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In addition to physical symptoms, Fabry can have a significant impact on your patients’ mental, emotional, and social well-being.1 Patients may experience feelings of guilt, anger, uncertainty, and frustration—and all of these can affect their day-to-day lives.
“I have to adjust my lifestyle, and yes, it gets me angry and frustrated.”
–Christy,
Mental health concerns should be a factor in every Fabry patient’s treatment journey. The National Society of Genetic Counselors has released guidelines on assessing and managing psychological disorders commonly seen in Fabry patients1:
| Clinical feature | Estimated incidence | Recommended assessments | Management |
|---|---|---|---|
 Depression | 46%-58% in males and females | Symptom review focused on changes over time | Pain management |
 Anxiety/ | 39% in males and females | Every 6-12 months | Refer for supportive counseling |
 Attention-deficit/ | 24% in males and females | Every 6-12 months | Refer for supportive counseling |
 Adaptive functioning disorders | 33% of females
15% of males | Every 6-12 months | Refer for supportive counseling |
Estimated incidence 46%-58% in males and females
Recommended assessments Symptom review focused on changes over time
Management Pain management
Estimated incidence 39% in males and females
Recommended assessments Every 6-12 months
Management Refer for supportive counseling
Estimated incidence 24% in males and females
Recommended assessments Every 6-12 months
Management Refer for supportive counseling
Estimated incidence 33% of females 15% of males
Recommended assessments Every 6-12 months
Management Refer for supportive counseling
Depression is the most common psychological symptom in Fabry patients and is often associated with Fabry symptoms interfering with daily life.1,2
Pain, including neuropathic pain, is a common predictor of depression in Fabry patients.3
“In the last 6 months, I’ve had a lot of issues sleeping. Lot of depression. I don’t think you have to be diagnosed with depression to know when you’re going through it. And I think, the thing is, Fabry is a part-time job… I’m always doing an evaluation of how I feel. It takes a toll. It is a part-time job. It makes me feel anxious.”
–Darrick,
Patients with Fabry also commonly demonstrate adaptive functioning symptoms4:
The National Alliance on Mental Illness (NAMI) can help support your patients with Fabry by providing assistance and education about mental health concerns.
The toll-free NAMI Helpline can also provide free information and support for your patients:
1-800-950-NAMI (6264).
Available Monday-Friday, 10AM-10PM ET.
Fabry can also have a significant impact on your patients’ physical health.
Diagnosing Fabry disease can be difficult, but one diagnosis has the potential to uncover more cases of Fabry in a family. An average of 5 additional patients are identified after the diagnosis of one family member.5
Family planning is a significant decision for any patient with a genetic disease such as Fabry. A genetic counselor may be able to help your patients understand the risks.2
“Because I knew that I had Fabry and told my doctors, both of my daughters were tested at birth. My youngest was diagnosed, and thankfully she has not had any symptoms yet, but we are able to monitor it together because we are aware of the diagnosis. We didn’t know about my son until I was diagnosed and my geneticist encouraged me to have him tested.”
–Rowena,
Starting the conversation
Your patients may not know how to ask their family members to get tested for Fabry disease. To help them get the conversation started, you can suggest that your patient:
Let their family members know that Fabry disease can progress without outward signs—but that it can still do damage below the surface5,6
Share with their family members that both males and females can pass down Fabry5
Offer to attend appointments with their family member for support
Remind their family members that treatment is available, but that it cannot help them until they’re diagnosed—and that begins with a conversation with their doctor
“If I would have known earlier in life that someone in my family was affected with this condition, I would have gotten diagnosed earlier and my symptoms wouldn’t have been a mystery for so long. So make sure that you have that conversation with your immediate family and with your extended family.”
–Rowena,
Encourage your patients to discuss genetic testing with their families—and rethink their current understanding of Fabry.
LEARN MORE ABOUT THE FEMALE FABRY EXPERIENCE
References: 1. Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations from the National Society of Genetic Counselors. J Genet Counsel. 2013;22:555-564. doi:10.1007/s10897-013-9613-3. 2. Schermuly I, Muller MJ, Albrecht J, et al. Neuropsychiatric symptoms and brain structural alterations in Fabry disease. Eur J Neurol. 2011;18(2):347-353. doi:10.1111/j.1468-1331.2010.03155.x. 3. Bolsover FE, Murphy E, Cipolotti L, et al. Cognitive dysfunction and depression in Fabry disease: a systematic review. J Inherit Metab Dis. 2013;37(2):1-11. doi:10.1007/s10545-013-9643-x. 4. Sigmundsdottir L, Tchan MC, Knopman AA, et al. Cognitive and psychological functioning in Fabry disease. Archives of Clinical Neuropsychology. 2014:642-650. doi:10.1093/arclin/acu047. 5. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416-427. doi:10.1016/j.ymgme.2018.02.014. 6. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346. doi:10.7326/0003-4819-138-4-200302180-00014.
