Pseudohypoparathyroidism: Treatment, Cost and Side Effects

Pseudohypoparathyroidism is a rare genetic condition due to which the body stops responding to the parathyroid hormone. However, the hormone is present in normal levels in the body. Due to the malfunction, patients suffering from the disorder have growth and bone development issues.

There can be several symptoms caused by the condition, some of which are severe, while others are easier to handle. For instance, headaches, weakness, fatigue, blurred vision and hypersensitivity to light may be some of the less severe symptoms, while mental problems, short stature and an unusually round structure of the face are some of the severe effects of the condition.

Pseudohypoparathyroidism and hypoparathyroidism are often confused by people. However, there is a distinct difference between the two. The latter is a condition where the body does not produce enough parathyroid hormone, while the pseudohypoparathyroidism causes the body to stop responding to the same hormone, even when there is sufficient levels of it are present in the blood.

The parathyroid or PTH hormone is in charge of regulating the calcium and phosphate levels of the body. If the body is unresponsive to the hormone, the calcium levels become low in the blood and the phosphate levels are raised.

Pseudohypoparathyroidism is a genetic condition and there is no final cure for the disease at present. However, with proper medication and care, a patient may lead a relatively normal life. Treatment is mainly done using calcium and vitamin D supplements, so as to make up for the lack of naturally existing calcium in the body. This helps to keep the bones strong and also maintains the overall structure of the bones.

If the patient also shows signs of high levels of phosphate in the body, doctors may also prescribe medications that can bring the phosphate levels down. Furthermore, patients will have to follow a low phosphate diet in order to minimize health issues. Phosphate binders such as calcium acetate and calcium carbonate are generally prescribed to patients.

People suffering from this genetic disorder are also likely to suffer issues related to their endocrine system. Other conditions may also be caused as a result of pseudohypoparathyroidism, which includes low sex drive, unwarranted weight gain, late sexual development and low energy levels.

People who suffer from pseudohypoparathyroidism are eligible for the treatment. The doctor will decide the course and, whether phosphate binders are required, based on the results of blood tests.

People who do not have any symptoms related to the pseudohypoparathyroidism should not seek treatment for the same. If the patient notices some symptoms related to the condition, he/she should visit the doctor to get a diagnosis before treatment can be started.

Since the treatment involves supplementation with calcium and vitamin D, there are no major side effects for the same. Minor effects from calcium supplements may include an irregular heartbeat, constipation, nausea, dry mouth and bone pain. Vitamin D supplements on the other hand may lead to bone pain, weight loss, muscle weakness and confusion.

The treatment is a continuous process and a person with the genetic disorder will need to stay on the medication throughout life. Apart from following the prescriptions, patients must also ensure that they follow a diet high in calcium and low in phosphate. A doctor or nutritionist may be required to develop the perfect diet for the patient, based on the age and gender of the individual in question.

Recovery, much like the treatment itself, is a continuous process. Patients who follow the medication course set by doctors will be able to lead a relatively normal life. However, if the recommendations are not met, the condition may deteriorate and cause severe problems that are harder to treat.

Calcium and vitamin D supplements are cheap and can be purchased from any pharmacy. The cost of treatment will vary, but is usually around Rs. 5,000 and Rs. 10,000.

Results are not permanent and the supplements must be continued throughout life. If they are stopped at any point of time, the condition will worsen and may give rise to much more severe issues and conditions.

A person may try to keep the condition under control by making diet changes only. A diet rich in calcium and low in phosphate will theoretically allow the patient to lead a normal life. However, phosphate binders may be necessary in some cases, and just following a proper diet will not be enough in these cases.