Trust your body—a rare disease diagnosis journey

Conn’s syndrome, also known as primary aldosteronism, is a rare endocrine disorder characterized by the excessive production of the hormone aldosterone by the adrenal glands. Aldosterone plays a crucial role in regulating the levels of sodium and potassium in the body. In Conn’s syndrome, the excess production of aldosterone leads to increased retention of sodium and loss of potassium, which can result in a range of symptoms and complications.

Paula is an Inspire member living with Conn’s syndrome who offered to share her story. Because of ongoing legal issues related to her health and delayed diagnosis, her name has been changed to protect her anonymity. She details her journey living with Conn’s syndrome and the difficulties she faced during a long, complex path to diagnosis.

“I was about 58 years old when I started to feel unwell,” Paula says. “I was looking forward to retirement! I developed some strange symptoms which neither I nor my doctors pieced together as one whole disease.”

Conn’s syndrome causes and risk factors

In most cases, Conn’s syndrome is caused by a benign tumor in one of the adrenal glands, known as an aldosterone-producing adenoma. In some cases, the excess production of aldosterone may be due to hyperplasia of the adrenal glands, which results in the overgrowth of the glandular tissue. Rarely, Conn’s syndrome may be caused by a genetic mutation that affects the production of aldosterone.

The exact cause of Conn’s syndrome is unknown, but it is more common in women than men and tends to develop in middle-aged adults. Other risk factors for Conn’s syndrome include high blood pressure, low potassium levels, and a family history of the condition.

Symptoms

The symptoms of Conn’s syndrome can be subtle and may vary from person to person. Some common symptoms include:

• High blood pressure: This is the most common symptom of Conn’s syndrome and may be difficult to control with medication.
• Muscle weakness: This is due to low levels of potassium in the blood, which can affect muscle function.
• Fatigue: This is also a common symptom and may be due to the effects of excess aldosterone on the body.
• Headaches: These may occur due to high blood pressure.
• Polyuria: This refers to an increased frequency of urination, which may be due to the effects of excess aldosterone on the kidneys.
• Polydipsia: This refers to an increased thirst, which may also be due to the effects of excess aldosterone on the kidneys.

Below, Paula describes her ongoing symptoms, which lasted for over a decade:

“My blood pressure was poorly controlled, even on lots of different medicines. I was always thirsty, despite a negative diabetes test, and constantly using the bathroom. I also had some strange cramps, tingles, constant tiredness, headaches, digestive problems, and heart palpitations. I was in and out of the emergency room with constantly low potassium levels, the cause of which was not found. I thought it was all due to my busy lifestyle. I was working long hours, keeping my home going, taking my daughter to university, and looking after my aging parents. I had numerous blood tests and scans but all reported as normal.”

Diagnosis

As described by Paula, diagnosing Conn’s syndrome can be challenging because the symptoms are often non-specific and can be caused by other conditions.

“I was desperate for answers, because I knew something was wrong with my body. But my doctor was starting to question my mental health state and thought I was attention seeking! Finally, I was referred to a gastro doctor for severe bloating and appetite loss. I told him my story and battle with continuing potassium loss and he sent me for lots of tests, including the hyperaldosteronism test, which came back positive! After a decade of symptoms, I now had an answer!”

As in the case of Paula’s diagnosis, a blood test is conducted to test for Conn’s syndrome, which measure the levels of aldosterone and renin, another hormone that regulates blood pressure. In Conn’s syndrome, the levels of aldosterone are typically high, while the levels of renin are low.

If blood tests suggest Conn’s syndrome, the next step is usually an imaging test to locate any tumors or abnormalities in the adrenal glands. An adrenal vein sampling may also be performed to measure the levels of aldosterone in the adrenal glands directly.

Treatment

Luckily, Paula was able to receive immediate treatment following her diagnosis.

“In a flash following my test results, I was referred to an endocrinologist for immediate medical treatment, in my case a drug called spironolactone. My old CT scans were reviewed but no abnormality was ever seen.”

The treatment of Conn’s syndrome depends on the underlying cause and severity of the condition. In cases where a tumor is causing excess aldosterone production, surgery may be necessary to remove the tumor. This is usually the preferred treatment option because it can cure the condition and prevent further complications.

In cases where surgery is not an option or is not successful, medication may be used to manage the symptoms of Conn’s syndrome. The most commonly used medications are aldosterone antagonists, which block the effects of aldosterone on the body. These medications can help to reduce blood pressure and prevent further complications.

Prognosis

The prognosis for Conn’s syndrome is generally good with appropriate treatment. Surgery to remove a tumor is usually curative, and medication can be effective in managing the symptoms of the condition. However, if left untreated, Conn’s syndrome can lead to serious complications, such as heart failure, stroke, and kidney damage.

Unfortunately, in Paula’s case, delayed diagnosis and treatment led to ongoing health complications that she continues to manage to this day.

Prevention

Because the exact cause of Conn’s syndrome is unknown, there is no specific way to prevent the condition. However, maintaining a healthy lifestyle and managing risk factors such as high blood pressure and low potassium levels may help to reduce the risk of developing the condition.

According to Paula, however, the most important thing one can do is trust yourself and the messages your body is sending you.

She offers hope and encouragement to anyone seeking a diagnosis. “If you feel something is not right, seek out answers and don’t give up!”