Fibrodysplasia Ossificans Progressiva: A rare disease

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder presenting with irreversible ectopic ossification of muscles, tendons and ligaments. The disease is characterised by generalized soft-tissue ossification and its estimated prevalence is 1.43 per million people.^1,2 Acute exacerbations usually result in heterotopic ossification (HO).³ By the age of 30 years, most patients are confined to wheelchairs.⁴ Many of the clinical manifestations resemble the premature aging phenotype.⁵ Death is usually caused by cardiopulmonary failure due to thoracic hypoplasia syndrome or pneumonia.⁶ A 28-year-old patient with FOP was admitted to our hospital with left shoulder, elbow, hip and knee pain with limitation of activity for 13 years. There was pain in the same right-sided joints with limitation of activity for 1 month. She had systemic HO and progressive disease of multiple joints diagnosed by X-ray and virtual reality (VR) imaging (Figs. 1 to 4).

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FIG 1.

Left humerus–ulna seen connected with long strips of bone

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FIG 2.

Multiple irregular high-density shadows are seen in the left ilium and femoral head, multiple small nodular hyperdense shadows fused to each other in the right hip projection area

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FIG 3.

Multijoint virtual reality imaging

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FIG 4.

Straightening of physiological curvature of cervical vertebrae with bony hypertrophy and fusion of multiple spinous processes, and visible striated high-density shadow

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There is no treatment that can cure the disease or stop its progression, and management is mainly symptomatic. In the active stage of FOP, all invasive procedures should be avoided, and after ruling out contraindications to the drug, tramadol hydrochloride extended-release capsules 0.1g po bid and etoricoxib tablets 60 mg po qid were given for symptomatic analgesia. Prednisone acetate tablets 20–40 mg were also given to relieve the inflammatory response.