Unusual presentation with few symptoms leads to an interesting medical journey

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Unusual presentation with few symptoms leads to an interesting medical journey

Jonathan Bentley

Jonathan Bentley

4 minutes to Read
Volcano and Lava
Liz had been burning up for five days, but fever was her only symptom [Image: Tanya Grypachevskaya on Unsplash]

We are on our summer break and the editorial office is closed until 17 January. In the meantime, please enjoy our Summer Hiatus series, an eclectic mix from our news and clinical archives and articles from The Conversation throughout the year. This article was first published in the 15 December Summer edition

GP Jonathan Bentley discusses the extreme presentation and test results of an Asian woman, who discovers she has inherited something from her mother

Key points
  • If there is a high fever for several days, abscess should be excluded as a diagnosis.
  • White coat hypertension should be a diagnosis of exclusion not presumption.
  • Abdominal imaging should be part of investigations for an unusual presentation, such as fever and hypertension.
  • Cultural issues in management should always be considered.

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COVID-19 is creating a new reality. Where once students yearned for electives in exotic locations far away, the past months of border closures led my current student to choose us – a general practice just down the road from Sydney’s Rainbow Crossing. And while my area is a diverse area, with no judgement and very interesting patients, it is hardly Médecins Sans Frontières.

On the cultural front, my current student is Canadian of Mexican heritage. Her parents chose Canada as a non-judgemental country where their children could flourish and be accepted. My student has shared fascinating insights into her culture, which is different from my own and influences her determination to be the best doctor she can be. Cultural influences played a part in the medical journey of my patient Liz too.

Liz’s abnormal test results

New to my practice and working for one of the local specialists, 33-year-old Liz was not well. She had previously been healthy, but this was day five of fevers up to 39°C despite her trusted combination of paracetamol and ibuprofen, which normally worked in past illnesses. Apart from sweats, there were literally no other symptoms. Her COVID-19 swab had been negative two days earlier, and she had no ill contacts.

On examination, Liz attributed her blood pressure of 143/100mmHg to her usual white coat hypertension. She was now afebrile at 36.8°C, and her pulse was 95 beats per minute and regular.

At this point, I was leaning towards a urinary tract infection, but given the extreme presentation, I suggested we do some tests, which we did. However, Liz was keen to start treatment empirically; given the awful last few days, I agreed and prescribed norfloxacin 400mg twice daily for three days due to her known penicillin allergy.

Well, the abnormal test results just kept on coming, starting with a high urine albumin:creatinine ratio at 15.3mg/mmol (reference interval: <3.5mg/mmol), a midstream urine leucocyte count of >100x106/L (reference: <10x106/L) and erythrocyte count of >100x106/L (reference: <10x106/L), but, interestingly, no growth on culture. The full blood count did support bacterial infection though, with neutrophils high at 9.16x106/L (reference: 2.0–7.5x106/L).

To add insult to injury, Liz emailed to let me know she had broken out in a rash on the norfloxacin, just like the rash of her penicillin allergy. I suggested nitrofurantoin (Macrodantin) 50mg three times daily as an alternative, as the norfloxacin had certainly helped Liz’s fever, and I still favoured UTI as the diagnosis.

Further tests found the high-sensitivity C-reactive protein level to be high at 60.8mg/L (reference: 0.0–5.0mg/L), and unexpectedly normal urea and electrolytes, but raised liver function tests as follows: gamma-glutamyl transferase 220U/L (reference: 5–35U/L), aspartate aminotransferase 174U/L (reference: 10–35U/L) and alanine aminotransferase 440U/L (reference: 5–30U/L).

Things start to make sense

The abdominal ultrasound made sense of all the extreme results and was reported as showing: “A normal-size liver with innumerable simple cysts noted diffusely throughout the liver, the largest adjacent to the porta hepatis measuring 22mm. Right kidney long axis 15cm with a normal arcuate artery resistive index of 0.65. The left kidney long axis enlarged at 18cm with a normal arcuate artery resistive index of 0.68. Diffuse cysts noted throughout both kidneys/polycystic – the largest, septated, medial right kidney 38x36x32mm and left mid-kidney 48x45x41mm.”

By this point, the differential diagnosis had moved from UTI to an infected cyst/abscess of either the liver or kidney, but, either way, Liz was fortunately improving. At follow-up, her probably not-so-white-coat hypertension was now up to 177/121mmHg, and my student was able to ballot a non-tender but obviously enlarged left kidney.

The big new news from Liz’s devastated mother was that she too had polycystic kidney and liver disease, and previous transplant of both organs, long ago. She knew all too well that this was a hereditary (autosomal dominant) condition.

In her Asian culture, it is most distressing for a mother to know she had passed something genetic on to her child. My student and I discussed the cultural aspects with Liz; fortunately, she just wanted to focus on management and will discuss family planning with her partner another day.

So, Liz’s next step was to see a nephrologist, by which point her blood pressure was 180/100mmHg, and she was prescribed candesartan 16mg daily. Tolvaptan is a specialised drug for autosomal dominant polycystic kidney disease but will be kept in reserve for the time when her currently normal kidney function deteriorates, which will hopefully be a long time away.

The nephrologist has referred Liz for brain MRI/magnetic resonance angiography to check for aneurysms, cardiac echocardiography to check for valvular abnormalities, and renal artery Doppler ultrasound.

Fortunately, Liz has fully recovered from her recent fever and is happy to get on with her life, albeit with a nephrologist on the team. She is still a fan of the trusted combination of paracetamol and ibuprofen, but she now knows not to leave symptoms that do not respond to this regimen too long before seeking medical advice.

Jonathan Bentley is a GP in Double Bay, Sydney, NSW

Details have been changed to protect patient confidentiality

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