Novartis South Africa and Rare Disease South Africa (RDSA) hosted two online webinars this month, in support of patients with rare pituitary diseases and Neuroendocrine tumours (NETs). The webinars formed part of awareness campaigns to mark Acromegaly Awareness Day on 1 November and Neuroendocrine Tumors (NETs) Awareness Day on 10 November.

Dr Gary Sopher, Medical Director of Oncology at Novartis South Africa, says: “Because they are rare conditions, NETs, Acromegaly and Cushing’s disease are often overlooked in their early stages, and accurate diagnosis can take years. By raising awareness among both patients and medical practitioners, progress can be made in supporting early diagnosis and treatment.”


Affecting only around 115 – 295 people per million1, Acromegaly is caused by a non-cancerous tumour in the pituitary gland at the base of the brain that secretes excess growth hormone, which in turn triggers the over-production of another hormone, insulin like growth factor-1 (IGF-1).2

Symptoms develop slowly over years, resulting in a long time to diagnosis – on average, 6 – 10 years. Among the symptoms of Acromegaly are enlargement of the face, hands and feet2, as well as a range of seemingly unrelated complaints including cardiac disease and hypertension, carpal tunnel syndrome and joint pain, loss of vision, diabetes, colon polyps, profuse sweating, fatigue, progressive jaw misalignment, headaches and sleep apnea1.

Left undiagnosed, Acromegaly is associated with an increased risk of serious health complications. Treatment may include drugs to reduce the effects of the hormone, and/or surgery or radiation to remove the tumour2.

Cushing’s disease

Cushing’s disease affects even fewer people – only around 1 – 2 per million, and three times more women than men. This rare but serious and debilitating endocrine disorder is caused by a non-cancerous pituitary tumour which ultimately leads to excess levels of the hormone cortisol in the body. Cortisol is a hormone that regulates metabolism and helps the body react to stress, but in excess, this hormone leads to a range of physical and psychological symptoms.

Common symptoms of Cushing’s Disease include a round, red face, a collection of fat on the back of the neck (‘Buffalo hump’), central obesity (fat that collects around the belly, while arms and legs are thin), interrupted menstrual cycle, purple stretch marks and thin skin that bruises easily. High levels of cortisol can also cause depression, anxiety and irritability, and Cushing’s disease can increase the risk of diabetes, osteoporosis, hypertension, kidney stones and infertility.

Cushing’s disease takes 6 years, on average, to be diagnosed3. Treatment may include removal of the pituitary tumour, radiation therapy and drug treatment to control cortisol levels.

Neuroendocrine tumours

Impacting the lungs, pancreas or gastrointestinal tract, Neuroendocrine tumours are diagnosed in around 5 in 100,000 people4.

  • Gastrointestinal (GI) Neuroendocrine tumours arise from cells responsible for producing and releasing a variety of hormones that regulate bodily functions within the digestive system. The tumours might be found in the stomach, intestine, colon, appendix or rectum, with GI Neuroendocrine tumours accounting for 54% of all Neuroendocrine tumour diagnoses. Because they are usually small and grow slowly, the symptoms of these tumours can be mistaken for other conditions, such as irritable bowel syndrome or food allergies. Symptoms may include belly pain, diarrhea, fatigue, flushing, nausea and vomiting and weight loss. Treatment may include surgery, chemotherapy and targeted therapies4.
  • Lung Neuroendocrine tumours account for 30% of all Neuroendocrine tumours. Diagnosis of this form of Neuroendocrine tumour can also take years, as these tumour tend to grow slowly and may be asymptomatic. There are four types of Lung Neuroendocrine tumours: Typical carcinoid, Atypical carcinoid, Large-cell neuroendocrine carcinoma (LCNEC) and Small-cell lung cancer (SCLC). Symptoms may include a persistent cough, wheezing, shortness of breath and chest pain.  The primary treatment options for people living with lung NET are surgery, chemotherapy, and other medicines5.
  • Pancreatic Neuroendocrine tumours account for 21% of all Neuroendocrine tumour diagnoses. Pancreatic Neuroendocrine tumours are also sometimes referred to as islet cell tumours, and are different from pancreatic exocrine cancer, which is generally referred to as pancreatic cancer. Because Neuroendocrine tumours tend to grow slowly or be asymptomatic, it can also take years to diagnose this form of Neuroendocrine tumour. Symptoms may include diarrhea, indigestion, persistent stomach ulcers, skin rashes, blood clots in the lung, and gall bladder problems. Treatment may include surgery, chemotherapy, and other medicines6.

For more information on rare diseases, visit Rare Diseases South Africa.

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Retshidisitsoe Mofokeng

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