Man with Rare Anti-Fibrillarin Systemic Sclerosis

Autoantibodies are reported in more than 95 percent of systemic sclerosis patients, and anti-fibrillarin antibodies represent a rare subtype associated with specific multi-organ risks and complications.

Clinical Presentation of Anti-Fibrillarin Systemic Sclerosis

The patient arrived at the hospital with progressive joint pain, swelling, reduced mobility, and an overall decline in physical function. These symptoms emerged following a two-year history of evolving dermatological changes that started as pruritic depigmented lesions on the scalp and back. The lesions gradually spread to the chest, upper limbs, groin, and genital region. Over the six months preceding admission, the patient developed progressive proximal muscle weakness that impaired his ability to climb stairs and raise his arms. He also exhibited reduced grip strength, painful fingertip fissuring, and growing difficulty managing daily activities. Additional symptoms included bilateral periorbital swelling, finger puffiness, morning eye discharge, and widespread joint pain affecting the shoulders, hands, and knees. He experienced exertional dyspnoea, pleuritic chest pain, and an unintentional weight loss of approximately five kilograms over one month alongside anorexia. Physical examination revealed widespread hypopigmented and sclerotic skin changes across the scalp, trunk, and upper limbs, accompanied by tightening over the fingers. The fingers also showed sclerodactyly, digital ulceration, puffiness, tenderness, peeling, and fissuring, alongside active synovitis and periorbital oedema.

Laboratory and Imaging Investigation Results

Initial laboratory evaluations demonstrated mild skeletal muscle injury and elevated cardiac biomarkers. Creatine kinase levels reached 331 units per liter against a reference range of 20 to 200 units per liter. High-sensitivity troponin peaked at 121 nanograms per liter before decreasing to 96 nanograms per liter, while N-terminal pro-B-type natriuretic peptide registered at 844 nanograms per liter. C-protein improved from 5 milligrams per liter to 1.3 milligrams per liter, and erythrocyte sedimentation rate remained within normal limits. Autoimmune testing showed that scleroderma extractable nuclear antigen panels were largely negative except for anti-fibrillarin antibody positivity. Cardiac magnetic resonance imaging confirmed mild perimyocarditis, while thigh magnetic resonance imaging revealed changes consistent with inflammatory myopathy.

Anti-Fibrillarin Antibodies Link to Severe Organ Involvement

Systemic sclerosis is a multiorgan connective tissue disorder classified into limited and diffuse cutaneous subtypes. Diffuse cutaneous disease typically carries a greater burden of internal organ involvement. Anti-fibrillarin antibodies represent a rare subtype frequently linked to renal crisis and cardiac involvement. Medical literature indicates this specific autoantibody subtype appears more commonly in African-American populations and correlates with severe pulmonary hypertension, bowel involvement, and poor prognosis. The case highlights significant diagnostic challenges when rare autoantibody profiles produce simultaneous inflammatory myositis and perimyocarditis within a multisystem connective tissue disorder.