Two of my sisters and I all have been diagnosed with primary hyperparathyroidism. I had parathyroid surgery at age 55 (two parathyroid tumors removed), my younger sister at age 58 (three parathyroids removed) and we are realizing my older sister has had it for years. We are now all mid 60's, early 70's. My younger sister who had 3 removed still has issues with the remaining gland...she doesn't know what to do. I believe we probably do have a genetic link and years ago I was told that my ovarian/uterine very early stage cancer at 43 could also be connected to some kind of genetic link to the parathyroid issue...is this the MEN 1 gene and if so where do you go to get tested for that?
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Thanks for writing in! Since you and two sisters have had high calcium levels, it is almost certain that there is a genetic component. There are a few important issues to address in your case before we get to your question.
First, were you cured after parathyroid surgery? Have your calcium levels stayed in the normal range (under 10.0 mg/dl) since your parathyroid operation? It sounds like your younger sister still has elevated calcium levels. If you have also had elevated calcium after your operation, then it could be that this is not primary hyperparathyroidism, but is a familial hypercalcemia syndrome such as FHH (familial hypocalciuric hypercalcemia). This is a genetic syndrome that is also diagnosed with genetic testing.
What kind of cancer did you have - uterine or ovarian? MEN1 rarely can be associated with benign uterine leiomyomas and with ovarian neuroendocrine tumors. These are not common tumors in MEN1, but there are case reports. MEN1 is more commonly associated with pituitary tumors and pancreatic endocrine tumors.
Regarding your older sister: it would be best to get genetic testing done prior to pursuing surgery for her, to have a better idea of what your surgeon will be dealing with (and potentially rule out FHH, which may not require surgery).
I do think that you need to have genetic testing. I would not test only for MEN1, but would include all of the genes associated with MEN syndromes, familial hyperparathyroidism, and familial hypercalcemia like FHH.
Here are the syndromes and genes that I would test for:
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MEN1: MEN1 gene
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MEN2: RET gene
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MEN4: CDKN1B gene
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Familial Hypocalciuric Hypercalcemia (FHH): CASR, AP2S1, and GNA11 genes
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Familial primary hyperparathyroidism: CDC73 and GCM2 genes
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Other genes that can cause hypercalcemia: CYP24A1, SLC34A1, and TRPV6 genes
Genetic testing used to be difficult to obtain, but this has changed in recent years. With sites like Invitae, your doctor can order the testing online (including all of the genes listed above) and the company will mail you a mouth swab test that you do from home.
