A focus on Hypoparathyroidism
Rare Diseases Many people have heard of the thyroid gland, in fact, you may even know people with a thyroid issue but have you have heard of the parathyroid glands? Or hypoparathyroidism?
Located behind the thyroid, but not related in any way except by name, lie four parathyroid glands, each the size of a grain of rice. We have two of most things on the body but 4 parathyroid glands – that’s how vital they are. They monitor calcium which we can’t live without and they regulate it within the normal levels.
Low levels of parathyroid hormone (PTH) in the blood will cause low levels of calcium, low levels of calcitriol (active vitamin D) and high levels of phosphate. Not only that, it means that these levels can no longer be regulated automatically by the parathyroid glands. As calcium fluctuates constantly finding the right dose involves a lot of guess work.
Without PTH calcium levels constantly fall. This gives tetany and the unpleasant and frightening symptoms of a ‘hypo’ as calcium levels fall. If this is not treated in time, levels will ‘crash’. This is a life threatening crisis situation not unlike a diabetic hypo – but with no replacement hormone or home tester to help manage the constantly fluctuating levels.
The challenge of this rare condition is to maintain calcium levels low enough to protect the kidneys but high enough to prevent symptoms – an ongoing roller coaster for many. Over time, the condition can also lead to bone problems and renal failure, and quality of life for hypopara patients is generally poor.
Hypoparathyroidism is caused in various ways. Most commonly caused by damage to the parathyroids during neck surgery, other rarer forms may be congenital, inherited or autoimmune. Symptoms and treatment are the same in all types.
Specialist care and crisis treatment are vitally important for people living with hypoparathyroidism.
After surgery for thyroid cancer when she was 15 Isobel was left with permanent post-surgical hypoparathyroidism when all four parathyroid glands were inadvertently removed.
Like others with the condition, Isobel takes high doses of medication daily. The meds control her condition and keep her alive.
However, even with the medication, a patient’s blood calcium levels aren’t always stable. Nor does biochemical control always bring about symptom control. Patients experience problems even when the calcium bloods are in the normal range.
Isobel has had a series of hypocalcaemic crashes – where blood calcium levels crash quickly, resulting in cramps, severe confusion and even seizures and she must get to a hospital fast for emergency IV calcium.
Isobel’s worst crash happened in January 2012 which left her seriously traumatised, in shock and in hospital. All her muscles had painfully contorted, including her tongue, which meant she wasn’t able to move, communicate, swallow or eat. Fear was extreme. She survived but the experience took her over a year to recover (physically, emotionally and mentally), and for her bloods to eventually stabilise.
Like most people living with hypopara, her calcium must be regularly monitored and adjusted to try to maintain stability. It is an ongoing challenge - days are lost and a lot of time is spent trying to adjust meds as calcium levels fluctuate in response to exercise, food, stress, infection etc.
This situation is not uncommon even today and is a trauma which leaves a long shadow on a patient’s life as every hypo brings back the memory.
But Isabel fought back. Despite all this she has married, had a baby, and holds down a demanding job. Determined to give back she is now Hypopara UK’s deputy chair. ‘Life is for living, but we really do need help to live it’, says Isabel.
Vincent has a genetic form of hypoparathyroidism, caused by a calcium receptor mutation; Vincent's type is the second only reported case in the world.
Vincent started having throat spasms and seizures at 5 days old. He was found to have an extremely low serum calcium level. His local hospital followed emergency procedures, but his calcium kept falling.
Hypopara UK stepped in to recommend a specialist and Vincent was transferred to a major teaching hospital and had a pump fitted to deliver parathyroid hormone directly; this works like an insulin pump.
He is now maintaining stable calcium levels without supplements. He developed cataracts due to the severe hypocalcaemia, which have been removed successfully.
The future of the condition?
Hypoparathyroidism is a rare disease that needs constant monitoring, long-term management and life-long treatment. Poorly understood by the medical world, this condition means treatment and information has been hard to access for patients who must learn to self manage to prevent crises. Without blood testers this is challenging and frightening. Hypopara is also the only endocrine condition without a licensed hormone replacement.
Hypopara UK has been working hard to bring about change, to develop clinical guidelines for the medical community, advocate on behalf of patients, fundraise to develop clinical research and to support the hypopara community in managing their calcium levels.
Hopefully the next few years will see huge steps for hypoparathyroidism patients, as new clinical trials assess the safety of a synthesised form of PTH hormone and we campaign to have pumps like Vincent’s licensed for adult use; currently they are only licensed for children.
Hypoparathyroidism is a rare, life-threatening disease. However, with careful monitoring and support, most people with the condition lead full and healthy lives.
Hypopara UK are the only patient organisation for adults & children living with a parathyroid condition in the UK and Ireland. Diagnosing and living with a long term rare disease can be challenging and isolating but we're here to help you. We care about improving your quality of life so we raise awareness about our rare conditions, support new research, fundraise, and offer friendly support and reliable information about all types of hypoparathyroidism and hyperparathyroidism.