hATTR amyloidosis is a genetic disorder where proteins go haywire in your body and build up in your nerves and heart.
It’s a rare genetic disease that gets worse over time and can be fatal. It is caused by changes in the transthyretin (TTR) gene.
Because of this trait, the body makes transthyretin proteins that don’t work right. These proteins misfold and build up into amyloid deposits in tissues and organs, which makes them less effective.
For this reason, I am here to explain the symptoms linked to hATTR amyloidosis and diagnosis , natural treatment options.
What is hATTR Amyloidosis ?
Hereditary transthyretin amyloidosis, or hATTR, is a genetic disorder caused by mutations in the TTR gene that causes amyloid proteins to accumulate in tissues and organs.
AL amyloidosis is an autosomal dominant disorder. hATTR is an autosomal dominant disorder, meaning one faulty gene is enough to trigger the disease. Because of the genetic transmission, early detection and family testing is key to transthyretin amyloid cardiomyopathy management.
As you can see, the TTR gene codes for a protein that carries vitamin A and thyroxine throughout your body, primarily produced in the liver. Genetic mutations cause the protein to misfold and form amyloid fibrils that accumulate and damage. The deposits are what makes hATTR different from other amyloid diseases.
Symptoms of hATTR Amyloidosis
Symptoms of hATTR amyloidosis can appear in people 20-70 years old depending on the mutation. Early detection is key.
This can present as either a neuropathic form affecting the peripheral and autonomic nervous systems or as cardiac amyloidosis affecting heart function. Sensory motor neuropathy is common, causing pain, loss of sensation and coordination issues.
Autonomic nerve dysfunction can cause gastrointestinal problems, including alternating diarrhea and constipation, and orthostatic hypotension which can cause dizziness or fainting when standing up quickly.
Look out for these symptoms:
- Pain and numbness and mobility issues from sensory-motor neuropathy.
- Alternating diarrhea and constipation from autonomic neuropathy.
- Bladder issues, including recurrent UTIs.
- Bilateral carpal tunnel syndrome and unexplained peripheral neuropathy.
See your doctor as soon as you notice these symptoms.
How is hATTR Amyloidosis diagnosed
Diagnosing hATTR amyloidosis involves a multi-step process, including patient history, physical examination and various lab tests. Since this is a genetic disease, genetic testing is key to confirming the presence of specific TTR gene mutations.
As mentioned, to assess peripheral neuropathy in hATTR amyloidosis, nerve conduction studies (NCS) and electromyography (EMG) are key.
These tests will tell you the extent of neurological impairment and guide further treatment. For patients with cardiac involvement, standard imaging like echocardiograms and MRIs will show myocardial strain patterns and signal changes indicating amyloid deposits.
When differentiating ATTR amyloidosis from other types, positive results from nuclear scintigraphy scans with technetium-labeled tracers is a confirmatory test.
Genetic Testing and Counselling
If you haven’t shown symptoms but have a family history, consider pre-symptomatic genetic testing. With treatments that can change the course of the disease, this is a no-brainer. It gives you valuable information to take proactive steps and make informed decisions about your future.
According to Medcentral, hATTR amyloidosis can be very common in some places and not at all in others. In some parts of Portugal, Sweden, and Japan, for example, the disease is thought to be widespread, with higher rates of occurrence . In the US, on the other hand, the prevalence is estimated at approximately 1 in 1,000,000 persons.
Along with genetic testing, genetic counselling for patients and relatives is important.
This support helps them understand what it means to inherit these mutations and manage the emotional and psychological stress of having this disease and what lies ahead.
hATTR Amyloidosis Treatment
Studies found that, in the United States, specific mutations such as V122I are more common among certain populations. Approximately 3% to 3.5% of Americans of African descent carry the V122I mutation, which is associated with a higher risk of developing hATTR amyloidosis.
It needs to be managed in a way that includes both disease-specific treatment and supporting care. Many treatments have been cleared by the FDA because of clinical trials. Patients can now have hope again.
For hATTR amyloidosis, there are three main treatment options: TTR Stabilizers, Gene Silencers and Liver Transplantation.
Each targets different aspects of the disease by reducing amyloid deposition and symptoms. Let’s break each down.
TTR Stabilizers
TTR stabilizers work by binding to the TTR protein, stabilizing it and stopping amyloid fibril formation. By stabilizing the TTR protein, these drugs prevent dissociation and reduce amyloid accumulation in the body. This is the key to slowing down hereditary transthyretin amyloidosis.
Recent clinical trials have shown TTR stabilizers to be effective in reducing symptoms and increasing patient survival. More research is needed to develop therapy for hereditary transthyretin related diseases like amyloidosis.
Gene Silencers
Gene silencers are therapies that reduce abnormal TTR protein production, prevent amyloid accumulation in various tissues. By silencing the TTR gene, these treatments minimize protein synthesis.
In some situations, RNA interference therapies like patisiran and inotersen have shown to reduce amyloid buildup and improve outcomes for patients.
By going after the genetic cause of inherited transthyretin amyloidosis, gene silencers are a big deal.
Liver Transplant
Liver transplant is an option for patients with severe hereditary transthyretin mediated amyloidosis as the liver produces most of the hereditary TTR protein. By replacing the liver you can eliminate the source of abnormal protein production.
Assessing liver transplant is important for advanced hATTR amyloidosis.
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Managing Symptoms
This includes drug treatment, gene therapy and lifestyle changes. If diagnosed, build a strong support network with family and friends.
Access to emotional and psychological support is important for patients and families especially during critical times like diagnosis or symptom progression. Managing this complex condition requires a team of specialists from different medical disciplines.
Neuropathy
Neuropathy in hATTR amyloidosis can be debilitating, manifesting as loss of sensation, painful sensations and motor skills difficulties. The impact of sensory motor neuropathy is big, it restricts daily activities and requires specialized management.
Autonomic neuropathy symptoms like digestive issues manifesting as constipation or diarrhea must also be managed.
Cardiac
hATTR amyloidosis patients often have cardiac issues including atrial fibrillation which needs to be monitored and treated to prevent complications. Managing stress is also important for overall heart health.
Go for regular medical check-ups and maintain a heart healthy lifestyle to manage cardiac symptoms and prognosis.
Lifestyle Changes
Eat a balanced diet and exercise regularly to manage symptoms and improve quality of life for hATTR amyloidosis patients. Gentle exercises and leisure activities can also reduce stress and overall well-being.
For hATTR amyloidosis patients, physical activity and healthy diet can make daily living easier.
Clinical Trials and Research
Clinical trials are important for developing new treatment for hATTR amyloidosis. Ongoing research is investigating new therapies and bringing hope to patients. Organizations like Amyloidosis Research Consortium is leading these studies to improve patient care and prognosis.
Research on antisense therapies that address the genetic root of hATTR amyloidosis is exciting. This means new treatment will improve outcomes for amyloidosis patients in the future.
Bottom Line
A very uncommon disease called hereditary transthyretin-mediated (hATTR) amyloidosis is caused by changes in the transthyretin (TTR) gene. Estimates of how common it is around the world vary. Some sources say that about 10,000 people are affected worldwide , while others say the number could be as high as 50,000.
TTR stabilizers, gene silencers and even liver transplant are part of managing this complex disease.
For hATTR amyloidosis patients, It must include medical treatment, lifestyle changes and emotional support.
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