Not too long ago, NIH introduced its Genetics Home Reference pages to the 21st century. Now, you no longer have to feel like you’re wadding through Geocities when you’re doing your research.
I’m bizarrely excited about this.
Call me shallow, but despite the NIH being one of our greatest resources—especially in terms of rare diseases—its poor site management was legitimately distracting.
And when you’re trying to find good information on your condition, the last thing you want is distraction or difficulty finding the information you need.
Case in point: my distracting tangents are keeping you from relevant information about my topic for the day: hyperparathyroidism.
Let’s get to it.
Familial isolated hyperparathyroidism (or just “hyperparathyroidism” for short), is an inherited disorder.
Benign tumors form on the parathyroid glands, which control calcium levels in the blood. With the tumor, the hormone regulating the calcium goes into overdrive and calcium levels skyrocket.
Symptoms caused by the calcium imbalance include fatigue, bone thinning, kidney stones, nausea, and weakness.
Those are the basics of the condition. You can read the (semi-)newly renovated NIH page for complete information on hyperparathyroidism, but here are a few highlights:
- The name is both straight-forward and misleading: Even though they sound similar, hyperparathyroidism is not the same as the more common hyperthyroidism. In fact, hyperparathyroidism affects an entirely different organ.
- Hyperparathyroidism has a genetic basis: Unfortunately, despite what comics would have you believe, most mutations do not give you powers. In this case, mutations in the CDC73, CASR, and MEN1 genes contribute to hyperparathyroidism, though each in its own unique way
- Cancer can be involved, but rarely: The tumor at the root of hyperparathyroidism is benign. However, those with the condition very occasionally develop a malignant carcinoma. Definitely something to be aware of!
For anyone unfamiliar with the diagnosis—or newly diagnosed and looking for some basic answers—trust me, I feel you! I’m very familiar with thyroid conditions, but this condition is something different for me.
Luckily, there are helpful (and helpfully designed) websites like the NIH to give you the details.
What additional resources do you rely on for hyperparathyroidism information? Make a list in the comments!