'My face swelled up and I couldn't see': UAE doctors save Pakistani expat from rare disease with no cure

Zulfiqar Ali, a 44-year-old mechanic in Musaffah, had just returned from a long vacation in Karachi when he started suffering from sudden bouts of headache and stomachache. Doctors told him he has a thyroid problem — but he wasn't convinced.

“I was unable to work and think properly. My face got so swollen that I couldn’t see anything more than one foot away,” the Pakistani expat said.

He was then referred to Burjeel Medical City (BMC). Armed with a blood test report that showed an elevated thyroid--stimulating hormone, he consulted internal medicine specialist Dr Niyas Khalid.

By then, his symptoms had already worsened, so Dr Khalid ordered various laboratory tests to determine the cause of the symptoms.

Tests revealed that Ali’s T2 and T3 — the two major hormones made by the thyroid — were extremely low and his thyroid-stimulating hormone (TSH) was extremely high. His thyroid peroxidase antibodies (TPO), which indicate an autoimmune disorder, were also high.

A rare disease

After seeing the lab results, Dr Khalid was confused as the symptoms did not correspond to one particular disease.

“My initial thoughts were that he has developed myxedema – severely advanced form of hypothyroidism. But further tests and examination revealed other hormonal imbalances. Hormones like cortisol levels, testosterone and ACTH were also very low. Contrarily a hormone named prolactin was high. At this stage I suspected a tumour in the brain and an MRI confirmed a large pituitary tumour. I did a special test called synacthen test to confirm adrenal insufficiency," Dr Khalid told Khaleej Times.

Correctly diagnosing the disease was a challenge. But after going through various reports and examinations, Dr Khalid concluded that Ali suffered from autoimmune polyendocrine syndrome (APS) type 2 or Schmidt Syndrome.

It is a rare autoimmune disorder characterised by a steep drop in the production of several essential hormones. It is caused by autoimmune diseases affecting various endocrine glands in the body.

'He must undergo therapy for life'

Ali’s condition showed improvement after the medical team started him on cortisone.

According to Dr Khalid, he did not need the usual medication to reduce prolactin as it came down with hydrocortisone and thyroid hormone replacement.

APS type 2 is not curable, and the patient must undergo hormone replacement therapy for life.

If left untreated, it can cause Addison’s crisis – a life-threatening situation that results in low blood pressure, low blood levels of sugar, and high blood levels of potassium – that can lead to death.

Ali’s pituitary tumour started decreasing in size once the treatment began. A neurosurgical opinion was sought, and a surgical treatment was ruled out as the tumour itself was not causing any pressure symptoms on the brain.

“I had to undergo a lot of tests and I was injected with several medicines. I went through a lot of pain. This is my rebirth. Thanks to Almighty for saving my life,” said Ali.