Hereditary ATTR amyloidosis Talking to your healthcare professional about a hereditary condition
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1 Healthcare Professional Discussion Guide Hereditary ATTR amyloidosis Talking to your healthcare professional about a hereditary condition This guide will give you some tips and strategies to help you start the conversation with your healthcare professional about hereditary ATTR (hattr) amyloidosis
2 For me it was important to know the simple facts Don living with hattr amyloidosis What is hereditary ATTR (hattr) amyloidosis? hattr amyloidosis is caused by a genetic mutation (change within a gene) that affects the function of a protein in the blood called transthyretin (TTR). hattr amyloidosis is passed down through family members in an autosomal dominant fashion, meaning that a person only needs to inherit one copy of the affected gene from one parent in order to develop the condition. When one parent carries an autosomal dominant mutation, any child will have a 50% chance of inheriting that mutation. The hattr amyloidosis education brochure included in your kit provides more in-depth information on how the condition occurs, its hereditary nature, and the symptoms that individuals may experience. 2
3 hattr amyloidosis can cause a range of symptoms The symptoms of hattr amyloidosis can vary widely among people with the same mutation and even within families, though some do see a pattern of symptoms develop. Different symptoms may appear at different times for each individual. The age that initial symptoms appear may vary, ranging from the mid-20s to the mid-60s.
4 The varying symptoms of hattr amyloidosis Individuals with hereditary ATTR amyloidosis may have a range of symptoms that may seem unrelated and can affect several parts of the body, including: The peripheral nervous system, which is made up of nerves that branch out from the brain and spinal cord and communicate with the rest of the body including your arms and legs Polyneuropathy is caused by damage to the nerves of the peripheral nervous system, resulting in improper function he cardiac system, which includes the heart and blood vessels and transports blood through veins and T delivers oxygen to cells in the body Cardiomyopathy is a disease of the heart muscle that leads to heart failure The autonomic nervous system, which is made up of nerves that connect the brain and spinal cord to organs such as the heart, stomach, and intestines, and helps to control bodily functions such as breathing, digestion, and heart rate 4 utonomic dysfunction occurs when the autonomic nervous system is not working correctly A and may affect involuntary bodily functions
5 Which symptoms have you or your family members experienced? Below is a list of symptoms that patients with hattr amyloidosis might experience. Check off which ones you have experienced as well as any that your family members may have experienced. Autonomic Dysfunction Symptoms of autonomic dysfunction include: Myself My Family Urinary tract infections Excessive sweating Dizziness upon standing Sexual dysfunction Nausea and vomiting Diarrhea Severe constipation Unintentional weight loss Polyneuropathy Peripheral neuropathy includes symptoms such as: Myself My Family Tingling Numbness Carpal tunnel syndrome Burning pain L oss of sensitivity to temperature Weakness Kidney dysfunction Cardiomyopathy Symptoms of cardiomyopathy include: Myself My Family Increasing fatigue Dizziness Shortness of breath Leg swelling (edema) Palpitations and abnormal heart rhythms (atrial fibrillation) Chest pain Other Symptoms Myself My Family Glaucoma Blurred or spotty vision A bnormalities of the pupil or blood vessels on the white of the eye Detached retina Progressive dementia Headache Loss of movement control Seizures Stroke-like episodes
6 Start the conversation with your healthcare professional Your healthcare professional should be looking for at least one of the following: Family history of hattr amyloidosis Appearance of symptoms throughout several parts of the body If you experience symptoms or become aware of a family history, speak to your healthcare professional to determine the right plan of action. Be sure to tell your doctor about all the symptoms you are experiencing, even if you think some may not be related or do not apply to the doctor s specialty. Because the condition is rare and affects different parts of the body, it may be necessary for your healthcare professional to refer you to a specialist who is more familiar with hattr amyloidosis. You can use the symptom checklist in this brochure along with the Family Health Tree tool that s included in this kit to map out your family s history of hattr amyloidosis and a list of symptoms, which can help you start the conversation with your healthcare professional. Even if you haven t experienced any symptoms but are aware of a family history, your healthcare professional may refer you to a genetic counselor. 6
7 Ron Sr, living with hattr amyloidosis Learn about genetic counseling Genetic counseling can help you understand your chances of inheriting the condition as well as make you familiar with the testing process and implications of a diagnosis. Genetic counselors can help you understand the issues related to genetic testing from personal risk to possible insurance impact, and can help you determine if a genetic test may be right for you. A genetic test will tell a person if he or she carries a mutation in the TTR gene associated with hattr amyloidosis. Once a gene mutation is identified, family members of an affected individual can use this information to help determine their own risk. Below you can find more information about Alnylam Act, a program sponsored by Alnylam Pharmaceuticals that provides options for genetic testing and counseling. Alnylam Pharmaceuticals is sponsoring third-party genetic testing and counseling programs for individuals who may carry a gene mutation known to be associated with hereditary ATTR amyloidosis at no charge. The Alnylam Act (formerly known as Alnylam Assist ) program was created to potentially enable diagnosis through genetic screening and to provide genetic counseling to help people make more informed decisions about their health. These services are available only in the United States. At no time does Alnylam receive patient-identifiable information. Your doctor will need to sign you up for the Alnylam Act program in order for you to receive genetic screening and counseling at no charge.
8 Valuable resources with a wide range of information Learn more about hattr amyloidosis at Sources for additional information and assistance Amyloidosis Foundation: visit Amyloidosis Support Groups: visit Amyloidosis Research Consortium: visit National Organization for Rare Disorders: visit Global Genes: visit Clinical Trial Information: visit References: Hanna M. Curr Heart Fail Rep. 2014;11(1): Damy T. J Cardiovasc Transl Res. 2015;8(2): Hawkins PN. Ann Med. 2015;47(8): National Institutes of Health: US Department of Health and Human Services. Genetics Home Reference. Transthyretin amyloidosis. Accessed March 22, Ando Y. Orphanet J Rare Dis. 2013;8:31. Coelho T. Curr Med Res Opin. 2013;29(1): Conceição I. J Peripher Nerv Syst. 2016;21(1):5-9. Mohty D. Arch Cardiovasc Dis. 2013;106(10): Shin SC. Mt Sinai J Med. 2012;79(6): Sekijima Y. J Neurol Neurosurg Psychiatry. 2015;86(9): National Institutes of Health: US Department of Health and Human Services. What is cardiomyopathy? Bethesda, MD: National Institutes of Health; Accessed March 22, Alnylam Act is a trademark of Alnylam Pharmaceuticals, Inc Alnylam Pharmaceuticals, Inc. All rights reserved. TTR02-USA
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