Two online webinars in support of patients with rare
pituitary diseases and Neuroendocrine tumours (NETs) were hosted by Rare
Disease South Africa (RDSA) and Novartis this month. 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 million,
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).

 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 feet, 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

 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

 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.


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

·         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 therapies.

·         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

·         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 medicines.