hATTR Amyloidosis – About, Symptoms, Diagnosis & Treatment

1. hATTR Amyloidosis – Everything You Need to Know hATTR amyloidosis is a genetic disease that causes the liver to produce a higher amount of the misfolded transthyretin (TTR) protein than it normally should. This results in the accumulation of this abnormal protein in the nerves, the gastrointestinal tract, and the heart. This disease is rare and is seldom diagnosed in a person with no prior history of the disease in their families. It is life-threatening, but treatable if diagnosed at the right time. If you are of Portuguese descent and some of your family members have a history of hATTR amyloidosis, it is quintessential to be well equipped with the correct information and how to go about the treatment. SYMPTOMS Since misfolded transthyretin (TTR) affects different parts of the body, symptoms can sometimes be hard to pinpoint. However, here are some signs that will hint its presence: 1. Brain: A clear indication of progressively worsening dementia, headaches, fatigue, seizures, and stroke-like incidents. 2. Gastro-Intestinal: Symptoms in this area include nausea, vomiting, diarrhea, constipation, sudden and visible weight-loss, and other appetite-related dysfunctions. 3. Kidneys: A good indicator of hATTR Amyloidosis is also a foamy or cloudy tinge in your urine. This is due to the production of excess proteins in your body. It could also be accompanied by kidney failures in extreme but rare cases. 4. Motor Functions: The extremities of your limbs will start to feel numb when soon after the onset of hATTR Amyloidosis. This would lead to Carpel Tunnel syndrome, swelling in the legs and arms, immense pain, changing mobility, etc. 5. Vision: Glaucoma, blurring and spotting vision, blood vessel disorders, and pupil dysfunction are also precursors of hATTR Amyloidosis. 6. Heart: hATTR amyloidosis can result in heart failures in extreme cases. In relatively milder cases, heart valve leaks and irregular heartbeat are more common. However, these symptoms will progressively worsen and turn into Cardiomyopathy and thickening of the heart muscle. 7. Abdominal Function: You may experience abdominal sweating, Urinary Tract Infections, or an inability to perform sexual functions. hATTR Amyloidosis can sometimes cause a drop in blood pressure while standing up after a long sitting.

2. DIAGNOSIS It is crucial to get diagnosed early for this disease as once it progresses, there is a sharp decline in the patient’s health. However, as the symptoms for hATTR Amyloidosis are so varied, misdiagnosis is common. To ensure that this disease never becomes life-threatening, the focus should be on blood testing, organ and tissue biopsies, and genetic testing. It can help an entire family by enabling them to assess their potential risks for the disease as well. Remember, a person whose parent carries the mutated gene stands 50% chances of inheriting it. TREATMENT As of now, no medicines have been approved by the FDA for complete treatment of hATTR amyloidosis, but its symptoms can be muted to a significant extent. Each plan of treatment is individualized for every patient’s symptoms, and liver transplants are often advised. Some doctors may recommend TTR Tetramer Stabilizers, RNA Interference Therapeutics, and Antisense Oligonucleotides (ASOs). The earlier the diagnosis is made, the lesser invasive the treatment becomes. If you’re a Canadian citizen showing one or more symptoms discussed above, or have a family history of hATTR Amyloidosis, you can conduct a risk survey on your own at hattr.ca. This resourceful website has everything you need to tackle hATTR Amyloidosis.