Strategies for tough medical diagnoses

[GGGOz]

Hey all - this forum has been a big help to me in the past, as I was able to control my pelvic floor pain when I couldn't find help anywhere else. With that said, I have recently had some family members who have also had some other (non-UCPPS) health issues where they have been struggling to get a diagnosis even with relatively severe symptoms.

My question is a general one, and it is hopefully appropriate here as many on this board I'm sure have experienced this. What is the best way to approach a difficult to diagnose health issue, when one has seen multiple doctors with no answers or direction given? How would you advise this person? Is the answer to just keep seeing more doctors, or to try to find the right one who may have insight into your specific issue? Is traveling to major hospitals (Cleveland Clinic, Mayo, etc) worth the expense? Are there doctors in the US who specialize in difficult-to-diagnose patients?

Let me know your thoughts! I know how lonely it can feel to have health issues that are not well understood unfortunately.

[webslave]

This is a fairly common occurrence, unfortunately. Specialists doctors tend to see problems as falling within their own specialty, and really talented general doctors (called General Practitioners in the UK and Family Doctors in the US) are as rare as hen's teeth.

The solution I found was to become your own doctor, to an extent. Google up every symptom, and write down all the conditions that symptom could denote. Make a spreadsheet, with each symptom a separate column, and under each column list all the possible diagnoses. Eventually a pattern emerges. Then, armed with the most probably cause, see a specialist in that area of medicine and get properly tested.

Can you describe the person's symptoms here?

[GGGOz]

Agreed, oftentimes the specialists will kick the patient back to the primary care doc if they don't find anything and if the primary care doctor doesn't search further, you could be on your own.

Sure, it's my brother actually, I'm sure he wouldn't mind.
My understanding of his symptoms is:
- Heart Palpitations consistently
- Chest pressure (described as balloon in chest/upper abdomen feeling)
- Difficulty exercising due to fast heart rate, palpitations
- Arrhythmias (PVCs, PACs) on bad days
- Fatigue, near-fainting on bad days

Things that make it worse:
- Excessive Salt
- Too much water
- Exercising
- Poor diet (carbs, sugar, salt)

Things that help:
- Electrolytes, especially magnesium
- Gentle exercise (walking)
- Good diet (generally lots of lean protein I believe)

Started suddenly a couple years ago after he woke up one day with a tight chest. Multiple negative covid tests, but they found high adenovirus antibodies at the time. Only finding was a very small pericardial effusion that doesn't respond to treatment. Seen 2 cardiologists, one said nothing was wrong with him as the effusion was so small it shouldn't cause symptoms, the other didn't have any guidance either. He's had a number of scans done and everything was said to be normal.

He is only a few years older than me (mid 30s) and looks perfectly healthy just looking at him. Definitely not the hypochondriac/anxious type either.

To me his symptoms sound like a much older heart failure patient, but the cardios all say he's fine so he is frustrated. He is still able to work his desk job ok and still can go about life without much trouble (to my eyes at least), but I still feel badly as I know he is not able to do a lot of the things he used to do, and I know he's struggling. My only suggestion to him has been to travel to Cleveland Clinic or Mayo or something to get checked there, but he hasn't done that yet.

Any thoughts/advice is appreciated

[webslave]

1. Get imaging of the chest area, CT and/or MRI. Make sure no physical abnormality or growth in the chest cavity. And have a coronary angiogram (I presume he's had that already).
2. Despite your feeling that he is not an anxious type, this does initially sound like a possible case of panic attack. Your own condition is also related to anxiety, so there could be a genetic link. Anxious people do not necessary "seem" anxious.
3. The most obscure reason, if no physical abnormality is seen, and a psychological assessment confirms no underlying anxiety condition, would be a neurological cause. Palpitations can have neurological causes, including the brain (right insula, cingulate gyrus, somatomotor and somatosensory cortices, nucleus accumbens, left subthalamic nucleus, and left ventral capsule/striatum are all areas of the brain that are involved in palpitations). Other neurological causes of palpitations is the stimulation of the sympathetic nervous system (anxiety and stress can cause inappropriate stimulation of the sympathetic nervous system, which can lead to palpitations). Also another cause it gastrointestinal (bloating or indigestion can irritate the vagus nerve, which can cause palpitations).

[GGGOz]

Actually no, I asked if he had the coronary angiogram and he said no. He said he’s only had echocardiogram, cardiac MRI, and chest X rays. I will tell him to ask his doctors about that.