So, those of you who read here often know that my latest adventure in medicine involves my parathyroid glands--those four small entities behind the thyroid that control calcium metabolism in the body (calcium must be kept in a rather narrow range serologically for proper nerve and muscular control) by producing parathyroid hormone is a typical endocrine feedback loop.

When we last looked in on our intrepid hero, persistent high normal to slightly abnormal serum calcium levels prompted his endocrinologist, who had already been yelling at him for a slightly elevated hemoglobin A1c level and monitoring his (so far benign by biopsy) thyroid nodules had prompted her to have get tested for parathyroid hormone levels and ionized calcium levels (the latter a more accurate level of active calcium in the bloodstream), and surprise, he showed up somewhat, though not greatly, elevated on both. Further investigation revealed a higher than normal 24-hour urine calcium clearance and a DXA bone scan showed signs of osteopenia, and a thyroid ultrasound showed stable thyroid nodules but a possibly enlarged lower left parathyroid gland. Supposition--higher than normal hormone level from the enlarged parathyroid was signalling for increased blood calcium concentration, and this was being leached from the bones. And we don't want fragile bones.

The decision was reached to try to deal with this before calcium levels went any higher. Generally, these cases are caused by an adenoma (benign tumor) of a single parathyroid which overproduces hormone. Sometimes there are multiple adenomas, or less frequently just benign hyperplasia (cell proliferation) without tumor. This can sometimes be difficult to distinguish, even for experienced pathologists, but in any case the offending glands are removed--people can get by with only one parathyroid, or even half of one, the idea being to remove whatever is overproducing hormone.

In my case, surgery occurred 2/22/13. Upon poking around in there, the surgeon discovered not only that the lower left parathyroid was enlarged, but the lower right one was (somewhat less) enlarged, and the upper left one a bit enlarged. It was decided to take out the two lower ones.

Surgery was uncomplicated (no overnight stay), recovery uneventful (other than some technicolor bruising in the lower neck/upper chest for about a week). The pathology report indicted merely hyperplasia--no adenomas or other tumors found. There's a good news/bad news aspect to this--no tumors is always a good thing, but the multiple gland involvement means the others might also enlarge to the point at which a second surgery may be needed down the road. Moreover, multiple gland hyperplasia, combined with my mother's history of this--she had one parathyroid with adenoma removed twelve years ago, and was fine after (though she recently passed of complication of chronic obstructive pulmonary disease--COPD--lifelong smoker)--makes it more likely I need to be investigated for possible familial endocrine syndromes. I doubt I have some of the nastier multiple endocrine gland ones--these would have shown up with other symptoms by my age, most likely--but there are isolated familial parathyrroid syndromes described in the literature (some of which seem to involve the CDC73 gene), and with ongoing human genome advances--let's say I've become an interesting patient again.

Accordingly, I've been scheduled for follow-up with a clinical/research endocrinologist and his team at Columbia University/Presbyterian Medical Center (the operation was done there AND they're connected to the Cornell Weill group that worked on my unusual neuropathy presentation) to see what type of genetic testing is possible (my brothers may need to be involved, as my parents are gone and cannot be sampled). I may fall into a known entity, or perhaps a novel thing may be discovered, or maybe not . . .

Anyway, thanks for letting me write--and now you all know more genetic endocrinology than most doctors.