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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>white
women
SLE→Indonesian Lupus Foundation→789
people
Hasan Sadikin general hospital always have 10 new SLE patients every
month
>90% of cases of SLE →women
Female:male ratio→11:1
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 may be further damaged by local factors.
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
Degree of Severity of SLE
• Criteria for moderate SLE:– Mild to moderate nephritis (lupus nephritis class I
and II) – Thrombocytopenia (platelet 20-50x103/ mm3) – Serositis major
Degree of Severity of SLE• 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 of which the
musculoskeletal, cardiac, and ocular system
problems predominate that has an autosomal
dominant mode of transmission
Epidemiology
• The estimated incidence of MFS ranges from 1 in 5,000 to 2-3 in 10,000
Clinical Manifestation
Figure 1.
External phenotype of Marfan syndrome showing tall stature, long arm span, and limbs disproportionately greater than the body.
Figure 2.
Marfan syndrome. Note the elongated facies, droopy lids, apparent dolichostenomelia, and mild scoliosis.
Figure 3.
Pectus carinatum.
Figure 4.
Highly arched palate associated with Marfan’s syndrome.
Figure 6.
Arachnodactyly : long and slender fingers.
Figure 6.
Ectopia lentis-supranasal subluxation of the lens.
Figure 7.
Positive (Walker) wrist sign. Figure 8.
Positive (Steinberg) thumb sign.
CASE REPORT
CASE REPORTName : K K Age : 11 years 7 months Sex : FemaleDate 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 hand’s 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 REPORTHistory 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 REPORTHistory 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 : • Patient’s father died 1 year ago because of aorta hemorrhage
Pysical ExaminationPresens 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 ExaminationLocalized statusHead : • 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 cheekNeck : • Lymph node enlargement (-). JVP R-2 cmH20
Pysical ExaminationThorax: • 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 ExaminationAbdomen: • 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 PRODIAParameters Value Normal 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 1 3-6
Segment neutrophil 67 25-60
Laboratory Findings (October, 06th 2014) from PRODIAParameters Value Normal Value
Hematology
LE cell Tidak ditemukan
IMMUNOSEROLOGY
ASTO 200 <200
RF Positif 32 IU/mL Negatif
URINALYSA
Routine urine
Macroscopically
Color Kuning
Purity Agak keruh
Kimia
Density 1,015 1,003-1035
PH 5 4,5-8
Leukosit esterase 100 Negatif
Nitrit Negatif Negatif
Albumin 150 (+++) Negatif
Glucose Negatif Negatif
Keton Negatif Negatif
Urobilinogen 1(+1) Normal <=1
Bilirubin Negatif Negatif
Blood 250 Negatif
Microscopic Sediment
Eritrosit 5-10/LPB 0-2/LPB
Leukosit 2-5/LPB 0-5
Hyalin cylinders Negatif Negatif
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
AUTOIMMUNE
ANA test 133 <20
Anti ds-DNA 1260 0-200
ECG (October 15th 2014)
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• Sjogren’s 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 (+)
O
Sens : Compos mentis Temp. : 37 Oc
A Systemic Lupus Erythematosus
PManagement : IVFD D5% NaCl 0.45% 50 gtt/I micro Diet regular meal 1920 kkal + 82 gr protein
Head
Hair : black-thin hair, easy to fall
Eye : Pupil isocoric, inferior palpebra conjunctive pale (-), light reflex (+)
Ears : within normal condition.
Butterfly rash on cheeks and nose (+)
Mouth : within normal condition
Neck Lymph node enlargement (-)
ThoraxSymmetrical fusiformis, retraction (-)
Heart rate : 126x/i, regular, murmur (-)
Respiratory rate : 22x/i, regular, ronchi (-)
Abdomen Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable
EkstremitiesPulse 126x/I, regular, P/V : enough, warm ekstremities, CRT < 3”, brownish rash on feet and
palm of hands
16 October 2014
S Athralgia (+) ; Hair falling (+)
O
Sens : Compos mentis Temp. : 36,9 Oc
A Systemic Lupus Erythematosus
Head
Hair : black-thin hair, easy to fall
Eye : Pupil isocoric, inferior palpebra conjunctive pale (-), light reflex (+)
Ears : within normal condition.
Butterfly rash on cheeks and nose (+)
Mouth : within normal condition
Neck Lymph node enlargement (-)
ThoraxSymmetrical fusiformis, retraction (-)
Heart rate : 120x/i, regular, murmur (-)
Respiratory rate : 20x/i, regular, ronchi (-)
Abdomen Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable
EkstremitiesPulse 120x/I, regular, P/V : enough, warm ekstremities, CRT < 3”, brownish rash on feet and
palm of hands
P Management : 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-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 Athralgia (+) ; Hair falling (+)
O
Sens : Compos mentis Temp. : 37 Oc
ASystemic Lupus Erythematosus + Dilated Cardiomyopathy + Suspected Marfan Syndrome
Head
Hair : black-thin hair, easy to fall
Eye : Pupil isocoric, inferior palpebra conjunctive pale (-), light reflex (+)
Ears : within normal condition.
Butterfly rash on cheeks and nose (+)
Mouth : within normal condition
Neck Lymph node enlargement (-)
ThoraxSymmetrical fusiformis, retraction (-)
Heart rate : 94x/i, regular, murmur (-)
Respiratory rate : 20x/i, regular, ronchi (-)
Abdomen Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable
EkstremitiesPulse 94x/I, regular, P/V : enough, warm ekstremities, CRT < 3”, brownish rash on feet and
palm of hands, wrist and thumb sign (+)
P
Management :
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
Hydroxychloroquin 2 x 125 mg
Furosemid 2 x 40 mg
Spironolactone 2 x 25 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 Athralgia (+) ; Hair falling (+)
O
Sens : Compos mentis Temp. : 37,2 Oc
ASystemic Lupus Erythematosus + Dilated Cardiomyopathy + Suspected Marfan Syndrome
Head
Eye : Pupil isocoric, inferior palpebra conjunctive pale (-), light reflex (+)
Ears : within normal condition. Nose : Brownish rash around nose.Mouth : within normal condition
Neck Lymph node enlargement (-)
ThoraxSymmetrical fusiformis, retraction (-)Heart rate : 90x/i, regular, murmur (-)Respiratory rate : 22x/i, regular, ronchi (-)
Abdomen Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable
EkstremitiesPulse 90x/I, regular, P/V : enough, warm ekstremities, CRT < 3”, brownish rash on feet and palm of hands
P Management : 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-3) 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 Calnic plus 1 x Cth.I 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 Athralgia (+) ; Hair falling (+)
O
Sens : Compos mentis Temp. : 37,2 Oc
ASystemic Lupus Erythematosus + Dilated Cardiomyopathy + Suspected Marfan Syndrome
Head
Hair : black-thin hair, easy to fall
Eye : Pupil isocoric, inferior palpebra conjunctive pale (-), light reflex (+)
Ears : within normal condition.
Butterfly rash on cheeks and nose (+)
Mouth : within normal condition
Neck Lymph node enlargement (-)
ThoraxSymmetrical fusiformis, retraction (-)
Heart rate : 96x/i, regular, murmur (-)
Respiratory rate : 20x/i, regular, ronchi (-)
Abdomen Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable
EkstremitiesPulse 96x/I, regular, P/V : enough, warm ekstremities, CRT < 3”, brownish rash on feet and
palm of hands, wrist and thumb sign (+)
PManagement : IVFD D5% NaCl 0.45% 50 gtt/I micro Diet regular meal 1920 kkal + 82 gr protein CPA 750 mg 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 Calnic plus 1 x Cth.I Vitamin E 1 x 1 tab Parasol Cream
21 October 2014
S Athralgia (+) ; Hair falling (+)
O
Sens : Compos mentis Temp. : 37,3 Oc
ASystemic Lupus Erythematosus + Dilated Cardiomyopathy + Suspected Marfan Syndrome
Head
Hair : black-thin hair, easy to fall
Eye : Pupil isocoric, inferior palpebra conjunctive pale (-), light reflex (+)
Ears : within normal condition.
Butterfly rash on cheeks and nose (+)
Mouth : within normal condition
Neck Lymph node enlargement (-)
ThoraxSymmetrical fusiformis, retraction (-)
Heart rate : 120x/i, regular, murmur (-)
Respiratory rate : 20x/i, regular, ronchi (-)
Abdomen Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable
EkstremitiesPulse 120x/I, regular, P/V : enough, warm ekstremities, CRT < 3”, brownish rash on feet and
palm of hands, wrist and thumb sign (+)
P Management : IVFD D5% NaCl 0.45% 50 gtt/I micro Diet regular meal 1920 kkal + 82 gr protein 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 Calnic plus 1 x Cth.I Vitamin E 1 x 1 tab
Diagnostic Plans : EchocardiographyEchocardiography Result : Dilated Cardiomyopathy, mild MR, mild AR, and dilated annulus aorta.
22 - 23October 2014
S Athralgia (+) ; Hair falling (+)
O
Sens : Compos mentis Temp. : 36,7 Oc
ASystemic Lupus Erythematosus + Dilated Cardiomyopathy + Suspected Marfan Syndrome
Head
Hair : black-thin hair, easy to fall
Eye : Pupil isocoric, inferior palpebra conjunctive pale (-), light reflex (+)
Ears : within normal condition.
Butterfly rash on cheeks and nose (+)
Mouth : within normal condition
Neck Lymph node enlargement (-)
ThoraxSymmetrical fusiformis, retraction (-)
Heart rate : 100x/i, regular, murmur (-)
Respiratory rate : 20x/i, regular, ronchi (-)
Abdomen Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable
EkstremitiesPulse 100x/I, regular, P/V : enough, warm ekstremities, CRT < 3”, brownish rash on feet and
palm of hands , wrist and thumb sign (+)
PManagement : IVFD D5% NaCl 0.45% 50 gtt/I micro Diet regular meal 1920 kkal + 82 gr protein Propanolol 3 X 40 mg Oral Methylprednisolone 4-4-4 Hydroxychloroquin 2 x 125 mg Furosemid 2 x 40 mg Digoxin 2 x 1 tab Calnic plus 1 x Cth.I Vitamin E 1 x 1 tab
Diagnostic Plans : Renal Biopsy
24 – 27 October 2014
S Athralgia (+)
O
Sens : Compos mentis Temp. : 36,9 Oc
ASystemic Lupus Erythematosus + Dilated Cardiomyopathy + Suspected Marfan Syndrome
Head
Hair : black-thin hair, easy to fall
Eye : Pupil isocoric, inferior palpebra conjunctive pale (-), light reflex (+)
Ears : within normal condition.
Butterfly rash on cheeks and nose (+)
Mouth : within normal condition
Neck Lymph node enlargement (-)
ThoraxSymmetrical fusiformis, retraction (-)
Heart rate : 96x/i, regular, murmur (-)
Respiratory rate : 20x/i, regular, ronchi (-)
Abdomen Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable
EkstremitiesPulse 96x/I, regular, P/V : enough, warm ekstremities, CRT < 3” brownish rash on feet and
palm of hands , wrist and thumb sign (+)
P
Management :
IVFD D5% NaCl 0.45% 50 gtt/I micro (Aff. on 27 October 2014)
Diet regular meal 1920 kkal + 82 gr protein
Inj. Vitamin K 1 mg IM. for 3 days
Propanolol 3 x 40 mg
Oral Methylprednisolone 4-4-4
Hydroxychloroquin 2 x 125 mg
Furosemid 2 x 40 mg
Digoxin 2 x 1 tab
Calnic plus 1 x Cth.I
Vitamin E 1 x 1 tab
Diagnostic Plans :
Renal Biopsy
Test complete blood count, RFT, HST
28 – 29 October 2014
S Stomach ache (+)
O
Sens : Compos mentis Temp. : 37 Oc
ASystemic Lupus Erythematosus + Dilated Cardiomyopathy + Suspected Marfan Syndrome
Head
Hair : black-thin hair, easy to fall
Eye : Pupil isocoric, inferior palpebra conjunctive pale (-), light reflex (+)
Ears : within normal condition.
Butterfly rash on cheeks and nose (+)
Mouth : within normal condition
Neck Lymph node enlargement (-)
ThoraxSymmetrical fusiformis, retraction (-)
Heart rate : 90x/i, regular, murmur (-)
Respiratory rate : 20x/i, regular, ronchi (-)
Abdomen Soeple, normoperistaltic, Liver/Spleen/Renal : unpalpable
EkstremitiesPulse 90x/I, regular, P/V : enough, warm ekstremities, CRT < 3” brownish rash on feet and
palm of hands , wrist and thumb sign (+)
P Management :
Diet regular meal 1920 kkal + 82 gr protein
Inj. Ranitidine 1 amp/12 hours IV
Oral Methylprednisolone 4-4-4
Hydroxychloroquin 2 x 125 mg
Furosemid 2 x 40 mg
Digoxin 2 x 1 tab
Calnic plus 1 x Cth.I
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
SLEACR 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
Antinuclear antibody ANA: 133 (+)
• 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 poor—the 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 patient’s 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.
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