From the Guidelines
Maffucci syndrome patients require comprehensive monitoring for endocrinopathies, including annual endocrine evaluations with hormone panels, due to the potential for pituitary dysfunction, thyroid abnormalities, and growth hormone deficiencies, as evidenced by the complex management of syndromes with increased risk of benign and malignant neoplasms 1. The management of Maffucci syndrome involves a multidisciplinary approach, considering the high risk of malignancy, including chondrosarcoma, and the potential for endocrinopathies. While the study by 1 focuses on cancer surveillance in rare syndromes, including Ollier disease and Maffucci syndrome, it highlights the importance of baseline whole-body MRI and routine monitoring of potential malignant transformation of bony lesions. In the context of endocrinopathies, patients with Maffucci syndrome should undergo regular screening for:
- Pituitary dysfunction
- Thyroid abnormalities
- Growth hormone deficiencies The recommended approach includes annual endocrine evaluations with comprehensive hormone panels measuring TSH, free T4, growth hormone, IGF-1, cortisol, and gonadal hormones. Specific endocrinopathies in Maffucci syndrome may include:
- Hypothyroidism, which can be treated with levothyroxine
- Growth hormone deficiency, managed with somatropin injections
- Hypocortisolism, treated with hydrocortisone Early detection and management of these endocrinopathies can significantly improve quality of life and prevent complications in affected individuals. The mutations in the IDH1 or IDH2 genes that cause Maffucci syndrome can affect cellular metabolism and epigenetic regulation, potentially disrupting normal endocrine function 1.
From the Research
Maffucci Syndrome and Endocrinopathies
There is limited information available on the relationship between Maffucci syndrome and endocrinopathies.
- Maffucci syndrome is a rare non-hereditary congenital condition characterized by the presence of multiple enchondromas and hemangiomas 2, 3.
- The available studies focus on the diagnosis, treatment, and management of Maffucci syndrome, as well as its association with malignant tumors 2, 3, 4, 5.
- However, one study discusses the treatment of somatostatin analog-refractory growth hormone-secreting pituitary tumors with pegvisomant alone or combined with long-acting somatostatin analogs, which may be relevant to endocrinopathies 6.
- This study suggests that pegvisomant and pegvisomant combined with somatostatin analogs are safe and effective solutions for managing acromegaly, but it does not specifically address Maffucci syndrome or its relationship to endocrinopathies 6.
- Overall, there is a lack of direct evidence linking Maffucci syndrome to endocrinopathies, and further research is needed to fully understand any potential connections between the two.