Transthyretin Familial Amyloid Polyneuropathy - Pfizer · Transthyretin Familial Amyloid...

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Transthyretin Familial Amyloid Polyneuropathy: Do You Have a Family Connection? If left untreated, TTR-FAP causes death due to complications from the disease within 10 years of the onset of symptoms, on average. 2,3 Since TTR-FAP runs in families, individuals with a family history of the disease should be aware of the symptoms and work with their doctor so that, if symptoms occur, a diagnosis can be made as early as possible. TTR-FAP is inherited from a biological parent who may or may not have symptoms of the disease but carries the genetic mutation. 4,5 If You Are a Caregiver: The Importance of Taking Care of Yourself Did you know that a majority of caregivers (61%) have reported having symptoms of transthyretin amyloidosis? 6 We understand that the prospect of possibly having TTR-FAP, especially when you care for a family member with the disease, may be overwhelming and frightening. However, it’s important to take time for yourself and maintain your own health. This includes educating yourself about the symptoms of TTR-FAP and talking to your doctor about your risk. Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, genetic, and often fatal neurodegenerative disease. While TTR-FAP has been estimated to affect 10,000 people worldwide, the actual prevalence may be much higher. 1 Nonspecific Symptoms Make Diagnosis Challenging TTR-FAP symptoms are nonspecific and often start with numbness in the feet, a decrease in temperature sensation, and pin-prick feelings 4 —symptoms that can also be caused by injury, infection, other neurological conditions, or even more common diseases, like diabetes. 7 This, plus low awareness around the disease, makes diagnosis challenging. It can take several years from when symptoms start to receive an accurate diagnosis. 2, 5, 8, 9, 10 TTR-FAP is a relentlessly progressive disease, 8 so the earlier you speak with your doctor and seek treatment, the better — before symptoms progress and become severe. 11,12 Pfizer Rare Disease is proud to work with Rare Disease patients to highlight them in our photographs. PP-RDP-USA-0125-01

Transcript of Transthyretin Familial Amyloid Polyneuropathy - Pfizer · Transthyretin Familial Amyloid...

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Transthyretin Familial Amyloid Polyneuropathy:Do You Have a Family Connection?

If left untreated, TTR-FAP causes death due to complications from the disease within 10 years of the onset of symptoms, on average.2,3

Since TTR-FAP runs in families, individuals with a family history of the disease should be aware of the symptoms and work with their doctor so that, if symptoms occur, a diagnosis can be made as early as possible.

TTR-FAP is inherited from a biological parent who may or may not have symptoms of the disease but carries the genetic mutation.4,5

If You Are a Caregiver: The Importance of Taking Care of Yourself

Did you know that a majority of caregivers (61%) have reported having symptoms of transthyretin amyloidosis?6

We understand that the prospect of possibly having TTR-FAP, especially when you care for a family member with the disease, may be overwhelming and frightening.

However, it’s important to take time for yourself and maintain your own health. This includes educating yourself about the symptoms of TTR-FAP and talking to your doctor about your risk.

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, genetic, and often fatal neurodegenerative disease. While TTR-FAP has been estimated to

affect 10,000 people worldwide, the actual prevalence may be much higher.1

Nonspecific Symptoms Make Diagnosis Challenging

TTR-FAP symptoms are nonspecific and often start with numbness in the feet, a decrease in temperature sensation, and pin-prick feelings4—symptoms that can also be caused by injury, infection, other neurological conditions, or even more common diseases, like diabetes.7

This, plus low awareness around the disease, makes diagnosis challenging. It can take several years from when symptoms start to receive an accurate diagnosis.2, 5, 8, 9, 10

TTR-FAP is a relentlessly progressive disease,8 so the earlier you speak with your doctor and seek treatment, the better — before

symptoms progress and become severe.11,12

Pfizer Rare Disease is proud to work with Rare Disease patients to highlight them in our photographs.PP-RDP-USA-0125-01

Page 2: Transthyretin Familial Amyloid Polyneuropathy - Pfizer · Transthyretin Familial Amyloid Polyneuropathy: Do You Have a Family Connection? If left untreated, TTR-FAP causes death due

1. Schmidt H, Waddington Cruz M, Botteman MF, et al. Global epidemiology of transthyretin familial amyloid polyneuropathy: A systematic review. Poster presented at the XV International Symposium on Amyloidosis, Jul 3-7, 2016, Uppsala, Sweden. 2. Planté-Bordeneuve V, Ferreira A, Lalu T, et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology. 2007;69:693-698. 3. Coelho T, Maia LM, Martins da Silva A, et al. Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy. J Neurol. 2013;260(11):2802-2814. 4. Sekijima Y, Yoshida K, Tokuda T, Ikeda S. Familial transthyretin amyloidosis. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2009. http://www.ncbi.nlm.nih.gov/. Accessed April 27, 2016. 5. Shirota Y, Iwata A, Ishiura H, et al. A case of atypical amyloid polyneuropathy with predominant upper-limb involvement with diagnosis unexpectedly found at lung operation. Intern Med. 2010;49:1627-1631. 6. Stewart M, Loftus J, Lenderking WR, et al. Characterizing disease burden in an ultra-rare disease in the U.S. Poster presented at: ISPOR 16th Annual European Congress, November 4-6; 2013, Dublin, Ireland. 7. National Institute of Neurological Disorders and Stroke. Peripheral Neuropathy Fact Sheet. http://www.ninds.nih.gov/disorders/peripheralneuropathy/detail_peripheralneuropathy.htm. Accessed June 9, 2016. 8. Planté-Bordeneuve V. Update in the diagnosis and management of transthyretin familial amyloid polyneuropathy. J Neurol. 2014;26:1227-1233. 9. Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007;36:411-423. 10. Pareyson D. Diagnosis of hereditary neuropathies in adult patients. Neurology. 2003;250:148-160. 11. Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31. 12. Lindgren M, Sörgjerd K, Hammarström P. Detection and characterization of aggregates, prefibrillar amyloidogenic oligomers, and protofibrils using fluorescence spectroscopy. Biophys J. 2005;88:4200-4212. 13. Conceição I, González-Duarte A, Obici L, et al. “Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016;21(1):5-9.

Visit www.ttr-fapconnection.com for more information and additional resources.

What to Watch For

• Prepare a detailed family history

• Track symptoms you are experiencing, along with their frequency and severity

• Prepare a list of questions to discuss with your doctor

• Use the TTR-FAP Dialogue Builder at www.ttr-fapconnection.com/dialogue-builder to help guide your conversation

• Family history of neuropathy

• Early dysfunction of the autonomic nervous system, which regulates unconscious bodily functions such as breathing, heart rate, and digestion

• Cardiac involvement

• Diarrhea

• Constipation

• Unexplained weight loss

• Carpal tunnel syndrome

• Renal impairment (also known as kidney failure or renal insufficiency)

• Vitreous opacity (“floaters” in the eye)13

There are clusters of clinical symptoms that should raise suspicion of a possible TTR-FAP diagnosis. These “red flag” symptom combinations include the presence of progressive peripheral sensory-motor polyneuropathy and at least one of the following:

Talk to Your Doctor

If you have a family history of TTR-FAP, talk to your doctor about your risk. If suspected, the diagnosis of TTR-FAP can be confirmed by genetic screening, which is a simple blood test.4,5

It is important to build a strong dialogue with your doctor and make each visit a productive and informative one. Before each visit, make sure you

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