< Presentation of Case >
A 57-year-old man had been in his usual state of health until approximately 6 months prior to this evaluation, when he started to develop thickening of the skin over both hands from the fingertips to the wrists, forearms and arms, and from the ankles to the knees, for which a diagnosis of systemic sclerosis, diffuse type, was made at an outside Rheumatology clinic. A serologic test revealed positive anti-SCL 70 (>1:320). His skin condition progressed gradually to involve the whole body, which limited the range of motion of all hand joints over the following 3 months. He also developed swallowing difficulty. Treatment with prednisolone (5 mg) 1# bid, hydroxychloroquine (200 mg) 1# bid and penicillamine (300 mg) 1# bid was begun.
He began to experience shortness of breath without exertion and mild productive cough 3 days earlier before this admission. There was no fever. Pneumonia was suspected at the emergency room (ER) at this hospital, but patient declined to be hospitalized. Oral levofloxacin was prescribed. However, dyspnea worsened, and he returned to the ER. Hypoxic respiratory failure ensued shortly after he arrived at the ER, and he was intubated.
On physical examination, the consciousness was clear and oriented; the temperature was 36.1 ℃, the pulse rate 111 beats per minute, the respiratory rate 25 breaths per minute, and the blood pressure was 222/135 mmHg. Jugular veins were distended and breath sounds were coarse with diffuse crackles. His skin was sclerotic generally. All of the hand joints were limited in the range of motion. His abdomen was soft and flat without tenderness. The liver and spleen were impalpable. Bowel sounds were normal.
Chest radiographs showed bilateral pleural effusions and increased infiltration. (Fig 1)
< Laboratory Data >
|
WBC
/ul |
RBC
M/ul |
Hb
g/dl |
MCV
fl |
PLT
K/ul |
Day 1 |
13930 |
3.63 |
11.6 |
33 |
62 |
|
Seg |
Eos |
Bas |
Lym |
Mono |
Day 1 |
73.0 |
0.7 |
0.3 |
18.9 |
7.1 |
|
BUN
mg/dl |
Cre
mg/dl |
Na
nM |
K
nM |
|
Baseline |
8 |
0.5 |
|
|
Day1 |
63.3 |
2.8 |
135 |
4.2 |
Day2 |
80.4 |
3.9 |
|
|
Day3 |
118 |
5.7 |
135 |
3.7 |
Day4 |
134 |
6.8 |
135 |
4.4 |
Day5 |
137 |
7.3 |
136 |
4.8 |
Day6 |
146 |
8.8 |
133 |
5.2 |
|
alb
g/dl |
GOT
U/L |
GPT
U/L |
CRP
mg/dl |
Day1 |
2.2 |
36 |
38 |
4.4 |
|
PH |
PaCO2
mmHg |
PaO2
mmHg |
HCO3
mEq/L |
BE
mEq/L |
Day 1 (NRM) |
7.27 |
47.8 |
72.4 |
21.6 |
6.4 |
Urine analysis
|
PH |
Sp. |
Protein
mg/dl |
O.B |
Glu
g/dl |
Bil |
Urobil.
EU/dl |
Day1 |
5.0 |
1.01 |
30 |
3+ |
- |
- |
0.1 |
|
WBC
/HPF |
RBC
/HPF |
Epi
/HPF |
Cry |
Cast
/LPH |
Day1 |
10-15 |
50-60 |
0-5 |
- |
- |
< Treatment Course >
On admission to the intensive care unit (ICU), Augmentin (amoxicillin/clavulanate) was begun and nitroglycerin was infused by vein due to persistent high blood pressure (>200/130 mmHg). Acute renal failure and metabolic acidosis were noted, for which hemodialysis was instituted. He underwent renal biopsy and the result was compatible with nephropathy related to progressive systemic sclerosis. Steroids and angiotensin-converting enzyme (ACE) inhibitor were added. He was extubated 7 days later, but his renal function did not recover 1 month later.
< Discussion >
全身性硬化症是一種少見、慢性、並且會影響到多重器官的疾病，屬於全身性自體免疫疾病之一。 到現在為止並沒有單一項的實驗室檢查可以確診全身性硬化症，診斷只能靠詳細的病史詢問及身體檢查獲致。Systemic sclerosis 可分為兩個subtype, diffuse systemic sclerosis 以及limited systemic sclerosis， 兩者最主要的分別是皮膚硬化範圍程度的不同。Diffuse type systemic sclerosis病人有對稱且廣泛性的遠端和近端肢體硬化，甚至臉部、軀幹皮膚硬化，皮膚變化進展迅速，常在早期就侵犯內臟如消化道、肺或腎臟。而limited type systemic sclerosis則常侵犯肢體遠端和臉部皮膚，皮膚變化進展較慢，內臟受侵犯的時間較晚。
根據 American College of Rheumatology, systemic sclerosis診斷標準包括thickened (sclerodermatous) skin change proximal to the metacarpophalangeal joints, 或是下列至少其中兩項符合 sclerodactly，digital pitting scars，和bilateral basilar pulmonary fibrosis 。
自體抗體 (autoantibody) 在幾乎所有全身性硬化症病人中皆可驗出（>95%)，其中抗核抗體（anti-nuclear antibody; ANA)是最常見的。ANA對全身性硬化症並無專一性，也可以在其他全身性自體免疫疾病（如紅斑性狼瘡，類風濕性關節炎）或自體免疫相關疾病（橋本氏甲狀腺症; Hashimato thyroiditis）檢出。除此之外，慢性炎症（如chronic hepatitis C) 以及10％的正常人也可驗出ANA。至於 抗centromere antibody (anti-centromere antibody)可以在20-40％的limited type 全身性硬化症測得，這些病人被認為較易有肺動脈高壓。抗topoisomerase antibody (anti-topoiosemerate antibody anti-SCL70) 可以在20-40％的diffuse type 全身性硬化症測得，這些病人的臨床特徵是被影響皮膚範圍較大，容易合併 interstitial lung disease 以及較差的預後。
雖然皮膚的表現是全身性硬化症主要的診斷依據，其他器官也會被影響到，包括肌肉關節，腸胃道，心臟以及腎臟等。臨床上如果腎臟被影響，通常預後較差。其中scleroderma renal crisis 約在10％的病人發生，臨床表現常為突發性的malignant hypertension,高血壓網膜病變，頭痛，肌酸酐快速上升，一旦沒有治療，很快就會導致腎衰竭以及死亡。這些病人的腎臟切片可以看到intimal hyperplasia 及cortical artery vasospasm，導致renin-angiotensin system 活化而使血壓快速上升，合併蛋白尿及microscopic hematuria。危險族群常是那些皮膚症狀較廣泛以及自體抗體活性高者，也因此這些病人即使沒有明顯的腎功能異常，也建議必須規則測量血壓及監測腎功能。對於 scleroderma renal crisis 的病人優先選擇的降壓藥物為ACE inhibitor 。
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Case Discussion
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