Long Term Health Outcomes Of Adults With McCune Albright Syndrome

Summary

Context

McCune Albright Syndrome (MAS) is associated with numerous health problems. Comprehensive long term health problems of adults with MAS are less well defined in the literature.

Objective

Our objective is to report comprehensive health outcomes of adults with MAS (> 18 years).

Design

Retrospective case note review of 16 adults with MAS managed by one clinician. Results expressed as median (range)

Results

The study included 16 adults (7 males) with MAS. Median current age is 29 years (20, 46). Twelve out of 16 had craniofacial fibrous dysplasia with 5/12 (42%) with progressive facial asymmetry. Growth hormone excess was observed in 6/16 (38%) and T3-toxicosis in 5/16 (31.3%). Six of the 7 men (86%) had abnormalities on testicular ultrasound with one man exhibiting marked atrophy of germ and Sertoli cells with reduction in spermatogenesis. Six of the 16 (38%) had cardio-respiratory complications including high output cardiac failure (n,3) hypertension (n,2) and one man with congestive cardiac failure and restrictive lung disease. Six of 8 (66%) who had screening endoscopy for upper gastrointestinal polyps show increasing numbers of polyps, with benign histology to date. One woman with a previous history of early puberty presented with early aggressive breast carcinoma, which was positive for GNAS.Two patients had GNAS positive muscle myomas. Platelet dysfunction with bleeding tendency responsiveto platelet transfusion during surgery was seen in four.

Conclusion

A range of complex health problems is encountered in adults with MAS. These have important implications for transition of patients with MAS and adult care. Long term cancer risk is currently unknown but requires careful follow-up.

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