There are 3 main steps in the pathway to diagnosing any medical condition. To get to a diagnosis, doctors will:
- Ask about your medical history and symptoms
- Perform a physical examination
- Do tests and conduct investigations
This week, we’re going to focus on steps 1 and 2. Whether you already have a diagnosis of amyloidosis or are still seeking one, you’ll likely have gone through these 3 steps a fair few times and with different doctors. This information is intended to help you understand past experiences and, importantly, to help you prepare for future appointments with healthcare professionals (HCPs).
Step 1: Lots of questions
Your ‘medical history’
To start with, your doctor will ask lots of very detailed questions about your health, starting with the present day and going as far back as you can remember. When taking a medical history, the goal is to gather comprehensive information about your health. The questions are usually categorised as follows:
1. Your main health problem (‘presenting complaint’)
- What brings you in today?
- How long have you been experiencing this problem?
- Has it gotten better or worse over time?
2. More about your main health problem (‘history of presenting complaint’)
- When did the symptoms start? (‘onset’)
- Where do you feel the symptoms? (‘location’)
- How long do they last? (‘duration’)
- How would you describe the symptoms, e.g., sharp, dull, burning? (‘character’)
- What makes it worse or better? (‘aggravating or alleviating factors’)
- Does the pain/sensation spread anywhere? (‘radiation’)
- Is it constant or does it come and go? (‘timing’)
- On a scale of 1-10, how bad is it? (‘severity’)
These questions are designed to find out as much as possible about your current problem. This is a really important first step in helping your doctor to both rule out certain conditions and to start to put together a mental list of possible diagnoses, or ‘differential diagnoses’. Next, the questioning focuses on other health problems you might have or have had previously.
3. Other health issues apart from the current one (‘past medical history’)
- Have you been diagnosed with any medical conditions?
- Have you had any major illnesses?
- Have you ever been admitted to hospital?
- Do you have any ongoing or chronic health conditions?
4. Any surgical procedures you’ve had (‘past surgical history’)
- Have you had any surgeries or procedures?
- When did you have them?
- Were there any complications?
Answers to these questions will help identify whether your current health issue might be related to previous problems. This is where ‘red flag’ symptoms start to come to light. Red flag symptom clusters refer to a collection of signs and manifestations that may not seem related, but when considered altogether, they point with high likelihood to a particular condition or disease. At this stage the list of differential diagnoses should start to shorten.
5. What medicines you are taking (‘drug history’)
- Are you taking any prescribed or over-the-counter medication, or supplements?
- What is the dosage and how often do you take them?
- How long have you been taking them?
- Have you had any side effects from the medications?
This is to work out whether any of your medications, might be causing or contributing to the problems you’re having. There are some mediations that should be avoided if you have amyloidosis, so if your doctor thinks you could have it they might want to make some changes.
6. Health problems in your family (‘family history’)
- Do any close family members have medical conditions?
- Are there any genetic conditions that run in your family?
Some forms of amyloidosis that hereditary, which means they are passed down in families. So if others in your family have or have had similar problems, this significantly helps narrow down the list of differentials. It also would mean that members of your family might need to seek medical advice and tests.
7. Daily life (‘social history’)
- What is your daily routine like?
- Do you follow a particular diet? How often do you exercise?
- Do you smoke or vape? How often do you drink alcohol and how much? Do you use any recreational drugs?
- What do you do for work? Are you exposed to any health risks?
- Who do you live with? Do you have a strong support system?
- Have you recently traveled outside the country?
This tells the doctor about whether any of your usual habits and activities might be causing or contributing to the current problems. It also reveals how much the symptoms are impacting your ability to carry on with life as usual, and whether you might need some help at home.
8. Other
Your doctor will also ask about allergies, your mental health and other bodily systems.
Your ‘review of systems’
- Have you had any unexpected weight loss, fever, or fatigue? (‘general’)
- Do you get chest pain, palpitations, breathless or swelling in your legs? (‘cardiovascular’)
- Do you get breathless for no reason, cough, or wheeze? (‘respiratory’)
- Have you had nausea, vomiting, diarrhoea, or constipation? (‘gut/gastrointestinal’)
- Have you noticed changes in sweating, headaches, dizziness, or numbness? (‘neurological’)
- Do you have joint or muscle pain, stiffness, or swelling? (‘musculoskeletal’)
- Have you had any pain or difficulty passing urine, or sexual problems? (‘genitourinary’)
- Have you had changes in energy levels, thirst or sensitivity to temperature changes? (‘endocrine’)
At this stage your doctor is moving away from your main problem and wants to know what other issues there are that might reveal more red flags, adding pieces to the puzzle. This particular way of questioning is more systematic – they are going through the list of organ systems, asking directed questions. This part of the assessment might reveal symptoms you forgot to mention or didn’t think were important. They would also reveal ‘signs’ – signs are objective evidence of a disease or condition that are revealed by verbal or physical examination. They are different from symptoms, which are reported by the patient and may be subjective.
Step 2: Getting physical
The physical examination adds more pieces to the puzzle by revealing ‘signs’. Signs are objective evidence of a disease or condition that are revealed by verbal or physical examination. They are sometimes different from symptoms, which are reported by the patient and may be subjective.
The physical exam involves observing, feeling or listening to different parts of the body. This will help confirm symptoms and other information provided during the history-taking part, as well as reveal signs that are specific to amyloidosis in general or to particular types of amyloidosis. Some examples are below.
Chest
- Listening to the heart with a stethoscope might reveal abnormal heart rhythm, arrhythmia which is common in the types of amyloidosis that commonly affect the heart, AL and ATTR
Abdomen (tummy)
- Liver swelling can often be found in AL amyloidosis, and also in rare in hereditary types like ApoA
Skin
- Bruising around the eyes, ‘raccoon eyes’ is very common in AL amyloidosis
- Skin rashes brought on by cold temperature could point to an autoinflammatory condition and AA amyloidosis
- Drooping skin on the face and other parts of the body is caused by AGel amyloidosis
Musculoskeletal (muscles and bones) and nerves
- Pins and needles or loss of sensitivity in the hands and feet indicate problems with the sensory nerves (the ones involved in touch, pressure and pain). Muscle weakness can be due to a problem with the motor nerves, the ones involved with movement. Taken together, this is called ‘sensorimotor neuropathy’ – and is common in AL and ATTR amyloidosis.
- Some early manifestations of ATTR amyloidosis are carpal tunnel syndrome, trigger finger, biceps muscle tears and severe lower back pain caused by spinal stenosis. All of these are caused by amyloid depositing in the soft tissue – muscles, tendons, ligaments.
Other
- A large or swollen tongue with teeth marks on the sides is a key sign of AL amyloidosis.
Summary
Amyloidosis is tricky to diagnose because its symptoms look like many other diseases. While it is important for doctors, nurses and other HCPs to be educated about amyloidosis, its as important for you to be as prepared as possible when you go to see the doctor.
Write down what symptoms you have in as much detail as possible. Also write down any health problems you and your family members have had in the past. Get help help from a family member or friend if needed, as sometimes they notice things about you that you aren’t aware of. Take them with you to see the doctor if that helps! Having this information to hand will make sure you don’t forget anything and will also be really helpful to your doctor. It will help you get the most out of the time you have with your doctor.
Our advice is to follow this structured approach with any healthcare appointment you may have. If you are still seeking a diagnosis, showing up with all of this information to hand might help your doctor get to a diagnosis a bit sooner. If you’re living with amyloidosis, keeping track of ongoing and new symptoms will help your healthcare team understand whether and aspects of your treatment need to change. Early diagnosis, and early detection of changes in your condition can make a big difference to treatment and to your overall health and wellbeing.
Next week: Step 3 in the Path to Diagnosis — Tests and investigations.
