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>white

SLE→Indonesian Lupus Foundation→789

people

Hasan Sadikin general hospital always have 10 new SLE patients every

>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

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

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

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)

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 (+)

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

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

Sens : Compos mentis Temp. : 36,9 Oc

A Systemic Lupus Erythematosus

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

ASystemic Lupus Erythematosus + Dilated Cardiomyopathy + Suspected Marfan Syndrome

palm of hands, wrist and thumb sign (+)

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

Ears : within normal condition. Nose : Brownish rash around nose.Mouth : within normal condition

ThoraxSymmetrical fusiformis, retraction (-)Heart rate : 90x/i, regular, murmur (-)Respiratory rate : 22x/i, regular, ronchi (-)

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

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

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

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 (+)

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

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 (+)

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

P 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

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.

THANK YOU..

systemic lupus erithematosus & marfan’s syndrome

mild sle

moderate sle

skinexamples of sle

life threatening sle

nephritis skin

pulmonary infarction

pulmonary embolism

pulmonary hypertension

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