Washington: Researchers have uncovered information about genetic mutations associated with a form of gigantism, which usually involves enlarged hands, feet, and facial features.
The discovery could lead to better screening for the disease, acromegaly, which stems from a benign pituitary gland tumour that can be deadly if left untreated, but which is difficult to detect until later stages when features become pronounced. Researchers located a 31-member aboriginal family that included individuals with acromegaly living in a mountainous region of Borneo, Malaysia when the effects of the family patriarch`s growing pituitary tumour necessitated medical treatment. A team including Van Andel Research Institute (VARI) investigator Bin Tean Teh and staff from the University of Malaya Medical Centre as well as Queen Elizabeth Hospital in Malaysia collected blood samples for testing.
"Researchers had recently found a mutation in the AIP gene associated with acromegaly," said Teh, "but we found that several family members who didn`t have visible symptoms of acromegaly had this mutation as well."
The later stages of acromegaly often produce enlarged hands and feet, protruding brows and lower jaws, a thick voice and slowed speech from swelling of vocal cords.
When diagnosed, the tumour and entire pituitary gland are usually removed, followed by hormone therapy for the rest of the patient`s life. However, because the progression of the disease is so gradual, it is difficult to detect. If left unchecked, patients can die from complications such as heart or kidney failure.
Well known acromegalics include wrestler actor André the Giant and motivational speaker Tony Robbins.
The prevalence of acromegaly is approximately 4,676 cases per million, and the incidence is approximately 117 new cases per million every year.