3 commonly misdiagnosed illnesses in women

PCOS, coeliac disease and thyroid issues can be debilitating and are often misdiagnosed.

18 September 2012
by Cindy Tilney

Feeling exhausted, sluggish, depressed, bloated? Your symptoms may be par for the course in our frenetic modern world -- but they could also indicate a health problem that needs attention. We take a look at some of the most common -- and commonly-misdiagnosed disorders.

1. Polycystic ovary syndrome (PCOS)

As a teen, Tertia Albertyn's menstrual cycle was annoyingly erratic -- a problem her gynae addressed by putting her on the Pill. It was a short-term solution, but it masked a far more serious underlying problem. "I always suspected I might struggle to conceive, but it wasn't till after I got married and went off the Pill that I discovered I wasn't ovulating," says Tertia.

Tertia was diagnosed with polycystic ovary syndrome (PCOS) — a hormonal condition that affects between five and 10 percent of women of childbearing age, and is characterised by a combination of at least two of three features: absent or irregular ovulation, an overproduction of androgen, often associated with an excess of male hormones, like testosterone, and cysts on the ovaries.

These abnormalities can cause a range of distressing symptoms, which include infertility, acne, hirsutism (excess body or facial hair) and alopecia (absence of hair). While Tertia displayed virtually none of the visible symptoms of PCOS, an ultrasound revealed her ovaries were riddled with immature eggs.

Exactly what causes PCOS is unclear. "The most likely explanation is that a cluster of genetic and environmental factors are at play," says fertility specialist Dr Sascha Edelstein. There appears to be a strong familial link to the condition.

Dr Edelstein also established a connection between PCOS, insulin levels and weight gain: "Obesity causes a surge in glucose levels, which the body tries to neutralise by producing insulin."

"I tried everything to fall pregnant — oral fertility drugs, injections, artificial insemination — but nothing worked," says Tertia. She embarked on rounds of in vitro fertilisation (IVF), eventually falling pregnant with twins on her ninth attempt. She gave birth to her third child, Max, in May 2009.

How PCOS is treated

Symptoms of PCOS can seldom be reversed, but can be managed with medication and weight control. Obese sufferers are less likely to respond to treatment, and if they fall pregnant, are more likely to miscarry or experience problems during pregnancy.

Those who get their body mass index (BMI) down to below 36 have a greater chance of conceiving and some doctors insist their patients reach this goal weight before prescribing infertility treatment."PCOS is an early warning signal, as it’s associated with diabetes, hypertension, high cholesterol and cardiac disease," says Dr Edelstein. Address the symptoms early and make lifestyle changes to minimise your risks.

2. Coeliac disease

From the time she was 11 years old, Yael Goodman was plagued by headaches, stomach problems, anaemia, fatigue and drastic weight loss. Yael went to see neurologists, endocrinologists and gastroenterologists, and was tested for almost every disorder imaginable. She was diagnosed with an underactive thyroid gland – which runs in her family – and fibromyalgia.

But Yael continued to struggle with her health. Eventually, a new GP referred Yael to a haematologist (blood specialist). "He realised there was something else going on and tested me for coeliac disease. My blood showed sky-high levels of both indicators for the disease," says Yael.

"Coeliac disease is a chronic digestive disorder caused by hereditary intolerance to gluten," explains nutritionist Megan Perry. "When a person with coeliac disease consumes gluten, the body responds by launching an attack on the immune system." Gluten is found in grains such as wheat, barley and rye, and their associated flours.

Most medical experts believe coeliac has a genetic base and is present from birth, though symptoms frequently only become apparent at a later stage.

"The coeliac diagnosis changed my life,” says Yael. “It takes time for the stomach lining to heal after being constantly 'assaulted' by gluten, but I noticed changes almost immediately and within three to six months, most symptoms had either drastically improved or totally disappeared."

How coeliac disease is treated

The disease can never be cured, but sufferers can improve – or eliminate — their health problems by switching to a gluten-free diet. "A good-quality probiotic, glutathione, vitamin K and vitamin C are also beneficial in the healing of the intestinal lining," says Megan.

Yael has discovered plenty of alternatives to gluten-based foodstuffs: fish, meat, potatoes, seeds, pulses, nuts, fruit, vegetables, rice, corn. It's even possible to eat certain chocolates and ice-creams — provided they don’t contain wafer or anything else made with flour. "A huge number of foods contain 'hidden flour’ in sauces, batter, seasoning and so on, so you have to be careful," she warns.

3. Thyroid disease

Leigh Pomario first started experiencing unusual symptoms after her first child was born. "About four months after having Luka I was absolutely exhausted," she says. "I put it down to having a new baby, but it was an overwhelming lethargy."

Around the same time, Leigh began experiencing intense muscle cramping and stiffness in her joints. After being referred to a specialist, a blood test showed that she was suffering from an underactive thyroid and medication was prescribed.

Thyroid disease falls into two major categories, hyperthyroidism (overactive) and hypothyroidism (underactive) thyroid, of which an underactive thyroid is roughly four times more prevalent. A diverse range of symptoms, including exhaustion, depression, unexplained weight gain and loss, are associated with thyroid problems. "Thyroid problems are extremely common, but can often go undetected," says endocrinologist Dr Landi Lombard. "Family history, especially in the mother, sister or grandmother, can greatly increase your risk of developing thyroid disorders."

How thyroid disease is treated

Leigh will need to be on lifetime medication, but agrees that this alternative is preferable to the debilitating symptoms she experienced previously.