ssSSc is a subset of systemic sclerosis (SSc) in which patients present with typical vascular features and visceral fibrosis of scleroderma but without skin involvement. Visceral fibrosis in most patients involves gastrointestinal tract (GI) or combined lung and GI. Isolated lung involvement in ssSSc is uncommon. We report a patient with clinico-serological features of ssSSc in whom ILD was the only evidence of visceral fibrosis. This clinical presentation of ssSSc needs to be recognized by chest physicians.
50 year old woman complained of progressive dyspnea and unproductive cough of 1 year duration. She noted the tips of her fingers turn blue when exposed to cold. She denied any chest pain, syncope, dysphagia, joint pain or skin tightness. Examination revealed clubbing with abnormal nail fold capillaries without digital scars or ulcers and chest revealed bibasilar Velcro rales. Skin exam revealed no thickening or sclerodactyly. Blood count, electrolytes, renal and Liver function test were normal. ABG revealed pO2-64 on room air. EKG and ECHO were normal with normal pulmonary artery pressures. Chest X-ray revealed reduced lung volumes and bilateral interstitial changes. HRCT revealed a ground glass pattern with traction bronchiectasis in both lower lobes (see figure). Blood ANA was 1:640 with negative anti dsDNA and rheumatoid factor. Antibodies to topoisomerase 1 (scl-70) was positive and negative for anti RNP, centromere, smith antibodies. Esophagogram was normal. Patient’s FVC-1.5L (50% predicted), FEV1-1.38(58%) and V1/Vc ratio-72%, TLC-57% and DLCO-29%. After a 3 minute walk, her O2% dropped from 94% to 70%. A thoracoscopic biopsy of lung revealed Non specific Interstitial Pneumonia [NSIP] with a mixed cellular and fibrosing pattern (see figure). Tuberculin skin test was negative. Patient was started on steroids, calcium, vitaminD supplements and Home O2. She has completed 3 months of steroid treatment without improvement.
Rodnan et al first reported a case series of 4 patients with visceral scleroderma without skin involvement and first coined the term progressive ssSSc in 1962. It is important to recognize this entity as the pulmonary system is the second most common organ involved and rarely the only organ affected after the GI system. There is a debate as to whether ssSSc should be considered as a separate entity or should be included in the spectrum of SSc with limited cutaneous involvement (lcSSc). However it is important to recognize that differences existed with the lung involvement in these two groups of patients. Patients with ssSSc and lung fibrosis had a greater frequency of dyspnea with mild exertion or at rest and tendency towards greater reduction in DLCO (<70%) for equivalent radiographic changes. ssSSc patients also had higher incidence of and greater mortality due to pulmonary hypertension when compared to patients with lcSSc. Our patient’s clinical presentation of Raynaud’s phenomenon, lung fibrosis, positive ANA, Scl-70 and absence of skin involvement fulfills the clinical and serologic criteria of ssSSc and ours is the first patient to our knowledge where the histopathology has been defined as NSIP according to the recent classification of Idiopathic Interstitial Pneumonia.
ssSSc can rarely present with lung fibrosis as the only evidence of visceral involvement. It is important to recognize that ILD in patients with Raynaud’s phenomenon could well be a manifestation of ssSSc. Positive serology for scleroderma will confirm a diagnosis of ssSSc. Recognition of this fact will ensure a proper diagnosis especially in light of the fact that ILD in these patients is known to have adverse prognosis. Our patient illustrates that an adverse prognosis is likely irrespective of histologic subtype.
K. Kanagarajan, None.