The signs and symptoms of hereditary transthyretin amyloidosis (hATTR) are numerous and can affect many major organs1
Although some mutations are associated predominantly with polyneuropathy or cardiomyopathy, most patients with hATTR amyloidosis have mixed clinical phenotypes, including both neurologic and cardiac symptoms.2
Ocular Manifestations1
- Dark floaters
- Glaucoma
- Abnormal blood vessels in eye
- Pupillary abnormalities
Cardiovascular Manifestations1-3
- Irregular heartbeat
- Conduction blocks
- Congestive heart failure (including shortness of breath, generalized fatigue, peripheral edema)
- Ventricular wall thickening with preserved ejection fraction and absence of left ventricular dilation
Spinal Stenosis4
Nephropathy1
- Protein in urine
- Renal failure
GI Manifestations1
- Nausea and vomiting
- Early satiety
- Diarrhea
- Severe constipation
Autonomic Neuropathy1
- Orthostatic hypotension
- Recurrent urinary tract infections (due to urinary retention)
- Sexual dysfunction
- Sweating abnormalities
- Alternating bouts of diarrhea and constipation
Peripheral Sensorimotor Neuropathy1
- Nerve damage beginning in the hands and feet that can progress to the central part of the body
- Peripheral neuropathy generally initiates as a small fiber neuropathy, with more motor involvement as the disease progresses
Cardiovascular Manifestations1-3
- Irregular heartbeat
- Conduction blocks
- Congestive heart failure (including shortness of breath, generalized fatigue, peripheral edema)
- Ventricular wall thickening with preserved ejection fraction and absence of left ventricular dilation
Spinal Stenosis4
Autonomic Neuropathy1
- Orthostatic hypotension
- Recurrent urinary tract infections (due to urinary retention)
- Sexual dysfunction
- Sweating abnormalities
- Alternating bouts of diarrhea and constipation
Peripheral Sensorimotor Neuropathy1
- Nerve damage beginning in the hands and feet that can progress to the central part of the body
- Peripheral neuropathy generally initiates as a small fiber neuropathy, with more motor involvement as the disease progresses
Recognizing the red flags of hATTR amyloidosis
Because the symptoms of hATTR amyloidosis do not always start in one specific organ, the systemic nature of the disease is often masked. As a result, it is important to look for a cluster of red-flag symptoms1,5
Progressive, symmetric Sensorimotor polyneuropathy1-3
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One or more of the following:
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Red-flag symptoms for hATTR Amyloidosis
In Life-Threatening hATTR Amyloidosis, Hope Starts With Diagnosis.1
References: 1. 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. 2. Gertz MA. Hereditary ATTR amyloidosis: burden of illness and diagnostic challenges. Am J Manag Care. 2017;23(suppl 7):S107-S112. 3. Coelho T, Ericzon B-G, Falk R, et al. A guide to transthyretin amyloidosis. Amyloidosis Foundation. http://www.amyloidosis.org/wp-content/uploads/2017/05/2017-ATTR-guide.pdf. Accessed February 14, 2018. 4. Donnelly JP, Hanna M. Cardiac amyloidosis: an update on diagnosis and treatment. Cleve Clin J Med. 2017;84(12 suppl 3):12-26. 5. Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31.