Family history in the management of endocrine diseases
Implications in thyroid – parathyroid surgery
There are at least 25 distinct familial syndromes affecting
endocrine organs that may lead to an operation at some point in that patient’s
life. Thyroid diseases, hyperparathyroidism, adrenal tumors and pancreatic
neuroendocrine tumors all have the possibility to be linked to some form of
heritable disorder. From a practical (clinical) point of view, the knowledge of
these genetic (familial) syndromes is very important, since may dictate:
-indication for surgery (sometimes prophylactic, i.e. before
the development of the disease)
-type and extent of surgical procedure
-type, amount and duration of follow-up
-type/amount of screening necessary for an individual
patient or an entire family
Without a thorough and accurate family history, for many
surgical endocrinopathies, a patient has not been completely worked up or cared
for appropriately.
A family history that is considered suspicious
is what currently triggers possible further genetic workup. As genetic testing
becomes more advanced, the ability to take clinical action using that
information will continue to develop. There is likely no better example of the
use of genetic testing for clinical-decision making than in the case of multiple
endocrine neoplasia (MEN) type 2. Today it is possible for genetic testing for
MEN2 to lead to a prophylactic thyroidectomy in a young child. This type of prophylactic
surgery is almost completely dependent on the particular type of mutation found
in the family (‘genetically’ - guided prophylactic thyroidectomy). There are
very few genetic syndromes so well characterized in any other specialty in medicine.
(SCNA)Family history in the management of endocrine diseases Implications in thyroid – parathyroid surgery
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