Monitoring early hATTR-PN symptoms: A guide to effective communication
Fact-checked by Recognizing early hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) symptoms can make a significant difference in how you manage the condition.
This rare genetic disease affects peripheral nerves throughout your body, and early symptoms often develop gradually. Because they can be subtle, they’re sometimes overlooked or attributed to other causes.
Learning to identify hATTR-PN symptoms and track changes over time can help you and your healthcare providers decide which diagnostic tests or treatments may be most helpful.
Early symptoms of hATTR-PN
A common early feature of hATTR-PN is peripheral sensory-motor neuropathy, or nerve damage in the motor and sensory nerves that affects both sensation and movement. Symptoms may include:
- tingling, numbness, or burning sensations
- difficulty sensing temperature changes
- difficulty in walking/coordination
Muscle weakness in the lower legs and feet is an early sign of hATTR-PN. You might notice tripping more often, difficulty climbing stairs, and leg fatigue.
Additionally, some early symptoms stem from involvement of the autonomic nervous system, which can seem unrelated to nerve damage. These early signs may include:
- persistent gastrointestinal issues (diarrhea or constipation)
- unintentional weight loss
- sexual dysfunction
- dry eyes and mouth
Carpal tunnel syndrome is also common in hATTR-PN. You may experience numbness, tingling, or pain in your hands or wrists.
How to monitor hATTR-PN symptoms effectively
Monitoring hATTR-PN symptoms involves paying attention to both new developments and changes in existing symptoms. Keeping a detailed symptom diary can provide valuable information for your healthcare team and help reveal patterns that might not be obvious during brief office visits.
Consider tracking:
- when each symptom started
- changes in severity over time
- what makes symptoms better or worse
- how symptoms affect your daily life
Record the severity using a simple scale, such as mild, moderate, or severe. This approach helps you and your healthcare providers assess whether symptoms are progressing or responding to treatment.
You can also document what makes symptoms better or worse. For example, you might notice that burning sensations in your feet intensify at night or that certain activities trigger muscle weakness.
Include information about how symptoms affect your daily activities. Can you still complete tasks that were previously routine? Have you needed to modify how you do things, or have you started using assistive devices? These are all critical details that can help your healthcare team better understand the impact hATTR-PN has on your life.
Don’t overlook symptoms that seem unrelated to nerve damage. Because hATTR-PN can affect multiple organ systems, including the heart, digestive system, and kidneys, seemingly unconnected issues may actually be part of the disease process.
Benefits of early symptom monitoring
The progressive nature of hATTR-PN means that nerve damage accumulates over time. The earlier treatment begins, the better your chance of preserving nerve function. This is because disease-modifying therapies can slow or stop disease progression. However, they cannot reverse damage that has already occurred.
For example, if you notice increasing numbness in your feet, early documentation can help your healthcare team adjust your treatment plan before the numbness progresses and affects your balance or mobility.
Regular symptom monitoring also helps your healthcare team evaluate how well your treatment is working. Tracking symptoms over time helps determine whether your current therapy is effective or if it needs to be modified.
For people with a family history of hATTR-PN or those who carry a known TTR mutation, symptom monitoring serves an additional purpose. It can help detect the disease in its earliest stages, when intervention may have the greatest impact on long-term outcomes.
How hATTR-PN symptoms affect daily life
Living with hATTR-PN means learning to adjust as symptoms make it more challenging to complete everyday tasks.
Sensory changes can affect your safety. For example:
- Changes in temperature sensation may increase your risk of burns or frostbite.
- Numbness in your feet can make it harder to notice injuries, which may lead to complications if left untreated.
In these cases, you can help prevent these risks by testing water temperature before bathing or inspecting your feet daily.
Similarly, muscle weakness can make common activities more difficult, such as:
- climbing stairs or getting up from a seated position
- carrying groceries or lifting objects
- buttoning clothes, using utensils, or typing on a keyboard
Autonomic symptoms can also disrupt your daily life. Digestive issues may affect your nutrition and social activities, and dizziness upon standing can increase your risk of falls. These symptoms often require specific management strategies and may benefit from targeted treatments.
The cumulative effect of multiple symptoms can make it more challenging to work, engage in hobbies, and participate in social activities.
Discussing symptoms with your healthcare team
Instead of using vague terms when describing your hATTR-PN symptoms, be as specific as possible. For instance, rather than saying “my feet hurt,” try “I have burning pain in the soles of both feet that’s worse at night and makes it hard to sleep.”
Bring your symptom diary to appointments and be prepared to discuss changes since your last visit. If you’ve noticed new symptoms or a worsening of existing ones, mention this early in the conversation so your healthcare provider has time to address them.
If you have a family history of hATTR-PN, make sure your healthcare providers are aware of this connection. Because hATTR-PN is an autosomal dominant disorder — meaning it can arise if one of the two TTR gene copies, inherited from each parent, is mutated — family history is an important diagnostic clue.
Genetic counseling may be recommended to help you understand the implications for family members.
How caregivers can support symptom monitoring
Family members and caregivers can play an important role in monitoring hATTR-PN symptoms. In many cases, loved ones may notice changes that you don’t, particularly gradual developments that occur over time, such as problems with your gait or difficulty completing tasks.
Caregivers can help maintain symptom diaries, especially if you have difficulty writing due to hand involvement. They can also attend medical appointments to provide additional perspective on how symptoms affect your daily life and to help remember any important information your provider discusses during the visit.
Caregivers are there not just to help with daily tasks, but also to provide emotional support as you navigate life with hATTR-PN. If you and your loved ones have questions or just need to talk, organizations like the Amyloidosis Research Consortium and the Amyloidosis Foundation offer information, community, and support.
Amyloidosis News Today also offers you additional information about the condition, the latest news, and firsthand reports from people affected by hATTR-PN.
Amyloidosis News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
