Familial proptosis and obesity in the Ptolemies

The Macedonian family of the Ptolemies (or Lagid dynasty) ruled Ancient Egypt from 323 BCE to 30 BCE, coming to power after the death of Alexander the Great. On coins and on sculptures, portrayals of members of this dynasty are notable for prominent eyes and necks,¹ and these features have been interpreted as representing familial Graves’ disease (Figure 1). However, in addition the dynasty was noted for consanguinity and a strong family history of morbid obesity.² These features have not hitherto been linked. Obesity is not a likely accompaniment of untreated hyperthyroidism, so what are the other possibilities? Craniosynostoses causing exophthalmos are unlikely in the absence of other craniofacial abnormalities; and proptosis in this family might be secondary to the obesity³ or even to familial amyloid with intraorbital involvement. The presence of neck masses, I suggest, may implicate a multiorgan fibrotic condition such as Erdheim-Chester disease or familial multifocal fibrosclerosis in which thyroiditis can coincide with obesity and proptosis.⁴

Figure 1.

Ptolemy II Philadelphus depicted on a coin (A) with his sister/wife Arsinoe II, who is also represented in the sculpture (B) British Museum, London.