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The Role of Pathology in Mitochondrial Disease (mito)

Pathology plays an important role in both the diagnosis and ongoing management of mito. Patients can experience a wide variety of symptoms and it can be challenging to join the dots and consider mitochondrial disease as the cause. Patients often undergo a multitude of blood tests as part of their journey to diagnosis. Ongoing symptom management also involves regular pathology services over the patient’s lifetime.

Exciting research may lead to developments in pathology testing that improve the diagnostic process for people with mito, avoiding patients having to undergo invasive, painful and often inconclusive muscle and liver biopsies.

The post Mito Foundation first appeared on Know Pathology Know Healthcare.

learn about your tests in plain-English

It can feel awkward to hand over a jar of your bodily waste to a collector. You may think to yourself, why can’t they just take a blood sample? But urine tests can tell us a lot about our health that blood can’t.

(Also – don’t feel awkward, your collector is a trained health professional and they’re not fazed by a bit of urine.)

What are urine tests used for?

Urine tests can be used for a whole range of diagnoses. From confirming a pregnancy to diagnosing an infection such as a UTI or an STI, checking kidney function, monitoring diseases such as diabetes and bladder cancer or monitoring drug use (for legal purposes or a pre-employment screening).

Urine is produced in your kidneys and passed through the urinary tract (ureters, bladder and urethra) before being expelled from the body. It’s mostly water (about 99%) but the remaining 1% is made up of urea, uric acid, ammonia, hormones, dead blood cells, proteins, salts and minerals, and toxins. It’s a waste product – your body getting rid of chemicals it doesn’t need. And that’s why urine tests are so useful; in many cases we can learn as much about a person’s health from what the body expels as what it holds onto.

A person with kidney disease, for example, will have both urine tests and blood tests to monitor their condition. The urine is tested for albumin, a type of protein. Your body needs protein, so having high levels in your urine may mean that your kidneys are not filtering your blood well enough. The blood is tested for creatinine, which comes from muscle tissue. It’s a waste product but when the kidneys are damaged, they have trouble removing creatinine from your blood.

Collection

Generally, it doesn’t matter what time of day you collect a urine sample, but there are occasional exceptions. Your doctor may, for example, request a first morning sample because the urine is more concentrated and therefore it is more likely to show up any abnormalities.  Or if the doctor is looking for glucose in the urine they may ask you to collect a sample after a meal.

You will probably be asked for a “mid-stream” sample. Urine is naturally sterile so if a test shows up bacteria this can be a sign of infection. By taking a sample from the middle of the stream you are reducing the likelihood of contamination from bacteria and cells from the surrounding skin. This is important – contamination due to improper collection can mean having to provide a second sample or even result in unnecessary treatment.

What happens to your urine once it’s in the lab?

Luckily for lab staff technology has improved a lot over the years when it comes to urine testing. In Medieval Europe doctors would observe the smell, consistency and even taste of urine to diagnose their patients.

These days analysis is a bit more scientific. For a UTI, for example, the first step usually involves your doctor carrying out a point of care test, whereby they dip a specially treated strip into a urine sample.

The strip will change colour depending on the diagnosis. If it detects white blood cells, blood or chemicals called nitrites, infection is likely. The sample is then sent to a lab for further testing. In the lab a scientist analyses the sample to confirm the presence of white blood cells and bacteria. They can also test it to work out which antibiotic is most likely to be effective (an important step in combating antibiotic resistance).

And whilst your lab technician isn’t tasting your sample, the Medieval doctors weren’t entirely wrong. A strong odour, for example, could be a sign of a urinary tract infection whilst a sweet smell could indicate diabetes. Cloudy urine could be a result of infection whilst pinkish coloured urine may mean there’s blood present.

The post Everything you need to know about urine tests first appeared on Know Pathology Know Healthcare.

Pathology tests showed protein in her urine, prompting doctors to urgently perform a kidney biopsy. A kidney biopsy involves taking one or more samples of kidney which are sent to a pathology lab to be analysed under special microscopes. Renal diseases can affect various components of the kidney and therefore samples need to be stained with multiple stains to assess various components of kidney tissue. Kidney biopsies are highly technical and very labour intensive, requiring a high level of expertise to obtain a rare diagnosis.

The anatomical pathologist diagnosed Linda with a rare form of nephrotic syndrome. She was told her options were transplant, dialysis or death.

“When doctors told me the news, it was a very hard pill to swallow but I knew I had to accept it. My inner-strength helped me to keep going”, said the mother of two.

Nephrotic Syndrome (NS) is a collection of symptoms that indicate kidney damage. It is characterised by excess proteins in the urine, exceptionally low levels of albumin in the blood and swelling caused by fluid trapped in the body’s tissues.

Despite the doctor’s prognosis, Linda managed to continue living normally for seven years. During that period, her kidney function decreased steadily until eventually doctors needed to intervene – it was time to begin the search for an organ donor.

Little did Linda know but her mother was preparing herself to become an organ donor.  At 62, Sylvana Crkovski knew she would need to be in good health for the operation so she revamped her diet and fitness regime and succeeded in losing 10kg. Linda’s nephrologist noticed the change and agreed to test if she was a match.

Compatibility testing for organ donors begins with a blood test to examine their blood type and determine if it will match the recipient’s blood. If their blood type is compatible with the recipient, they’ll receive further blood tests such as tissue typing and cross-matching to see if the recipient will react to their kidney. If there is no reaction, the transplant surgery can take place.

Sylvana underwent six months of health assessments, involving DNA and blood tests. Finally, pathology results gave Linda’s family the news they were hoping for: Sylvana was a perfect match.

On the day of their surgery at Royal Melbourne Hospital, Linda and her mother held each other’s hands as they were wheeled into the operating theatre. Linda will never forget the words her mother said to the surgeon just before the operation: “If the first kidney doesn’t work, take the other kidney”. Sylvana was willing to sacrifice both kidneys and endure dialysis if it meant saving her daughter’s life. The procedures went well and mother and daughter were released after five days.

Linda will need to take medication and undergo regular testing for the rest of her life but since the operation, she has vowed to live life to the fullest.

This July Linda competed in the Transplant World Games in Spain, where she won a gold medal in paddle tennis. When she’s not smashing it on the tennis court, Linda’s busy volunteering as a Fit for Life ambassador which sees her visiting patients in dialysis wards.

With the arrival of  Donate Life Week on the 31^st July, Linda wants to encourage more people to donate their organs. “I urge every Australian to make their donation decision count by heading to donatelife.gov.au and registering their donation decision.”

The post Mother’s kidney is the winning match for tennis champion, Linda first appeared on Know Pathology Know Healthcare.

The PSA test result came back as high – although the test is not diagnostic, it indicates to doctors that further investigations and monitoring may be necessary.

In Hamish’s case further testing was carried out; and a biopsy confirmed a diagnosis of prostate cancer.

Hamish’s doctor decided at this point to monitor him with regular testing of his PSA level to see if the cancer was progressing.

For a while his PSA level was trending down, but when doctors saw it beginning to rise, they decided that treatment was needed.

Hamish underwent radiation therapy and hormone suppression therapy to treat his cancer, and his last round of radiation treatment was in March 2015. The hormone suppression treatment is set to continue for another twelve months.

As well as being responsible for his diagnosis, pathology is an important part of Hamish’s treatment. It enables the doctors looking after him to determine how well the treatment is working and also to monitor his health overall.

Hamish said: “The very first day with the kidney stones the first thing the doctor did was send me down to pathology.

Each doctor’s visit they’ve relied on the results of pathology tests to plan the next move, without pathology I don’t know where we’d have been.”

In order to look after Hamish’s health overall he saw a whole team of doctors and 2 specialist nurses who often referred him for pathology testing to check on various aspects of his health; this included urine tests, and blood tests for anaemia and vitamin D levels.

Hamish describes pathology as a “critical link in the chain” of his healthcare.

He is now doing well and is thankful for the support he received alongside his medical care. He joined the Geelong Prostate Cancer Support Group and says:

“It was one of the best things I’ve done. It’s really helped because we’re all in the same boat.”

Hamish is a passionate advocate for the group, which supports men with prostate cancer and their partners.

Discovering he had cancer and undergoing lengthy treatment took a great toll on Hamish’s mental health and he is grateful to all those who have helped him through including his medical team, support group and mental health services.

And pathology is still an important part of Hamish’s healthcare, so that he can always know where he stands.

The post “Without pathology I don’t know where we’d be” first appeared on Know Pathology Know Healthcare.