Professor Márta Korbonits is the Chief Investigator for the NIHR Clinical Research Network supported familial pituitary adenomas study (AIP) which is investigating the cause, the clinical characteristics and family screening of this relatively recently established disease group.
Please tell us about the condition in layman’s terms?
Pituitary adenomas are benign tumours of the master gland of the body, the pituitary gland. It is found at the base of the brain. The most commonly identified adenoma type causing familial disease makes excess amounts of growth hormone, and if this starts in childhood the patient have accelerated growth leading them to become much taller than their peers. This condition is known as gigantism.
How rare is this condition?
Pituitary adenomas cause disease in 1 in a 1000 person of the general population. About five to seven percent of these cases are familial pituitary adenomas.
How it is normally diagnosed?
There are different types of pituitary adenomas causing quite varied diseases. Gigantism and its adult counterpart acromegaly is usually diagnosed due to rapid growth, headaches, joint pains, sweating, high blood pressure and visual problems. Pituitary adenomas grow slowly and it usually takes 2-10 years before they get diagnosed. The diagnosis finally is made by blood tests measuring hormones, such as growth hormone, and doing an MRI scan of the pituitary area.
What is the study aiming to find out?
The fact that pituitary adenomas can occur in families relatively commonly was not recognised until recently. Our study introduced testing for gene alterations in the AIP (Aryl Hydrocarbon Receptor Interacting Protein) gene in the UK, and identified until now 38 families with 160 gene carriers via screening. We also aim to identify the disease-causing genes in our other families as well.
How will it benefit patients?
The screening and early treatment of patients can have a huge benefit to patients as earlier treatment will lead to less complications and better chance to recovery. We hope we can stop the abnormal growth spurts therefore avoiding gigantism. Patients that are screened will find out if they carry the AIP gene and whether they are likely to pass on the gene to their families. For most patients, knowing they have a gene abnormality also helps them to understand and accept their condition.
How will it change practice?
As knowledge of the condition becomes more understood, genetic testing of patients to screen for AIP changes should be more commonplace. Patients can be treated knowing they have this condition, and family members who are carriers of the gene can benefit from MRI scans to monitor their pituitary gland and annual hormone tests.
How did the NIHR CRN support the study?
The familial pituitary adenoma study is on the NIHR CRN Portfolio. The study’s association with NIHR has allowed the widespread assessment of the patients, has incentivised referrals from clinicians and raised awareness of both our study and the familial pituitary adenoma condition itself.
For more information contact NIHR CRN Communications Officer, Damian Wilcock on 020 3328 6705 or email damian.wilcock@nihr.ac.uk
Filed under: Cushing's, growth hormone, pituitary | Tagged: Acromegaly, AIP, Aryl Hydrocarbon Receptor Interacting Protein, Benign tumor, familial isolated pituitary adenoma, gigantism, growth hormone, pituitary, Pituitary adenoma, Pituitary gland |
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