Melorheostosis is a skeletal anomaly that presents as a progressive disease. It entered mainstream consciousness when one of the Big Brother 12 reality TV show contestants attempted to gain sympathy with it. Find out what’s behind the long name.
Melorheostosis on Big Brother
Reality Blurred outlines how a reality TV show contestant on Big Brother attempted to win the ‘sympathy vote’ by claiming that his wife suffered from melorheostosis (or bone thickening). The contestant made the mistake of outlining his ploy to assorted hearers – which in an environment with 24/7 camera access really did not remain a secret for long – who then took him to task.
Big Brother and reality TV fabrications notwithstanding, melorheostosis is a very real disease affecting the bones but also joints, soft tissues and even the skin. The University of California-Davis defines it as being “rare” – according to the Melorheostosis Association, the odds of having the disease are one in 1,000,000 — and not genetic.
Moreover, the disease can strike at any time and affect both genders. Researchers note changes that occur on the sides of a bone. A distinct buildup of matter gives the affected bone the appearance of having melted wax drip down the otherwise smooth surface. Not surprisingly, thickening of the bones is easily diagnosed with x-ray imaging.
Symptoms include stiffness of affected limbs and decreased ranges of motion that gradually result in visible deformity. Long bones most commonly fall victim to melorheostosis, but smaller bones are not immune from this progressive disease. In some cases even the ribs and skull can become affected.
Cause and Treatment Options
Orphanet explains that a mutation of the LEMD3 gene affects membrane protein production, which in turn leads to the previously described thickening and matter buildup on the bones.
Surgical removal of tissue buildup is one option that a team of physicians may consider. Extreme cases of melorheostosis can result in amputation. More benign cases benefit from the lengthening of tendons to help correct deformities caused by this progressive disease.
Other treatment options include occupational as well as physical therapy, hydrotherapy and medication to halt the bone changes. Pain medication helps relieve some of the discomfort associated with nerve pressure, although as the illness progresses, dosing may need to be adjusted upward and eventually prove to be insufficient.
Problems Associated with Melorheostosis Surgery
The Melorheostosis Association warns that even though surgery is indicated for this progressive disease, there is a good chance that the final outcome cannot be accurately anticipated. Bones affected by the disease heal differently than those that are healthy, which can lead to differing results even among patients presenting with similar symptoms.