¨t²Î©Ê¬õ´³¯T½H¨Ö§ÜÁCà¯gÔ¸s
(antiphospholipid
syndrome, Hughes syndrome)
<Case
presentation>
Chief complaint A 34 year-old female
was admitted to the infectious disease ward because of fever,
swelling of bilateral lower legs and a wound on the lateral
malleolus of her left foot for more than one week
Past history
- Drug allergy(-), Food allergy(-)
- Smoke(-), Alcohol(-)
- Hypertension(-),DM(-)
- Surgical intervention(-)
- Occupation: nil
- Education: °ªÂ¾¹A¤u
Clinical
course:
- 1994-April: She was admitted to our
neurology ward due to incoherent, irrelevant speech and mild
fever for 2~3 weeks. Cerebrospinal fluid (CSF) study and
immunological data showed normal results. Major depression
was suspected
- 1994-May: She was admitted to our
ophthalmology ward due to blurred vision. Optic neuritis R/O
multiple sclerosis was suspected. But MRI showed ischemic
change at left thalamus and bilateral hypothalamus.
Vasculitis such as systemic lupus erythematous (SLE) was
suspected.
- 2003-April: She was admitted to
our neurology ward due to intermittent numbness around the
trunk associated with an unstable gait and urinary
incontinence for 6 months. Agarose gel electrophoresis of CSF
showed oligoclonal bands. The evoked potential response
test was abnormal. MRI revealed multiple spinal cord lesions that
were consistent with multiple sclerosis involving the spinal
cord below C1 level. Multiple sclerosis was diagnosed. She
received one course of interferon treatment. The sequelae
were paraplegia and nearly total blindness. She lost to
follow-up for more than 2 years and received herb drug
treatment intermittently.
- 2005-September: She got a wound on the lateral malleolus
of left foot accidentally, then fever and swelling of
bilateral lower legs developed. She was admitted to a local
hospital due to suspected cellulitis. However after
receiving antibiotics for three days, the fever persisted
and the lower leg edema aggravated. Hence she was referred
to our infectious disease department for further
treatment.
Physical
examination Consciousness: clear,
E4V5M6 Vital sign: BT:37.8, BP:112/70mmHg, RR: 18/min
PR:76/min Conjunctiva: not pale sclera: not icteric
Neck: supple, LAP(-) , JVE(-), goiter(-) Chest: symmetric
expansion, BS: decrease over bilateral
lungs HS: regular heart rate, Gr II/VI
Systolic murmur over LLSB Abdomen: soft &
obese L/S: impalpable
Shifting dullness(-) No tenderness, no rebound
pain Extremities: paraplegia(+) but only light touch
sensation(+), pain sensation(-) pitting edema
of bilateral lower legs and feet(+) a wound on
the lateral malleolus of left foot: erythema(+), local heat
(+), yellow discharge with foul
odor(+) Palpable inguinal LAPs(-)
Laboratory
data
- WBC: 2830 Hb:11.1 MCV: 92.3
Platelet:140000 ESR: 96mm/1h Č
- Urine protein(-) OB(-) sugar(-) RBC:
0-2/HPF, WBC: 2-5/HPF, Epi: 5-10/HPF Č
- Stool OB(-) Č
- TP: 6.5, albumin: 2.5, GOT:31,
GPT:15, LDH: 149, BUN: 20, Cr:1.47, Na: 138, K: 4.8, CL:
107, AC sugar: 87, Cholesterol: 134, TG: 224, UA: 10.02 Č
- CRP: 17.5 D-dimer: <324 mg/dl Č
- S-iron: 47 mg/dl, UIBC: 143 mg/dl,
Ferritin: 393.5 mg/dl
- Immunological data: as the following table
|
1994-03 |
2003-04 |
2005-09 |
ANA |
- |
- |
>1:2560 |
Anti-DS-DNA |
- |
- |
>400 |
RA factor |
14.1 |
139 |
167 |
VDRL |
- |
- |
- |
LE cell |
- |
- |
|
C3 |
|
94 |
22.8 |
C4 |
|
11.6 |
5.67 |
IgG |
1510 |
|
3370 |
IgA |
|
|
328 |
IgM |
|
|
101 |
PT |
|
11.5/12.3 |
11.1/11.1 |
INR |
|
0.88 |
0.94 |
PTT |
|
31.6/27.1 |
30.2/29.1 |
aCL IgG |
|
|
+ (79) |
LAC |
|
|
<1.2 |
Anti-Ro |
|
|
(+) (>240) |
Anti-La |
|
|
(-) |
Anti-Sm |
|
|
(+) (>120) |
Anti-RNP |
|
|
(+)(>240) |
Anti-Jo-1 |
|
|
(-) |
Anti-Scl-70 |
|
|
(-) |
Chest PA:
cardiomegaly R/O pericardial
effusion,
R/O pleural effusion
Cardiac echo
- Moderate pericardial effusion Č
- Moderate TR Č
- Pulmonary hypertension
Classification criteria of SLE
that this patient met:
- ANA(+)
- Oral ulcer(-)
- Malar rash(-)
- Discoid rash(-)
- Photosensitivity(-)
- Serositis(+)
- Renal disorder (-): urine protein(1+)
- Neurological disorder(+)
- Hematological disorder: WBC 2830
- Immunological disorder:
anti-DS-DNA(+) anti-Sm(+), anti-phospholipid Ab(+)
- Arthritis(+)
Final
diagnosis:
- Systemic lupus erythematosus with CNS
involvement
- Antiphospholipid syndrome
<
Analysis>
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(demyelination)¡B¤Îgliosis¡C¯f¤Hªº¯gª¬¥i¯à½w¸Ñ¡B´_µo©ÎªÌ«ùÄòªº´c¤Æ¡C
¦hµo©Êµw¤Æ¯g©M¤j¦h¼Æ¦ÛÅé§K¬Ì¯e¯f¤@¼Ë¡A¤k©Ê©~¦h¡A¨k¤k¤ñ¬ù¤@¤ñ¤G¡A¦nµo¦~ÄÖ¬ù20~40·³¡C¯f¤Hªº¦å¤¤¥i¯à¦s¦b¤@¨Ç¹ï§ÜÅèÀT§Ü쪺¦ÛÅé§ÜÅé¡A¨Ò¦panti-MOG§ÜÅé(myelin
oligodendrocyte glycoprotein)¡CÁ{§É¯gª¬ªº¥X²{¥i¯à¬Oabrupt©Îinsidious¡C
¦hµo©Êµw¤Æ¯gªºÁ{§É¯gª¬¥]¬A¦Ù¦×µL¤O¡B¹B°Ê¤§«á¦Ù¦×§óµL¤O¡B¬Æ¦Ü¦ñÀHµÛpyramidal
signs¨Ò¦pspasticity¡Bhyperreflexia ¤ÎBabinski's
sign¡C¦¹¥~ÁÙ¦³ataxia¡Bµø¯«¸gª¢¡Bµø¤O´î°h¡B½Æµø¡B·Pı¯«¸g²§±`©Î³à¥¢¡B¯t·w¡B»H¯Ö¤Î¤j¸z¥\¯à¥¢±`¾ÉPµLªk¸Ñ§¿¡B§¿¥¢¸T©Î«K¯µµ¥µ¥¡C
ªí¤@¡GInitial symptoms of MS
Symptom |
Percent of cases |
Symptom |
Percent of cases |
Sensory loss |
37 |
Lhermitte |
3 |
Optic neuritis |
36 |
Pain |
3 |
Weakness |
35 |
Dementia |
2 |
Paresthesias |
24 |
Visual loss |
2 |
Diplopia |
15 |
Facial palsy |
1 |
Ataxia |
11 |
Impotence |
1 |
Vertigo |
6 |
Myokymia |
1 |
Paroxysmal attacks |
4 |
Epilepsy |
1 |
Bladder |
4 |
Falling |
1 | Source:
Harrison's principles of internal medicine 16th ed. P2462.
ªí¤G«h¬O¦hµo©Êµw¤Æ¯gªº¶EÂ_¼Ð·Ç¡A¥Ø«eMRI¤w¬O¶EÂ_¦hµo©Êµw¤Æ¯g¥²³ÆªºÀˬd¤u¨ã¡C
ªí¤G¡GDiagnostic criteria for MS
- Examination must reveal objective
abnormalities of the CNS.
- Involvement must reflect predominantly disease of white
matter long tracts, usually including
(a) pyramidal pathways,
(b) cerebellar pathways,
(c) medial longitudinal fasciculus,
(d) optic nerve, and
(e) posterior columns.
- Examination or history must implicate involvement of two or more areas of the CNS.
- MRI may be used to document a
second lesion when only one site of abnormality has been
demonstrable on examination. A confirmatory MRI must have
either four lesions involving the white matter or three
lesions if one is periventricular in location. Acceptable
lesions must be >3 mm in diameter. For patients older
than 50 years, two of the following criteria must also be
met: (a) lesion size>5mm, (b) lesions adjacent to the
bodies of the lateral ventricles, and (c) lesions present
in the posterior fossa.
- Evoked response testing may be
used to document a second lesion not evident on clinical
examination.
- The clinical pattern must consist of
(a) two or more separate episodes of worsening involving
different sites of the CNS, each lasting at least 24 h and
occurring at least one month apart, or (b) gradual or
stepwise progression over at least 6 months if accompanied
by increased IgG synthesis or two or more oligoclonal bands.
MRI may be used to document dissemination in time if a new
T2 lesion or a Gd-enhancing lesion is seen or more months
after a clinically isolated syndrome.
- The patient's neurologic condition
could not better be attributed to another disease.
Diagnostic
categories
-
Definite MS: All five criteria
fulfilled.
-
Probable MS: All five criteria
fulfilled except (a) only one objective abnormality despite
two symptomatic episodes or (b) only one symptomatic
episodes despite two or more objective
abnormalities.
-
At risk for MS: Criteria 1, 2, 3,
and, 5 fulfilled; patient has only one symptomatic episode
and one objective abnormality.
§ÜÁCà¯gÔ¸s(antiphospholipid syndrome,
Hughes syndrome)©ó1983º¥ý¥Ñ^°êG.R.V.
Hughes±Ð±Â©Ò´yz¡A¾ú¸g¦h¦~¬ã¨s¤Î°ê»Ú·|ij°Q½×¡A©ó1999¦~´£¥X§ÜÁCà¯gÔ¸sªºpreliminary
classification criteria¡A¦pªþªí¡G(Arthritis
Rheum 42: 1309, 1999)
§ÜÁCà¯gÔ¸s¦]¬O§_¦ñÀH¨ä¥L¦ÛÅé§K¬Ì¯e¯f¤§¦³µL¦Ó¤À¬°ìµo©Ê¤Î¦¸µo©Ê¡A¦¸µo©Ê§ÜÁCà¯gÔ¸s¸g±`¦ñÀHµÛ¨t²Î©Ê¬õ´³¯T½H¡C¨äÁ{§É¯S¼x¥Dn¬OÀR¯ß©Î°Ê¯ß¦å®ê©Î¬y²£¤Î¦å¤¤¦³¦s¦b§ÜÁCà§ÜÅé¡CÁ{§É¯gª¬¨Ì¦å®êµo¥Í³¡¦ì¦Ó¦³¤£¦P¯gª¬¡A¨Ò¦p¸£¤¤·¡BªÍ®ê¶ë¡B¸z¤lÃa¦º¡B«æ©ÊµÇ°IºÜ¡B«æ©Ê¤ß¦Ù±ð¶ëµ¥µ¥¡A°£¦¹¤§¥~¦³¨Ç¯f¤HÁÙ·|¥X²{ºôª¬«C´³(livedo
reticularis)¡B¦ÛÅé§K¬Ì·»¦å©Ê³h¦å¡B»RÁЯg¡BªÍ°Ê¯ß°ªÀ£¡B¤ßŦ佤¯fÅܤް_¤ß°IºÜµ¥¡A¹êÅç«ÇÀˬd°£¤F§ÜÁCà§ÜÅé¥~¡A¦³®É¥i¬Ý¨ì¦å¤pªO§C¤U¡B§Ü®Ö§ÜÅ鶧©Ê¡B§Ü¥h®ñ®Ö¿}®Ö¥Ì»Ä§ÜÅ鶧©Ê¡B³J¥Õ§¿¡BVDRL¶§©Êµ¥¡C¥»¯f¨Ò§ÜÁCà§ÜÅéIgG°ª¹F79
GPL/ml¡A¦]¦¹¯f±w¥i¯à¦X¨Ö¦³¦¸µo©Ê§ÜÁCà¯gÔ¸s¡C¤£¹L¨Ì¾Ú¼Ú¬w1000¦ì§ÜÁCà¯gÔ¸s¯f¤Hªº²Îp¸ê®Æ¡A§ÜÁCà¯gÔ¸s¸û¤Öµo¥Ímyelopathy
(0.4%)¤Îµø¯«¸g¯fÅÜ (0.1%)¡C
¨t²Î©Ê¬õ´³¯T½H¨Ö¤¤¼Ï¯«¸g¨t²Î«I¥Ç¡A¥Dn¤À¬°¯«¸g(neurological)¤Îºë¯«
(psychiatric)¨â¤è±¡AÁ{§É¯gª¬¥]¬AÅöíw¡BÀYµh¡B¸£¤¤·¡B¸£¥X¦å¡BJ¨¥¶Ã»yµ¥µ¥¡A¦¹¥~¦³®É·|¤Þ°_tranverse
myelitis¡A³y¦¨paraplegia¡A¬Æ¦Ü©I§l°IºÜ¡C
¥»¨Òè¶}©l¦]µø¯«¸gª¢³QÃhºÃ¬O¦hµo©Êµw¤Æ¯g¡A¨Æ¹ê¤W«Ü¦h¦ÛÅé§K¬Ì¯e¯f¨Ò¦p¨t²Î©Ê¬õ´³¯T½H¡B×®æ³s¯gÔ¸sµ¥³£¥i¯à¤Þ°_µø¯«¸gª¢¡C¦]¦¹¥²¶·±q¹êÅç«ÇÀˬdªºµ²ªG¤Îªø´Á°lÂܯfµ{¤~¯à½T©w¯f¤Hªº¶EÂ_¡C
¦hµo©Êµw¤Æ¯g¡B§ÜÁCà¯gÔ¸s¤Î¨t²Î©Ê¬õ´³¯T½H¨Ö¤¤¼Ï¯«¸g¨t²Î«I¥Çµ¥¤TºØ¯f¡A¨äÁ{§É¯gª¬«D±`¬Û¦ü¡A«ÜÃøŲ§O¶EÂ_¡CG.R.V.
Hughes±Ð±Âµ¥¾ÇªÌ©ó2005¦~©óRheumatology³o¥»Âø»xµoªí¤F¤@½g¤å³¹¡A±´°Q¤TªÌ¤§¶¡ªº®t²§¡A¨äµ²½×¦pªþªí¡G(Rheumatology
44:434-442, 2005)
MS: multiple sclerosis PAPS:
primary antiphospholipid syndrome NPLE/APS:
neuropsychiatric lupus
with/without APS
Reference:
-
Harrison's Principles of Internal
Medicine,
16th ed.
-
Ferreia S, D'Cruz DP, Hughes GRV:
Multiple sclerosis, neuropsychiatric lupus and
antiphospholipid syndrome: when do we stand? Rheumatology
2005; 44:434-442
-
Kelly's Textbook of Rheumatology,
7th ed.
|