Think Fabry, think timely testing first

Testing for Fabry is straightforward1,2

A blue silhouette of a male figure
  • α-GAL A enzyme assay and/or GLA gene sequencing
  • In males, testing with genetic sequencing can identify the family gene variant
An orange silhouette of a female figure

In females, GLA gene sequencing is required for diagnosis, as affected females may have normal to low enzyme activity.

In patients with unexplained hypertrophic cardiomyopathy (HCM), consider testing with an HCM panel that includes the GLA gene.

Explore testing options

Think Fabry, think reducing diagnostic delays to help lower the risk of irreversible complications

Though early diagnosis and treatment of Fabry disease are key to reducing the risk of irreversible complications, delays are still prevalent.1,3,4

  • Patients with Fabry disease must often visit multiple specialists to obtain a correct diagnosis5
  • Some patients may not obtain a correct Fabry disease diagnosis for more than 20 years3
A timeline showing the median ages of Fabry disease symptom onset, diagnosis, and first ERT for both males and females

ERT, enzyme replacement therapy.

An accurate diagnosis allows for appropriate disease management

In childhood, symptoms can be confused with*5:

A blue silhouette of a child figure with numbers located on different parts of the body that correspond to common misdiagnoses related to symptoms

Rheumatic Fever

  • Symptoms—pain accompanied by fever and elevated erythrocyte sedimentation rate

Raynaud’s
 Syndrome

  • Symptoms—pain and temperature sensitivity

Diarrhea or predominant Irritable
Bowel Syndrome (IBS)

  • Symptoms—abdominal pain, diarrhea, nausea, and vomiting

Erythromelalgia, Neurosis, or
 Growing Pains

  • Symptoms—unexplained, acute pain in extremities or pain with no apparent cause

Rheumatoid or Juvenile Arthritis

  • Symptoms—pain accompanied by fever, joint pain

In adulthood, symptoms can be confused with*7:

An orange silhouette of a female figure and blue silhouette of a male figure with numbers located on different parts of the body that correspond to common misdiagnoses related to symptoms

Fibromyalgia, Headache, Migraine, or Diabetic Neuropathy

  • Symptoms—neuropathic pain

Multiple
 Sclerosis

  • Symptoms—peripheral pain, often triggered by stress, heat, fatigue; white matter lesions on brain MRI8

Diabetes Mellitus, Arterial Hypertension, or Systemic Lupus Erythematosus

  • Symptoms—proteinuria/progressive renal failure

Gastritis, Celiac Disease, Crohn’s Disease, or Irritable Bowel Syndrome (IBS)

  • Symptoms—abdominal pain, diarrhea, constipation, or delayed intestinal passage

Fucosidosis, Sialidosis, or N-Acetylgalactosamine Deficiency

  • Symptoms—angiokeratoma

Rheumatic Disorders

  • Symptoms—neuropathic pain, lymphedema, uveitis, or cardiomyopathy

*Selected range of possible differential diagnoses.

Think Fabry, think screening at-risk family members1

Clinical and genetic screening of family members can decrease time to diagnosis for at-risk family members and ensure earlier and more effective disease-specific management of Fabry disease before progression.1,9

Create a detailed family history following the X-linked inheritance pattern to identify at-risk family members9

A family history chart that follows the X-linked inheritance pattern of Fabry disease to identify at-risk family members
A healthcare provider sitting down and talking to a mother with a child on their lap

Adapted from Laney D and Fernoff P. 2008.9

5 additional family members are newly diagnosed (previously undiagnosed) on average through family screening of one Fabry index patient.8

Blanca, a female Fabrazyme® (agalsidase beta) patient

“At least 12 members of my family ended up having Fabry – including my mom and my niece... and my daughter, Sophia, who was diagnosed when she was 6 years old.”

Blanca, a real Fabrazyme patient

Review treatment guidelines and monitoring for Fabry >

A male wearing a yellow long sleeve shirt, dark jeans, and white shoes walking

IMPORTANT SAFETY INFORMATION

IMPORTANT SAFETY INFORMATION

WARNING: HYPERSENSITIVITY REACTIONS INCLUDING ANAPHYLAXIS

Patients treated with enzyme replacement therapies have experienced life-threatening hypersensitivity reactions, including anaphylaxis. Anaphylaxis has occurred during the early course of enzyme replacement therapy and after extended duration of therapy.

Initiate FABRAZYME in a healthcare setting with appropriate medical monitoring and support measures, including access to cardiopulmonary resuscitation equipment. If a severe hypersensitivity reaction (e.g. anaphylaxis) occurs, discontinue FABRAZYME and immediately initiate appropriate medical treatment, including use of epinephrine. Inform patients of the symptoms of life-threatening hypersensitivity reactions, including anaphylaxis and to seek immediate medical care should symptoms occur [see Warnings and Precautions (5.1)].

 

WARNINGS AND PRECAUTIONS

Hypersensitivity Reactions Including Anaphylaxis

In clinical trials and post-marketing experience, approximately 1% of patients developed anaphylactic or severe hypersensitivity reactions, some life-threatening, during Fabrazyme infusion. Reactions have included localized angioedema (including swelling of the face, mouth, and throat), bronchospasm, hypotension, generalized urticaria, dysphagia, rash, dyspnea, flushing, chest discomfort, pruritus, and nasal congestion. Consider pretreating with antihistamines, antipyretics, and/or corticosteroids; however, reactions may still occur.

In Fabrazyme clinical trials, some patients developed IgE antibodies or skin test reactivity specific to Fabrazyme.

  • Higher incidences of hypersensitivity reactions were observed in adult patients with persistent anti-Fabrazyme antibodies, and in those with high antibody titers compared with antibody negative adult patients.
  • Consider testing for IgE antibodies in patients who experienced suspected hypersensitivity reactions and consider the risks and benefits of continued treatment in patients with anti-Fabrazyme IgE antibodies. Rechallenge of these patients should only occur under the direct supervision of qualified personnel, with appropriate medical support measures readily available.

Infusion-Associated Reactions

In Fabrazyme clinical trials, 59% of patients experienced infusion-associated reactions (IARs), some of which were severe. IARs are defined as those occurring on the same day as the infusion. The incidence of these reactions was higher in patients who were positive for anti-Fabrazyme antibodies than those negative for anti-Fabrazyme antibodies.

  • Consider pretreatment with antipyretics, antihistamines, and/or corticosteroids to reduce the risk of IARs; however, they may still occur.
  • If a mild or moderate IAR occurs, consider holding the infusion temporarily, decreasing the infusion rate, and/or reducing the Fabrazyme dosage. If a severe IAR occurs, discontinue Fabrazyme immediately and initiate appropriate medical treatment as needed. Assess the risks and benefits of readministering Fabrazyme and monitor patients closely if readministering.
  • Patients with advanced Fabry disease may have compromised cardiac function, which may predispose them to a higher risk of severe complications from IARs. Closely monitor patients with compromised cardiac function receiving Fabrazyme.

Common Adverse Reactions

Adverse reactions reported (≥20%) were upper respiratory tract infection, chills, pyrexia, headache, cough, paresthesia, fatigue, peripheral edema, dizziness, and rash.

Please see full Prescribing Information, including Boxed WARNING

IMPORTANT SAFETY INFORMATION

Show more

IMPORTANT SAFETY INFORMATION

WARNING: HYPERSENSITIVITY REACTIONS INCLUDING ANAPHYLAXIS

Patients treated with enzyme replacement therapies have experienced life-threatening hypersensitivity reactions, including anaphylaxis. Anaphylaxis has occurred during the early course of enzyme replacement therapy and after extended duration of therapy.

Initiate FABRAZYME in a healthcare setting with appropriate medical monitoring and support measures, including access to cardiopulmonary resuscitation equipment. If a severe hypersensitivity reaction (e.g. anaphylaxis) occurs, discontinue FABRAZYME and immediately initiate appropriate medical treatment, including use of epinephrine. Inform patients of the symptoms of life-threatening hypersensitivity reactions, including anaphylaxis and to seek immediate medical care should symptoms occur [see Warnings and Precautions (5.1)].

 

WARNINGS AND PRECAUTIONS

Hypersensitivity Reactions Including Anaphylaxis

In clinical trials and post-marketing experience, approximately 1% of patients developed anaphylactic or severe hypersensitivity reactions, some life-threatening, during Fabrazyme infusion. Reactions have included localized angioedema (including swelling of the face, mouth, and throat), bronchospasm, hypotension, generalized urticaria, dysphagia, rash, dyspnea, flushing, chest discomfort, pruritus, and nasal congestion. Consider pretreating with antihistamines, antipyretics, and/or corticosteroids; however, reactions may still occur.

In Fabrazyme clinical trials, some patients developed IgE antibodies or skin test reactivity specific to Fabrazyme.

  • Higher incidences of hypersensitivity reactions were observed in adult patients with persistent anti-Fabrazyme antibodies, and in those with high antibody titers compared with antibody negative adult patients.
  • Consider testing for IgE antibodies in patients who experienced suspected hypersensitivity reactions and consider the risks and benefits of continued treatment in patients with anti-Fabrazyme IgE antibodies. Rechallenge of these patients should only occur under the direct supervision of qualified personnel, with appropriate medical support measures readily available.

Infusion-Associated Reactions

In Fabrazyme clinical trials, 59% of patients experienced infusion-associated reactions (IARs), some of which were severe. IARs are defined as those occurring on the same day as the infusion. The incidence of these reactions was higher in patients who were positive for anti-Fabrazyme antibodies than those negative for anti-Fabrazyme antibodies.

  • Consider pretreatment with antipyretics, antihistamines, and/or corticosteroids to reduce the risk of IARs; however, they may still occur.
  • If a mild or moderate IAR occurs, consider holding the infusion temporarily, decreasing the infusion rate, and/or reducing the Fabrazyme dosage. If a severe IAR occurs, discontinue Fabrazyme immediately and initiate appropriate medical treatment as needed. Assess the risks and benefits of readministering Fabrazyme and monitor patients closely if readministering.
  • Patients with advanced Fabry disease may have compromised cardiac function, which may predispose them to a higher risk of severe complications from IARs. Closely monitor patients with compromised cardiac function receiving Fabrazyme.

Common Adverse Reactions

Adverse reactions reported (≥20%) were upper respiratory tract infection, chills, pyrexia, headache, cough, paresthesia, fatigue, peripheral edema, dizziness, and rash.

Please see full Prescribing Information, including Boxed WARNING

INDICATION AND USAGE

Fabrazyme® is indicated for the treatment of adult and pediatric patients 2 years of age and older with confirmed Fabry disease.

References: 1. Ortiz A, et al. Mol Genet Metab. 2018;123(4):416-427. 2. Biegstraaten M, et al. OrphanetJ Rare Dis. 2015;10:36. 3. Wilcox WR, et al. Mol Genet Metab. 2008;93(2):112-128. 4. Mehta A, et al. J Med Genet. 2009;46(8):548-552. 5. Germain DP. Orphanet J Rare Dis. 2010;5:30. 6. Thurberg BL, et al. Hum Pathol. 2012;43(4):610-614. 7. Hoffmann B, Mayatepek E. Dtsch Arztebl Int. 2009;106(26):440-447. 8. Colomba P et al. Oncotarget. 2018;9:7758-7762. 9. Laney D and Fernhoff P. J Genet Counsel. 2008;17:79–83.