But in practice, so much of the work pathologists and scientists do revolves around caring for patients.
From aiding the speed of critical diagnoses, to helping people manage ongoing illnesses, pathologists touch people’s lives through prevention, diagnosis and treatment. To celebrate National Pathology Week, five of our members highlight memorable cases from their careers working with and for patients.
"We recently dealt with a case of a gentleman in his sixties, with a long and complicated orthopaedic history. Since his youth he’d sustained a number of bone fractures – one of which took 10 years to heal – and there hadn’t been a clear cause found. After sustaining yet another fracture when he stumbled, he was referred to us at the metabolic clinic for assessment of bone health.
Our investigation included a bone density scan, a full biochemical profile, screening for coeliac disease, and checking his testosterone, vitamin D and thyroid function. Almost everything came back normal – except his levels of the enzyme alkaline phosphatase, which was very low. On further questioning, the gentleman disclosed that his teeth were normal – except that they kept falling out on their own. The diagnosis? Hypophosphatasia, a rare genetic disorder that affects the ability of the bones and teeth to take up minerals such as calcium and phosphorus, affecting the hardness and strength of bones and teeth.
After our investigation, this gentleman finally received a diagnosis to explain what was happening, and his options for treatment. In this case, the biochemistry was telling the story all along – but it took a team of clinical biochemists to read it!"
Dr Fiona Gidden, Consultant Chemical Pathologist
Clinical biochemists, sometimes called chemical pathologists, focus on the investigation of bodily fluids to diagnose diseases in which the body’s chemistry is altered. They help to manage labs, conduct hands-on lab work and advise clinicians on the diagnosis and treatment of illnesses such as diabetes..
"In the spring of 1993, Belinda Sosinowicz, a 27-year-old student went to casualty complaining of severe back pain. She was taking steroids to treat a low platelet count. The cause of her pain was unclear but because she looked unwell, she was admitted for observation. The next morning, a spotty, blistering rash had developed on her neck and shoulders. I was asked to see Belinda and was very worried this could be chickenpox – she had not had it before and there had been cases at her college recently.
The quickest test was to examine blister fluid for virus particles using an electron microscope. Within 10 minutes I had the answer – it was chickenpox, and anti-viral treatment was started immediately. But overnight, Belinda’s breathing worsened significantly and, on my request, she was transferred to an Intensive Therapy Unit (ITU). Within hours, multi-organ failure had developed. It later would transpire that people like Belinda, who were already being treated with steroids for an unrelated condition, were at higher risk of severe infection.
Thankfully, Belinda survived, though was left with visual impairment because the virus had attacked both retinas. Her case was instrumental in alerting healthcare professionals and patients to the dangers of chickenpox in someone taking steroids, and undoubtedly saved many lives. And despite being unable to pursue textile design as a career, Belinda went on to inspire others through her Trust Art Project, an arts and wellbeing consultancy that seeks to improve individual wellbeing."
Dr Phillip Rice, Consultant Virologist
Virologists diagnose acute viral infections – especially respiratory viral infections – and are involved in the ongoing treatment of chronic illnesses such as HIV, hepatitis B and hepatitis C. They also help to manage viral infections of the central nervous system and cytomegalovirus and polyomavirus infections in organ transplant recipients.
"As perinatal pathologists, we tend to see the darker side of pregnancy and birth, and it can be easy to be drawn into this. But occasionally a particular case will remind us of the good that can come from our work.
One such case concerned a mother who had experienced several miscarriages. Following another loss, a sample was sent to our perinatal pathology department. Slides were prepared from the placental tissue and examined using a microscope. This showed changes suggesting the need for further clinical investigation, and an autoimmune-related condition was diagnosed. The woman was treated, and eventually went on to deliver a healthy child, sending her thanks to me via the obstetrics team.
It is this new life that shows the relevance of our specialty to real families, the ability to shed a little light in the darkest of hours. In our work – as I often say in lectures – pathology is the study of the dead for the living."
Dr Margaret Evans, Perinatal Pathologist
Perinatal pathologists investigate diseases at and around the time of birth. Their work includes investigating problems with the development of embryos and fetuses, as well as miscarriage and stillbirth.
"A 42-year-old woman went to her GP experiencing persistent chest pain. After examining her, the GP sent blood and urine samples to our pathology laboratory. The samples arrived in the afternoon and tests were run that same evening, followed by more specialist tests the next day. One of the specialist tests found a large amount of an abnormal protein called Bence Jones protein in the woman’s urine. This protein is found in patients with certain types of blood cancer and can indicate a more aggressive tumour, as well as having the potential to damage the kidneys.
On seeing this result, the clinical scientist immediately arranged for extra tests to confirm the findings, then met with the haematologists to review the patient’s results. Together they agreed that the woman should be seen urgently. The clinical scientist telephoned the woman’s GP to tell them the test results and asked them to fax an urgent referral letter to the haematology clinic. This letter was received by waiting haematology clinic staff the following morning, and the woman was given an appointment to see the consultant haematologist that same day.
After further investigations, the woman was unfortunately diagnosed with multiple myeloma, a type of blood cell cancer. But she was able to start chemotherapy one week later, just two weeks after her initial visit to the GP. The laboratory’s swift actions – from recognising the abnormal results to working closely with hospital clinicians and the GP – meant that she was able to get the treatment she needed as quickly as possible."
Dr Rachel Wheeler, Clinical Scientist in Immunology
Immunologists focus on the diagnosis and management of diseases of the immune system, such as autoimmune diseases and allergies.
"A previously fit and well man in his sixties was brought to hospital vomiting blood. Sadly, the bleeding could not be controlled, and the man died before an accurate diagnosis could be made. Following his death, however, my team conducted a post-mortem. It showed the immediate cause was bleeding from abnormal blood vessels, caused by cirrhosis of the liver. To determine the cause of this cirrhosis we took small samples from his liver and did a range of tests on them – exactly as would be done on a liver biopsy from a patient with unexplained cirrhosis in life.
Our tests resulted in a diagnosis of Alpha-1 antitrypsin deficiency – a rare and, importantly, inherited condition causing lung and liver problems. As a result of our detailed post-mortem, this man’s relatives received an explanation for his sudden death, which was some comfort to them. They also found out they were at risk of having inherited this potentially life-threatening condition, which enabled them and their doctors to investigate further."
Dr K J Denton, Consultant Histopathologist
Histopathologists examine tissue sections that have been stained to reveal their microscopic structure, to decide whether disease, such as cancer, is present. Around 20 million histopathology slides like this are examined in the UK each year.