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Understanding the experience of patients with Fabry

The impact of Fabry on your patients’ mental health

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.

Christy Fabry patient headshot Christy Fabry patient headshot Christy Fabry patient headshot

“I have to adjust my lifestyle, and yes, it gets me angry and frustrated.”

–Christy, currently living with Fabry

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 featureEstimated incidenceRecommended assessmentsManagement
Depression46%-58% in males and femalesSymptom review focused on changes over timePain management
Anxiety/ panic attacks39% in males and femalesEvery 6-12 monthsRefer for supportive counseling
Attention-deficit/ hyperactivity disorder24% in males and femalesEvery 6-12 monthsRefer for supportive counseling
Adaptive functioning disorders
33% of females
15% of males
Every 6-12 monthsRefer 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

Darrick Fabry patient headshot Darrick Fabry patient headshot Darrick Fabry patient headshot

“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, currently living with Fabry

Patients with Fabry also commonly demonstrate adaptive functioning symptoms4:

  • Slower speed of information processing
  • Reduced reasoning and problem solving
  • Clinically significant reductions in neuropsychological function

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.

The genetic effect of Fabry—a family disease

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

Graphic showing the inheritance pattern of Fabry. Graphic showing the inheritance pattern of Fabry. Graphic showing the inheritance pattern of Fabry.

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

Rowena Fabry patient headshot Rowena Fabry patient headshot Rowena Fabry patient headshot

“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, currently living with Fabry

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, currently living with Fabry

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.