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Graves' orbitopathy in a patient with adrenoleukodystrophy after bone marrow transplantation

¹ Department of Ophthalmology, Orbital Center, University of Amsterdam, Room D2-436, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands² Department of Ophthalmology, Haémek Medical Center, Haifa, Israel³ Department of Experimental Pathology, Medical Biotechnologies, Infectivology and Epidemiology, University of Pisa, Pisa, Italy⁴ Bone Marrow Transplantation Unit, Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands⁵ Department of Endocrinology, University of Amsterdam, Amsterdam, The Netherlands

(Correspondence should be addressed to L Baldeschi; Email: leliobaldeschi{at}libero.it)

Abstract

Objective: For many years, the treatment of X-linked childhood cerebral adrenoleukodystrophy (XALD) consisted of hydrocortisone replacement and a mixture of short chain-fatty acids, known as ‘Lorenzo's oil’. Recently, bone marrow transplantation (BMT) has also been used.

Case report: We report the case of a patient affected by XALD who developed Graves' hyperthyroidism (GH) and Graves' orbitopathy (GO) after BMT and who we could follow-up for 6.5 years afterwards.

Evidence synthesis: A boy affected by XALD was treated at the age of 6 years, with a whole BMT from his sister. One year after BMT, the transplanted patient presented TSH at the lower normal value and 3 years later he developed thyrotoxicosis. After a further 2 years, the patient developed GO, which showed clinical evidence of reactivation 5 years after its onset as a consequence of an attempt to treat thyrotoxicosis by means of I¹³¹ (300 MBq). Seven years after BMT, the donor showed alterations of thyroid autoimmunity and 1 year thereafter she developed GH. She never presented GO during a subsequent 5 year follow-up.

Conclusions: This case illustrates that autoimmunity originating from a pre-symptomatic donor can be transferred into the host during allogeneic stem cell transplantation. In cases where autoimmune phenomena are recognized in the donor prior to donation, alternative donors or T-cell manipulation of the graft might be considered.