Gelsolin amyloidosis as a cause of early aging and progressive bilateral facial paralysis.

ABSTRACT

BACKGROUND: Gelsolin amyloidosis, or Meretoja disease, is a dominantly inherited syndrome in which the collection of amyloid leads to early aging, bilateral progressive facial paralysis, and corneal lattice dystrophy. Characteristically, the major symptoms appear in the fifth decade of life, with brow ptosis and blepharochalasis, drooping of the facial tissues, and oral disturbances. Indications and methods, as well as the results of plastic surgical treatment, seem varied. To better understand and operate on this challenging group of patients, the authors evaluated the surgical experience of their department. METHODS: From the surgical database, all patients operated on in the authors' department for gelsolin amyloidosis from 1986 to 2004 were included. Disease severity was evaluated, together with data on the course of surgery, complications, and results. RESULTS: During 1986 through 2004, 35 gelsolin amyloidosis patients underwent surgery, totaling 67 operations and 95 procedures; 89 percent consulted a plastic surgeon for brow ptosis or blepharochalasis, 15 percent for problems in oral function, and 21 percent for ocular dryness or corneal ulcers. Total bilateral forehead palsy was noted in 63 percent, total unilateral palsy in 14 percent, and weakness of the frontal branch in 23 percent. The buccal branch was affected in 40 percent. Postoperative complications were observed in 31 percent and minor complaints in 60 percent. Two-thirds, however, seemed satisfied with the results. The majority required reoperations. CONCLUSIONS: Operative treatment of gelsolin amyloidosis is symptomatic. Due to relentless disease progression, a good functional and aesthetic result seems to require selected techniques and repeated surgery. Recognizing this underdiagnosed syndrome is essential.