Systemic Lupus Erythematosus + Dilated Cardiomyopathy + Suspected

IVFD D5% NaCl 0.45% 50 gtt/I micro

Diet regular meal 1920 kkal + 82 gr protein

Inj.Methylprednisolone 1000 mg for 3 days (Day-2)

Oral Methylprednisolone 4-4-4

Calnic plus 1 x Cth.I

Parasol Cream 2 x appl. I

Consult to Department of Eye Health

Renal Function Test (Ureum, Creatinin)

Repeat Echocardiography on Tuesday, 21st October 2014

Athralgia (+) ; Hair falling (+)

Eye : Pupil isocoric, inferior palpebra conjunctive pale (-),

Lymph node enlargement (-)

Symmetrical fusiformis, retraction (-)

Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable

Pulse 90x/I, regular, P/V : enough, warm ekstremities, CRT <