Chronic pain affects about 1 in 5 people in Australia and is a common reason for patients to see their doctor and to seek treatment. As patients seek ever increasingly strong pharmacological therapies they may become increasingly depressed, fatigued and dislocated from society.

Genetic testing for cancer is important for a small number of families at increased risk due to the inheritance of genetic mutations. Most commonly this involves the inheritance of breast cancer genes such as the BRCA 1 and 2 or colorectal cancer genes such as the Lynch syndrome genes. Although these only represent a small percentage of total cancers reported there is significant public interest in these syndromes.

In the context of family cancer screening, genetic testing looks for specific inherited changes or variants in a person’s genes which may predispose them to an increased risk of developing a neoplasm. Harmful variants in some genes are known to be associated with an increased risk of developing specific cancers such as mutations to the BRCA 1 and 2 genes associated with breast and ovarian cancer and the Lynch genes associated with colorectal and endometrial cancer.

The ketogenic diet has recently become popular as an effective dietary approach to weight loss. The diet restricts carbohydrates to just 5-10% of total calories and relies on caloric intake from fats (55-60%) and proteins (30-35%) forcing metabolism to shift from gluconeogenesis to ketogenesis with the production of acetoacetate, beta-hydroxybutyrate and acetone – ketone bodies – as the usable energy source. People adopting this diet report a significant reduction in hunger, increase in energy, clarity of thought and reduction in chronic inflammatory conditions. Some are concerned the diet is difficult to maintain long term and may be risky in patients that are diabetic and in those with chronic kidney disease.

Before proceeding, we apologise for the audio quality in this week's episode. Unfortunately, we experienced some technical difficulties and we will endeavour to resolve these problems in future episodes of Everyday Medicine.

Diabetic foot is the name given to the condition commonly experienced by people with diabetic peripheral neuropathy and results in an insensitive and often deformed foot. Found in both type I and type II diabetic patients (of which there are 1.8 million living in Australia-one new diagnosis is made every 5 minutes), even minor trauma in the diabetic foot may lead to the development of an ulcer. The combination of impaired vascular supply from micro and macro vascular disease and neuropathy presents real challenges for healing. Consequently, diabetic foot ulcer is a major event in 85% of subsequent amputations and is the cause of 20% of hospital admissions related to diabetes. Ten to 15% of diabetic foot ulcers fail to heal and of these, 25% lead to an amputation. In one study up to 50% of diabetic patients undergoing amputation were dead within 2 years. Failure to be seen and managed by medical attendants more than 6 weeks after developing an ulcer in a diabetic foot vastly increases the amputation risk however just one year after appropriate vascular surgical management, between 70 and 90% of limbs will be saved from amputation. Furthermore, one year after vascular intervention up to 60% of diabetic foot ulcers are healed, highlighting the importance of vascular surgical expertise early in the management of the diabetic foot.

It is common in clinical practice to identify patients with impaired renal function as determined by diminished glomerular filtration rate and elevated creatinine. The decision to undertake thorough work-up and investigation of such patients or to observe and monitor, removing any potential offending nephrotoxic agent, is a clinical problem we address in this podcast with expert nephrologist Dr Tony Amin, who considers:

Sodium is a major extracellular cation. Normal sodium concentrations range between 135 and 145 mmol/L. Alterations in sodium concentration, particularly hyponatraemia is the most common electrolyte disorder doctor’s encounter in clinical practice. Up to 20% of people admitted to hospital have hyponatraemia and it is estimated that 1.7% of population also have hyponatraemia.

The consequences of dementia with short term memory loss, visuospatial dysfunction, executive dysfunction, apathy, word-finding difficulty and apraxia is devastating both to the patient and family. It is estimated that 1% of Australians aged 65 years have dementia and that almost half of our population over 85 years have dementia to varying degrees. Alzheimer’s (60% of cases), vascular dementia (15% of cases), Lewy body and frontotemporal (each 5% of cases) and other forms of dementia secondary to alcohol, trauma and neurodegenerative disorders reflect the main forms of dementia seen in our society

Each year in Australia, over 125,000 of our more elderly population are admitted to hospital consequent to a fall. About a third of people over the age of 65 years fall each year and this figure rises exponentially with age. In up to 10% of falls, serious injuries such as fractures (a third of which are hip), soft tissue injuries and direct brain injuries arise. Falls and injuries from falls have serious implications and consequences.

Couples are said to be infertile if pregnancy does not result after a year of carefully timed sexual activity without the use of contraceptives and is estimated to affect up to one in six Australian couples. It is also estimated that male partners contribute approximately 40% to cases of infertility, the same percentage as women. In a third of couples, a combination of male and female factors both need consideration. Today, women in Australia are 31 years of age before their first child is born compared to a generation ago where women on average were 24 years of age, this change in timing of first pregnancy and lifestyle may also be contributing to the difficulty some couples have starting their families.

Altered uterine bleeding is estimated to affect 10-30% of women in midlife and constitutes about a third of outpatient gynaecological reviews. There are many aetiologies to consider including leiomyomas (fibroids), endometrial pathologies, polyps, malignancy, platelet dysfunction and coagulopathies.

The detection of colorectal polyps is of critical importance in the prevention of colorectal cancer. Studies have demonstrated that colorectal cancer arises from colorectal polyps in more than 95% of cases. Fortunately most polyps do not become malignant (less than 1%) and it is known that less than 5% of all colonic adenomas harbour malignancy. The National Bowel Cancer Screening Program has been a government initiative to assist in the detection of early cancers and malignant polyps through the detection of occult haemoglobin in stool and some larger clinical trials have demonstrated the benefits of screening population this way. Once a malignant polyp is determined colonoscopically a fresh set of questions arises in regards to best management practice.

Rectal bleeding is a very important clue to the possibility of serious internal colonic pathology. Whilst our approach to work up of patients with rectal bleeding is determined by the description of blood, the age of the patient and background history, it is extremely important not to overlook rectal bleeding as a possible early sign of a malignant polyp, premalignant polyp, colorectal malignancy or inflammatory bowel disease.

Metabolic bone disease is common, it is estimated that about 4.75 million Australians have either osteopenia or osteoporosis. Osteoporosis affects up to 23% of women and 6% of men over the age of 50 with a markedly increased risk of minimal trauma fractures including hip fracture with increased morbidity and mortality. Osteoporosis is characterised by microscopic architectural deterioration of bone structure, loss of bone mass and a change in bone metabolism and can be confirmed by dual-energy x-ray absorptiometry (DEXA scan). Until recently 70-85% of patients presenting with a minimal trauma fracture have tended to be both under investigated for osteopenia and osteoporosis, nor appropriately managed to prevent a further fracture. Metabolic bone disease is a silent epidemic.

Centrally mediated abdominal pain syndrome is a chronic recurrent condition that is not related to bowel function, diet or definite organic pathology such as inflammatory bowel disease, diverticulosis, vascular syndromes nor neoplasia.

Covid vaccine induced Pericarditis-Myocarditis

Since the release of mRNA vaccines medical practitioners around the world have been receiving calls from patients complaining of chest discomfort typical of pericarditis some of these patients have also had associated ECG changes and cardiac enzyme elevation consistent with myocarditis. This phenomenon does not appear to be related to the non mRNA vaccines available.

Polyps are discreet mass lesions that protrude into the intestinal lumen and represent a very important precancerous pathology to be identified and removed at colonoscopy. Up to 95% of adenocarcinomas arise from polyps, such cancers develop either after inactivation of the APC gene (for adenomas) or by KRAS mutation or BRAF oncogene activation with methylation of promoter regions for the serrated polyp pathway. As colorectal cancer is one of the most commonly diagnosed cancers in Australia, with up to 1 in 18 males and 1 in 25 females developing cancer in their lifetime, identification and removal of polyps as demonstrated by the National Polyp Study remains an important objective at colonoscopy

Up to 23% or more of Australians have varicose veins which may include small spider telangiectasias to large cosmetically challenging varicosities. In this episode we talk with phlebologist Louis Loizou who runs a very successful vein solution clinic in the community where he manages patients with all presentations of varicose veins, large, small, spider veins – he is able to find a solution for all. Louis is a past vice president and honorary secretary of the Australian College of Phlebology.

Newfound freedom from lockdown in both Victoria and New South Wales will undoubtedly lead to greater COVID-19 exposure. Whilst widespread vaccination uptake has been achieved a significant number of adults and our children remain unvaccinated and vulnerable to the Delta strain. What can we expect from the health perspective for those exposed?