A 34-Year-Old Woman with 2-Year History of Therapy-Resistant, Rapidly Progressive SSc Successfully Treated by Autologous Hematopoietic Stem Cell Transplantation

Abstract

A 34-year-old woman was referred for consideration for autologous hematopoietic stem cell transplantation (HSCT) for systemic sclerosis (SSc). She had enjoyed perfect health until 2 years previously when Raynaud's phenomenon occurred, fol-lowed over weeks by puffy hands and fatigue. Within months thickened skin on face, trunk, and extremities along with digital ulcers and dysphagia led to a diagno-sis of dSSc. Investigations revealed a positive ANA, positive anti-Scl-70 (topoi-somerase 1) antibody, and diminished peristalsis in the lower esophagus. Otherwise there was no evidence of major organ involvement: pulmonary function tests, HRCT of the chest, echocardiogram, Holter ECG monitor, and renal function were all nor-mal. Intravenous therapy with iloprost over 2 months was ineffective and associated with side effects, methotrexate at a maximum weekly dose of 20 mg over 9 months was ineffective, as was IVIg over the next 3 months followed by cyclophosphamide (CYC) 825 mg by monthly intravenous infusions to a total dose of 3.3 g. Physical Examination On examination there was hyperpigmentation and depigmentation of the skin (the patient is of Indian extraction) with loss of skin hair and sweat glands. The modified Rodnan skin score (mRSS) was 32/51. Flexion contractures were present at the elbows, fingers, and knees along with tendon friction rubs. Microstomia (interincisor distance 2.3 cm) was present. Pitting scars were present on several fingertips and ischemic ulceration of elbows and knuckles was noted. The acute phase reactants were elevated (ESR 30 mm/h; CRP 15 mg/L (normal <5)) and a repeat screening revealed no internal organ involvement.