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

If left untreated, his disorder could cause low blood pressure, low sugar level, and high potassium level – factors that can lead to death


Ismail Sebugwaawo

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Published: Thu 15 Sep 2022, 12:06 PM

Last updated: Thu 15 Sep 2022, 10:35 PM

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.

“It’s a fatal disease if not diagnosed on time. We were lucky to have diagnosed the problem on time, even without a proper test to confirm the Schmidt Syndrome,” said Dr. Khalid.


'Rebirth' after 16 days

After spending 16 days in the hospital, Ali was discharged. He made a remarkable recovery and is back to doing his regular work without difficulties. He has also been compliant with his hormone replacement therapy.

Ali, who has a wife and three children back in Pakistan, did not inform his family about his illness as he did not want them to worry.

“When I first got the diagnosis, I was scared and planned to return to Pakistan for treatment. But Dr Khalid gave me hope and instilled confidence in me, so I decided to stay,” said Ali.

“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.

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