As we start the year, I have been thinking about the rare conditions I have come across working in hospital for the few years I have been a Registered Nurse. Some of my top ones are the following:
1. Purple Urine Bag Syndrome
When I saw my patient's urine look all purple and royal I immediatley got into panick mode. So I did what we all of do when in panick mode; call for help. The patient looked easy and comfortable, getting me me some side eye from those who heeded my call. The first thing we all decided to do was to empty the catheter and collect a sample for analysis. Weirdly, the urine was a concentrated amber colour which means the purple was the colour of the catheter and urine bag, and not the actual urine.
On that shift, none of us new what this meant. Turns out, it's a whole syndrome and happens when a patient has a UTI in which the bacteria produces sulphatase or phosphatase which react to the bag and produce that purple hue. It is common in women and happens after prolonged catheterization.
Treating the UTI and changing the catheter usually resolves the condition.
2. MCADD
Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) is a genetic condition in which the patient cannot break down fat for energy. This means that they can only rely on metabolism of cabohydrate from food for their energy requirement. The long and short of it is that a person with this condition shouldn't stay without eating, otherwise they can become very unwell.
The patient I met with the condition was quite young and in the company of her mother. She had come to hospital with vomiting which had limited her food intake. All her mother kept saying is that she shouldn't stay hungry or without food. It was taking to long to get a prescription for additional antiemetics and dextrose infusion and she got more frustrated with every passing minute stating that the condition would soon become a medical emergency.
It did not become an emergency but I was wondering what disease or condition would do that to a person, so I quickly Googled and understood where they were coming from. MCADD has no treatment and management involves avoiding hunger and taking high energy foods.
3. GBS
I have seen two cases of Gullain- Barré Syndrome (GBS) and both have left me with so many questions. The first one was a kid and I mentioned it in this blog. The second one is more recent. The funny thing is, these two patients have nothing in common. They have differences in age, gender and even race.
This autoimmune disease mainly affect the nerves and in both cases, the patients ended up in critical care and were unable to move all limbs, relying solely on healthcare providers for their ADLs. They were both in so much pain. My recent patient had been referred for plasma exhange as treatment with IVIG had failed. I am curious to know whether both patients made full recovery following the condition.
As mentioned above, treatment involve IVIG infusion and plasma exchange in which the patient's blood is pumped out and the harmful autoantibodies are filtered. Symptom management is also key as this patients may need respiratory and nutritional support and proper pain management.
4. Auto Brewery Sydrome
Most of us came across this condition in textbooks so when I came across a patient with it, my curiosity was peaked. In this condition, commensal fungi overgrow in the stomach and while feeding on starch, produce ethanol. The person can therefore present with symptoms of alcohol intoxication and hangover. This was true for the patient I met. He looked like he was hangover through the shift with glassy eyes.
This condition can be managed through a low sugar and carbohydrate diet. In some cases, the patient may need antifungal therapy.
5. Steven Johnson Syndrome
This condition usually mimicks burns. I saw one patient with it when I was a student nurse and I still remember his face to date. It is caused by a reaction to some medications such as allopurinol. The individual will present with flu-like symptoms, develop a rash which then turn to blisters and start to shed off the skin.
This rare condition is common in the immunocompromised. Treatement involves symptom managament. This includes rehydration and wound care. All non essential medication can also be stopped, especially of the drug that caused the reaction.
What are some of the rare conditions you have come across in your career? Please share with me in the comment section below.