Proteus Syndrome

Proteus Syndrome

This article relates to No One Is Talking About This

Midway through Patricia Lockwood's novel No One Is Talking About This, the unnamed protagonist learns that her sister's baby has been diagnosed with Proteus syndrome. You might recognize this as the condition believed to have affected Joseph Merrick, the so-called Elephant Man, whose late-19th-century life has been dramatized in a 1979 play and a 1980 Oscar-nominated film.

Merrick's medical condition was not theorized to have been Proteus syndrome until nearly a century after his death. The condition was first reported in the late 1970s and is an extremely rare disorder, with only around 200 cases recorded worldwide. It is characterized by a highly variable and unpredictable overgrowth of skin, bones, muscles, fatty tissues and blood vessels.

Proteus syndrome is named after the Greek sea-god Proteus, who could see the future and change his shape at will, and who plays a role in Homer's Odyssey. Proteus was a "shepherd" for Poseidon's flocks of sea creatures, and he is Poseidon's son in some versions of mythological tales. His name is also the basis for the adjective "protean," meaning both able to change and versatile.

It is possible to diagnose Proteus syndrome before a child's birth based on ultrasound observations; however, most people with the condition do not carry any physical manifestations of it at birth. Instead, tumors and other atypical growth patterns are likely to arise in early childhood and continue progressing throughout an affected individual's lifetime. Those with the disorder have a reduced life expectancy due to its side effects, which include pulmonary embolisms and other blood clotting issues. They can also experience chronic pain and arthritis due to limb and organ overgrowth.

Proteus syndrome is caused by a mosaic variant in a gene called AKT1, a mutation that takes place during development rather than being inherited from a parent. Mosaicism occurs when a single individual has two or more genetically different cell sets in their body. In the case of Proteus syndrome, this appears to contribute to the highly variable characteristics of the disorder, as well as its mosaic, or patchy, presentation — affected and unaffected areas develop in a seemingly random pattern.

There is no single treatment for Proteus syndrome; rather, therapies are directed to the particular manifestations of the condition in patients and their specific medical needs. Some patients require multiple orthopedic surgeries to counteract bone overgrowth, especially when that growth interferes with joint function. A study appearing in the American Journal of Human Genetics suggests that a cancer drug, miransertib, can help control pain and lesions in people with Proteus syndrome. Like many rare diseases, Proteus syndrome is less well understood and intensively studied than better known disorders. Although there is no cure, ongoing research appears to be generally focused on improving quality of life for those affected by this condition.

Filed under Medicine, Science and Tech

This article relates to No One Is Talking About This. It first ran in the February 17, 2021 issue of BookBrowse Recommends.