Setting: office
CC: “My face and hands are getting tight.”
VS: BP: 152/94 mm Hg; P: 86 beats/minute; T: 98°F; R: 22 breaths/minute
HPI: A 43-year-old woman with progressive immobility of her fingers and tightening of her face visits you in your office. She is also somewhat short of breath but only with two to three blocks of exertion. She does not notice the dyspnea often because joint pain makes her avoid walking.
PMHX:
Hypertension
Raynaud disease
Medications:
Nifedipine
PE:
Chest: fine crepitations throughout
Extremities: sclerodactyly, edema of lower extremities
Skin: tightening at face and hand, no Raynaud disease now; some telangiectasia present
Which of the following tests is most likely to be positive?
a. SCL-70
b. Anti-centromere antibody
c. ANA
d. Antineutrophil cytoplasmic autoantibody (ANCA)
e. Anti-Jo
Answer c. ANA
As with many autoimmune disorders, ANA is most likely to be positive, but has no specificity. ANA is positive in 80% to 95% of those with scleroderma, which gives it a false negative rate of only 5% to 15%. Anti-Jo reveals lung involvement in polymyositis and dermatomyositis.
Calcinosis: mechanism unknown
Sclerodactyly: mechanism unknown
Scleroderma + High BP = Angiotensin-Converting Enzyme (ACE) Inhibitors
Initial Orders:
SCL-70
ANA
Chest x-ray
Oximeter
CHEM-7, CBC
Enalapril
Nifedipine is best for Raynaud disease.
SCL-70 is an antibody against topoisomerase III.
See the patient as soon as possible after starting the ACE inhibitor. Chemistry should be checked to see there is no worsening of renal function.
Interval History: “Patient has epigastric pain going into chest with sore throat and bad taste in mouth.”
VS: BP: 124/84 mm Hg on enalapril
On CCS, you cannot order medications by class. You have to write “enalapril” or “lisinopril.” You cannot just order “ACE inhibitor.” Do not worry about spelling. CCS automatically checks spelling and asks if you are sure that is the drug or test you wanted.
Reports:
SCL-70: positive
ANA: positive
Chest x-ray: normal
Oximeter: 96% saturation on room air
CHEM-7, CBC: normal except slight anemia; hematocrit 34%; mean corpuscular value (MCV) normal; no eosinophilia
Eosinophilic Fasciitis
Thick Skin +
Orange Color +
Worse on Exertion +
Eosinophils =
Treat with Steroids
Inform the patient she likely has gastroesophageal reflux disease (GERD). Patients with scleroderma have the skin manifestations before the internal organ involvement.
What is the main difference between CREST and scleroderma?
a. GERD
b. Telangiectasia
c. Lung and heart
d. Pulmonary hypertension
e. Calcinosis and sclerodactyly
Answer c. Lung and heart
Scleroderma or progressive systemic sclerosis has all the manifestations of CREST and also has the involvement of several internal organs. Scleroderma involves the heart, lungs, and kidneys. CREST has a primary pulmonary hypertension, but the lung parenchyma itself is normal. In scleroderma, the pulmonary hypertension is secondary to lung fibrosis. Both disorders have joint pain and skin manifestations.
Scleroderma has:
• Renal
• Heart
• Lung
Orders:
Omeprazole
Continue ACE inhibitor and nifedipine
Although the underlying pathology and disease progression of scleroderma are not an emergency, the symptoms of GERD, elevated BP, and Raynaud disease can be controlled.
Interval History: “Epigastric pain and bad taste in mouth are improved on PPIs; BP 124/78 mm Hg.”
Which manifestation of scleroderma can be slowed with treatment?
a. Calcinosis and sclerodactyly
b. Pulmonary fibrosis
c. Renal fibrosis
d. Cardiac fibrosis
Answer b. Pulmonary fibrosis
We do not have a clear treatment to stop the progression of skin calcinosis or sclerodactyly. Pulmonary fibrosis may be slowed with cyclophosphamide or mycophenolate. Although we use ACE inhibitors for renal hypertensive crisis, this is not the same as controlling the primary renal fibrosis or the cardiac fibrosis. Pulmonary hypertension can be treated with bosentan and the prostacyclin analogues epoprostenol, treprostinil, and iloprost. Overall, treatment in scleroderma is extremely frustrating. We have symptomatic therapy for Raynaud disease (i.e., calcium channel blockers) and GERD but no clear drugs to stop the underlying pathology of the skin, heart, or kidneys.
Orders:
Pulmonary function testing
Penicillamine is not effective in controlling calcinosis.
Bosentan inhibits endothelin-1.
Prostacyclin dilates pulmonary vasculature.
The patient returns for discussion of her pulmonary function tests (PFTs). Symptoms of dyspnea slowly progress.
PFT Report:
Decreased forced expiratory volume at 1 second (FEV1); decreased forced vital capacity (FVC)
Decreased residual volume; decreased total lung capacity
Which of the following is the most accurate test of lung involvement?
a. PFTs
b. Diffusing capacity of the lungs for carbon monoxide (DLCO)
c. Lung biopsy
d. Right-sided heart catheterization response to vasodilators
e. High-resolution chest computed tomography (CT)
Answer c. Lung biopsy
Pulmonary involvement is present in 70% of those with scleroderma. Lung biopsy is simply the most accurate of all these methods at establishing a diagnosis. Right-sided heart catheterization may be useful to assess response to vasodilatory treatment, but it is not a direct assessment of interstitial lung disease. This is how you are going to tell the need for cyclophosphamide.
The patient undergoes PFTs, high-resolution CT, and ultimately lung biopsy. A trial of cyclophosphamide and bosentan is made. Ultimately, scleroderma does shorten lifespan, but there is no clear therapy to reverse any manifestation on a permanent basis.