Fabry Disease

Description

Other Names

Anderson-Fabry disease
Angiokeratoma corporis diffusum
Angiokeratoma diffuse
Alpha-galactosidase A deficiency
Ceramide trihexosidosis
GLA deficiency

Diagnosis Coding

ICD-10

E75.21, fabry (-Anderson) disease

ICD-10 for Fabry Disease provides further information.

Description

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency or absence of the lysosomal enzyme α-galactosidase A. This results in an accumulation of globotriaosylceramide (GL-3) and related glycosphingolipids within an array of cell types. Progressive impairment of normal cell functioning in multiple systems can lead to kidney failure, cardiac involvement with conduction abnormalities, cardiomyopathy, coronary artery disease, valvular disease, cerebrovascular disease (strokes), and other severe organ damage. [Germain: 2010] [Kaminsky: 2013] [National: 2012]

Early signs and symptoms of Fabry disease appear between 3–10 years of age and may include severe episodes of burning pain in the hands and feet, decreased sweating, and gastrointestinal symptoms such as abdominal pain, diarrhea, nausea, and vomiting. [Sestito: 2013] Despite the X-linked inheritance pattern, females who have the Fabry gene may be as affected as males and usually have more variability of symptom onset.

The only FDA-approved treatment for Fabry disease is enzyme replacement therapy (ERT), which became available in the U.S. in 2003 and has been shown to be both safe and effective. [Sestito: 2013] Although not a cure, studies have shown ERT to have a positive impact on renal and cardiac function as well as gastrointestinal symptoms and pain.

Prevalence

Fabry disease is the second most common lysosomal storage disorder (after Gaucher disease) and is found in all races and ethnicities. The etimated prevalence of Fabry is 1/50,000. [National: 2012] Studies suggest that Fabry may be underdiagnosed, and the prevalence may be much higher. [Hopkins: 2015] [Lin: 2009] [Mechtler: 2012]

Genetics

Fabry disease is inherited in an X-linked pattern and is caused by mutations in the GLA gene located in Xq22.1. [Pinto: 2010] More than 670 different mutations that cause Fabry disease have been identified. [Smid: 2014] Mutations that result in <1% of normal α- galactosidase A activity usually result in the classic phenotype with an earlier onset and severe symptoms. [Sigmundsdottir: 2014] Mutations with >1% α-galactosidase A activity may have the non-classic phenotype that results in a spectrum of symptoms from classic phenotype to organ specific symptoms, such as adult onset predominant involvement of the heart or kidneys.

Due to the X-linked inheritance, women who have a Fabry-associated gene mutation have a 50% chance of passing the gene to their child in each pregnancy. Men with the Fabry disease will pass the mutation on to all of their daughters, but not their sons. In 1%–2% of patients, a Fabry-associated gene mutation is de novo (i.e., was not inherited from a parent). [Sestito: 2013] An individual with a de novo mutation will still pass the condition on in a X-linked inheritance pattern.

Prognosis

Renal, cardiovascular, or cerebrovascular complications can limit the lifespan of those with Fabry. [Germain: 2010] If untreated, males have a life expectancy of approximately 50 years; females have a life expectancy of 70 years. This represents a reduction of at least 20 and 10 years, respectively. A child’s quality of life and participation in home and school activities may be impacted by symptoms such as pain and gastrointestinal disturbances. [Martins: 2009]

Roles Of The Medical Home

In addition to well-child and acute-care visits, primary care clinicians fulfill a crucial role for the child and family including:
  • Providing education and support
  • Identifying sources of information and other needed resources
  • Monitoring for disease symptoms that require referral
  • Coordinating care with subspecialists
  • Advocating for needed accommodations at school

Practice Guidelines

Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR.
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
Genet Med. 2006;8(9):539-48. PubMed abstract

Martins AM, D'Almeida V, Kyosen SO, Takata ET, Delgado AG, Gonçalves AM, Benetti Filho CC, Martini Filho D, Biagini G, Pimentel H, Abensur H, Guimarães HC, Gomes JG, Sobral Neto J, D'Almeida LO, Carvalho LR, Harouche MB, Maldonado MC, Nascimento OJ, Montoril PS, Bastos RV.
Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences.
J Pediatr. 2009;155(4 Suppl):S19-31. PubMed abstract

Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, O'Rourke E, Sims K, Walter G.
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
J Genet Couns. 2013;22(5):555-64. PubMed abstract / Full Text

Helpful Articles

PubMed search for Fabry disease in children, last 3 years.

Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ.
Fabry disease in infancy and early childhood: a systematic literature review.
Genet Med. 2015;17(5):323-30. PubMed abstract

Thomas AS, Hughes DA.
Fabry disease.
Pediatr Endocrinol Rev. 2014;12 Suppl 1:88-101. PubMed abstract

Toyooka K.
Fabry disease.
Handb Clin Neurol. 2013;115:629-42. PubMed abstract

Sestito S, Ceravolo F, Concolino D.
Anderson-Fabry disease in children.
Curr Pharm Des. 2013;19(33):6037-45. PubMed abstract

Clinical Assessment

Overview

The progressive nature of Fabry does not manifest in a fixed order of disease progression or organ involvement and therefore all relevant organ systems need to be assessed, treated, and monitored individually. [Eng: 2006] An abbreviated schedule of assessments and testing for pediatric Fabry patients can be found in the Fabry Registry Annual Report 2013 (PDF Document 724 KB) Appendix 4 (pg.12 of doc./pg. 14 with pdf finder). No biomarkers differentiate individuals with Fabry who are mildly affected from those who have a more severe course.

Screening

For The Condition

Missouri and Illinois are the first states to conduct newborn screening for Fabry disease. [University: 2014] Some of the patients identified by newborn screening have very mild mutations that might not result in symptoms. See Fabry: Response to Positive Newborn Screen (Mayo Clinic) (PDF Document 476 KB).

Screen children with a family history of Fabry and children with a finding of corneal whorling during a slit lamp eye exam. [Laney: 2013] If a child does not present with the previous two findings, test a child who has two of the following symptoms:
  1. Angiokeratomas
  2. Decreased sweating
  3. Personal or family history of:
    • Burning pain in the hands and feet
    • Renal failure
    • Intolerance to heat, cold, or exercise
    • Cardiac hypertrophy
Consultation with a genetic metabolic specialist and a genetic counselor is recommended. The Fabry Disease: Testing Algorithm (Mayo Clinic) (PDF Document 496 KB) describes appropriate screening and testing for Fabry disease based on indications and gender of the child.

Of Family Members

A genetic counselor will make screening recommendations based on inheritance risk. Parents of children diagnosed with Fabry should understand the options for future pregnancies and the risks of Fabry being inherited.

For Complications

Reports of depression are found in 46-58% of individuals with Fabry with 39% reporting anxiety. [Laney: 2013] Panic attacks and ADHD can manifest at any age. [Sestito: 2013] Screening is recommended.

Presentations

Possible pediatric comorbidities by organ system include: [Mehta: 2010] [Sestito: 2013] [Löhle: 2015]
  • Renal: Proteinuria, albuminuria, reduced GFR, hyperfiltration, renal failure
  • Cardiac: Arrhythmia, decreased heart rate variability, left ventricular hypertrophy, aortic root dilation, valvular disease, myocardial infarction
  • Cerebrovascular: Transient ischemic attack (TIA), stroke, subclinical white matter lesions
  • Gastrointestinal: Abdominal pain, diarrhea, constipation, nausea, vomiting, anorexia, flatulence, bloating
  • Neurological: Neuropathic pain, acroparesthesia, tinnitus, sensorineural hearing loss, dizziness, vertigo
  • Psychosocial: Depression, anxiety, panic attacks, and ADHD
  • Integumentary: Angiokeratomas, anhydrosis or hypohydrosis, teleangiectasia, lymphoedema
  • Ocular: Cornea verticillata (corneal whorling), tortuous retinal vessels, subcapsular cataracts
  • Other: Joint and muscle pain, osteopenia or osteoporosis, retarded growth, delayed puberty, priapism, unexplained fever, obstructive airway disease

Diagnostic Criteria

Fabry disease is diagnosed under the following criteria:
  • Reduced plasma α-galactosidase enzyme activity
  • Elevated plasma or urinary GL-3
  • Confirmation of Fabry disease mutation by genetic analysis of GLA gene
Females with Fabry disease may have normal α-galactosidase enzyme activity and GL-3 levels, so a GLA genetic analysis should be used to confirm diagnosis. [Mehta: 2010]

Differential Diagnosis

Differential diagnoses include:
  • Fibromyalgia
  • Multiple sclerosis
  • Arthritis

Pearls & Alerts

Genetic analysis may be needed to confirm diagnosis in females

Females with Fabry disease may have normal α-galactosidase enzyme activity and GL-3 levels, so a GLA genetic analysis should be used to confirm diagnosis.

Despite the X-linked inheritance pattern, females who have the Fabry gene are often symptomatic

Approximately 70% of women are not simply "carriers" of Fabry, but are also symptomatic. Females should be assessed regularly for disease progression.

History & Examination

Family History

Ask about family history of: [Sestito: 2013]
  • Unexplained, early deaths due to renal failure
  • Cardiac disease
  • Stroke
  • Hypohydrosis
  • Burning pain in the hands and feet
  • Gastrointestinal disturbances
The absence of family history of the disease or family members with symptoms does not rule out a diagnosis since Fabry may be passed on through several generations by unidentified affected females with non-classic symptoms.

Current & Past Medical History

Initial assessment may elicit a personal history of pain in the hands, feet, and extremities that may have been diagnosed as “growing pains.” A child may also have a history of gastrointestinal complaints including abdominal pain, diarrhea, constipation, nausea, vomiting, and bloating after eating. [Sestito: 2013] Hypohydrosis, as well as heat, cold, and exercise intolerance may also be reported. Medical history is re-evaluated with therapy change or event.

Physical Exam

Skin

Examine children for the presence of angiokeratomas, which is usually found in the “bathing suit” area. (For images, see Angiokeratomas.)

HEENT

Cornea verticillata, or corneal whorling, can be found on slit lamp eye exam in 70% of girls and most boys affected by Fabry. [Sestito: 2013] This whorling occurs in both eyes and does not affect vision.

Cornea Verticillata
Cornea Verticillata
From [Burlina: 2011] , available on Wikimedia Commons

Heart

Assess for sinus bradycardia and systolic murmurs as these may be early signs of cardiac involvement. [Sestito: 2013] Cardiac abnormalities such as left ventricular hypertrophy, arrhythmias, valvular insufficiency, and decrease in heart rate variability can occur in children with Fabry.

Testing

Sensory Testing

  • On initial exam (diagnosis) & every 24–36 months: audiologic evaluation, slit-lamp exam
  • With therapy change or event: audiologic evaluation

Laboratory Testing

  • On initial exam (diagnosis): glomerular filtration rate, albuminuria & proteinuria
  • Every 6–12 months: albuminuria & proteinuria
  • Every 24–36 months: glomerular filtration test
  • With therapy change or event: glomerular filtration test, albuminuria & proteinuria

Imaging

  • On initial exam (diagnosis), every 24–36 months, & with therapy change or event: electrocardiogram, echocardiogram, cranial MRI: T1, T2, & FLAIR

Genetic Testing

  • On initial exam (diagnosis): genotype

Other Testing

  • On initial exam (diagnosis): enzyme activity, enzyme replacement therapy status
  • Every 6–12 months: enzyme replacement therapy status
  • With therapy change or event: pediatric pain assessment, enzyme replacement therapy status

Subspecialist Collaborations & Other Resources

Pediatric Metabolic Genetics (see Services below for relevant providers)

All children diagnosed with Fabry should be followed by a genetic/metabolic specialist who is familiar with monitoring and treating the disease and who can help provide education and support to the family.

Pediatric Cardiology (see Services below for relevant providers)

Refer for initial symptoms of early cardiac involvement including new onset murmurs or bradycardia.

Pediatric Gastroenterology (see Services below for relevant providers)

Referral may be helpful for treatment and management of gastrointestinal symptoms such as constipation, diarrhea, abdominal pain, nausea, and vomiting that is not responding to usual treatments.

Psychologist, Child-18 (see Services below for relevant providers)

Children and adolescents who present with symptoms of depression or anxiety may benefit from referral.

Pediatric Nephrology (see Services below for relevant providers)

Refer those with proteinuria or microalbuminuria for more extensive testing to determine renal involvement.

Pediatric Neurology (see Services below for relevant providers)

Difficulties managing the child's pain should prompt referral to a pediatric neurologist.

Treatment & Management

Overview

Management of Fabry disease focuses on slowing or halting disease progression and managing symptoms. Enzyme replacement therapy (ERT) with agalsidase beta (Fabrazyme) is the only FDA-approved treatment for Fabry disease in the United States. ERT, given by infusion every two weeks for the life of the patient, has been shown to slow the progression of renal and cardiac damage as well as help alleviate pain and other symptoms. [Sestito: 2013] [Germain: 2015] Outside of the United States, agalsidase alpha (Replagel) is an available ERT treatment. ERT treatment should be managed by a specialist in metabolic disorders. See Overview of Treatment for Fabry (PDF Document 192 KB).

Pearls & Alerts

Stress can trigger pain

Heat, stress, exercise, or fatigue may trigger pain in children with Fabry disease.

Systems

Neurology

Neural damage from GL-3 accumulation causes dysfunction of the small nerve fibers in the peripheral somatic and autonomic nervous system. [Eng: 2006] [Sestito: 2013] The earliest symptoms in children usually include chronic acroparesthesias (burning or tingling pain in the extremities). Children with Fabry may also experience acute pain episodes termed “Fabry crises,” which begin in the feet and hands and radiate proximally. Episodes may last minutes to weeks and can occur daily. Pain is often accompanied by fever and an elevated ESR. In boys, these episodes may begin as early as age 4, with a mean age of onset at 10 years. The episodes tend to present later, if at all, in girls. The extent of pain can be debilitating and contribute to depression and suicidality in adolescent patients. It can also impact school attendance and performance. [Laney: 2013] Children and adolescents may have difficulties participating in sports due to heat and exercise intolerance. [Sestito: 2013] The pain provoked by heat, stress, fatigue, or exercise may be due to an impaired ability to sweat and regulate body temperature.

Management of neuropathic pain consists of avoidance of triggers, rest, and the use of anticonvulsant medications such as gabapentin, carbamazepine, oxcarbazepine, topiramate, or phenytoin. Analgesics may also be necessary.

Subspecialist Collaborations & Other Resources

Pediatric Neurology (see Services below for relevant providers)

Refer if child's neuropathic pain is difficult to manage.

Ears/Hearing

Tinnitus and hearing loss have been reported in adolescents and may necessitate the use of hearing aids.

Subspecialist Collaborations & Other Resources

Audiology (see Services below for relevant providers)

Refer for help managing tinnitus or other changes in hearing.

Renal

The accumulation of GL-3 in kidney cells leads to irreversible damage to the function of the glomerular barrier. [Sestito: 2013] Some damage to the renal system occurs before overt signs or symptoms, such as proteinuria or a decrease in GFR, appear. Vigilant screening for progression of symptoms is necessary in order to begin treatment with ERT in a timely manner. ERT is not as effective in slowing progression of the disease if it is started after a patient is exhibiting >1 g/day of proteinuria and/or GFR<60 ml/min. [Najafian: 2013] Renal biopsy may be important in determining stage of disease progression and effectiveness of treatment.

Subspecialist Collaborations & Other Resources

Pediatric Metabolic Genetics (see Services below for relevant providers)

Collaborate with the metabolic geneticist for appropriate monitoring of renal function and for when to refer to a nephrologist.

Pediatric Nephrology (see Services below for relevant providers)

Refer for treatment and management if there is any kidney involvement.

Cardiology

Adolescents and children with Fabry may manifest sinus bradycardia, systolic murmurs, chest pain, dyspnea, arrhythmias, decreased heart rate variability, left ventricular hypertrophy, palpitations, and syncope as early signs of cardiac involvement. [Sestito: 2013] Some of these symptoms may be due to neurological impairment of the parasympathetic and sympathetic innervation to the heart due to GL-3 accumulation. Management of children with Fabry includes periodic testing of the function of the heart and monitoring for bradycardia (Holter monitor).

Subspecialist Collaborations & Other Resources

Pediatric Cardiology (see Services below for relevant providers)

Refer children with any early signs of cardiac involvement.

Pediatric Metabolic Genetics (see Services below for relevant providers)

A joint effort between the primary care clinician and the metabolic genetic specialist is paramount in tracking progression of the disease in order to treat specific organ symptoms including the heart.

Gastro-Intestinal & Bowel Function

Gastrointestinal symptoms including diarrhea, nausea, vomiting, and postprandial abdominal pain and bloating may contribute to anorexia and difficulty gaining weight. [Sestito: 2013] The complete cause of GI symptoms is not known; it has been theorized that a combination of enteric neuropathy and accumulation of GL-3 in the smooth muscle of the intestine is responsible. Gastrointestinal symptoms may respond to treatment with H2 blockers and/or metoclopramide.

Subspecialist Collaborations & Other Resources

Pediatric Gastroenterology (see Services below for relevant providers)

Consider referring any pediatric Fabry patient whose gastrointestinal symptoms are difficult to manage with conventional therapies.

Skin & Appearance

Most male patients will have angiokeratomas by childhood or adolescence, and they are often found in the umbilicus or under the scrotum. [Sestito: 2013] Ten to 35% of females will develop angiokeratomas, usually in adolescence. Angiokeratomas are purplish-red, small lesions that are slightly raised and do not blanch. [Sestito: 2013] They are usually found in the “bathing suit” area, between the trunk and the knees, but may appear anywhere else including the breasts and inside the mouth. The lesions typically increase in number and size as a child ages. The lesions are benign and generally do not require treatment.

Subspecialist Collaborations & Other Resources

Pediatric Dermatology (see Services below for relevant providers)

Refer children who may find the lesions cosmetically unappealing to a dermatologist.

Mental Health/Behavior

A significant negative impact on quality of life is reported by children and adolescents with Fabry disease. [Sestito: 2013] [Arends: 2015] Some adolescents self-medicate to alleviate pain, and this could lead to drug abuse. In addition, children and adolescents with Fabry may experience depression and anxiety. [Eng: 2006] [Löhle: 2015] Treatments may involve suitable medications and referral to appropriate professionals such as psychiatrists, counselors, pain centers, or social workers.

Subspecialist Collaborations & Other Resources

Psychologist, Child-18 (see Services below for relevant providers)

Children and adolescents who present with symptoms of anxiety and/or depression may benefit from referral.

Pain Clinics (see Services below for relevant providers)

Referral may be helpful for managing pain.

Frequently Asked Questions

I am treating a child with Fabry that complains of frequent pain. On exam, I cannot find anything that would explain these symptoms. Are they really having this much pain?

Yes. The pain in Fabry disease is real and needs to be treated. Chronic, frequent pain may need treated with anti-seizure medications such as Neurontin or Carbamazepine. Episodic intense periods of pain, often called “Fabry Crisis,” may need to be treated with stronger pain-relieving medications.

When should enzyme replacement therapy (ERT) begin?

There is no consensus on when to start treatment with ERT; the decisions should be discussed with a metabolic specialist. Several studies have suggested that treatment should begin before critical organ changes have occurred. [Sestito: 2013] Assessment and vigilant monitoring for early symptoms and collaboration with a metabolic geneticist is vital. Studies show ERT is less effective if started after a patient is exhibiting >1 g/day of proteinuria and/or GFR<60 ml/min.

Issues Related to Fabry Disease

Resources

Information for Clinicians

Fabry Community for Healthcare Professionals (Genzyme)
Diagnosis and management information, patient education, publications, and other resources for clinicians.

Fabry Disease (GeneReviews)
Peer-reviewed diagnosis and management information; from the National Center for Biotechnology Information, U.S. National Library of Medicine.

Fabry Disease (NORD)
Overview of Fabry disease. Registration gives access to detailed reports (some free); National Organization for Rare Disorders.

Helpful Articles

PubMed search for Fabry disease in children, last 3 years.

Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ.
Fabry disease in infancy and early childhood: a systematic literature review.
Genet Med. 2015;17(5):323-30. PubMed abstract

Sestito S, Ceravolo F, Concolino D.
Anderson-Fabry disease in children.
Curr Pharm Des. 2013;19(33):6037-45. PubMed abstract

Thomas AS, Hughes DA.
Fabry disease.
Pediatr Endocrinol Rev. 2014;12 Suppl 1:88-101. PubMed abstract

Toyooka K.
Fabry disease.
Handb Clin Neurol. 2013;115:629-42. PubMed abstract

Clinical Tools

Algorithms/Care Processes

Fabry Disease: Testing Algorithm (Mayo Clinic) (PDF Document 496 KB)
Describes appropriate screening and testing based on indications and gender.

Fabry: Response to Positive Newborn Screen (Mayo Clinic) (PDF Document 476 KB)
One-page algorithm for clinicians; Mayo Medical Laboratories.

ACT Sheet for Fabry Disease (ACMG) (PDF Document 272 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.

Patient Education & Instructions

Fabry Disease: Guide for the Newly Diagnosed (Emory University) (PDF Document 141 KB)
Factsheet with information about the Fabry symptoms, treatment, tests, and resources.

Understanding Fabry Disease (Genzyme, Spanish)
Page with pamphlet with information about Fabry in Spanish.

A Guide for Women Living with Fabry Disease (Genzyme)
Page with a document with information for women who have Fabry disease.

Fabry Information for Patients and Families (Genzyme)
Information about Fabry that includes how it is passed on and a family tree.

Information & Support for Families

Family Diagnosis Page

Information on the Web

Fabry Disease (NINDS)
Information about Fabry disease, treatment, prognosis, research, and links to other organizations; National Institute of Neurological Disorders and Stroke.

GLA Gene (Genetics Home Reference)
Information about the galactosidase, alpha (GLA) gene; sponsored by the National Institutes of Health.

How Do I Talk To My Family About Fabry? (Genetic Alliance and Genzyme) (PDF Document 5.2 MB)
Thirty-four pages of information about Fabry disease that includes how it is passed on, a family tree, how to talk to other family members, family stories, and resources.

How Do I Talk To My Family About Fabry? (Genetic Alliance and Genzyme, Spanish) (PDF Document 6.3 MB)
Thirty-four pages of information about Fabry disease in Spanish that includes how it is passed on, a family tree, how to talk to other family members, family stories, and resources.

Understanding Fabry Disease (Genzyme)
Page with booklet (20 pages) that focuses on living with Fabry disease.

Support National & Local

Fabry Support & Information Group (FSIG)
Access to support groups, discussion forums, resources, and research related to Fabry disease.

National Fabry Disease Foundation
Information about Fabry disease, counseling, physician locator, and links to stories, videos, the Charles Kleinschmidt Fabry Family Weekend Camp, and books for children (Joe Learns about Fabry Disease, Dani Goes to Fabry Family Camp, The Long Road to Fabry, Faber the Dragon, and Transitions: Managing Your Own Healthcare: What Every Teen with an LSD Needs to Know).

Fabry Community (Genzyme)
Information, patient education, the Fabry Registry, and other resources; Genzyme is a biotechnology company.

Focus on Fabry
Resource for patients, families, and healthcare professionals with an interest in Fabry disease - includes personal stories.

Studies/Registries

Fabry Registry (Genzyme)
Any person with a confirmed diagnosis of Fabry disease is eligible to participate regardless of disease type, treatment status, or treatment choice.

Clinical Trials in Fabry (clinicaltrials.gov)
List of current clinical trials in Fabry disease; a service of the U.S. National Institutes of Health.

Services for Patients & Families

Audiology

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Camps

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Disability/Diagnosis-Specific Advocacy

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Health Insurance, Other

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National Support Groups, Disab/Diag

See all National Support Groups, Disab/Diag services providers (45) in our database.

Pain Clinics

See all Pain Clinics services providers (3) in our database.

Pediatric Cardiology

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Pediatric Dermatology

See all Pediatric Dermatology services providers (1) in our database.

Pediatric Gastroenterology

See all Pediatric Gastroenterology services providers (3) in our database.

Pediatric Metabolic Genetics

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Pediatric Nephrology

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Pediatric Neurology

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Physician Referral Services

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Psychologist, Child-18

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For other services related to this condition, browse our Services categories or search our database.

Authors

Author: Susan Jensen, DNP - 6/2015
Contributing Author: Dawn Laney - 4/2015
Reviewing Authors: Meghan Candee, MD - 6/2015
Nicola Longo, MD, PhD - 4/2015
Content Last Updated: 6/2015

Bibliography

Arends M, Hollak CE, Biegstraaten M.
Quality of life in patients with Fabry disease: a systematic review of the literature.
Orphanet J Rare Dis. 2015;10(1):77. PubMed abstract / Full Text

Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C, Møller AT, Hilz MJ.
Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel.
BMC Neurol. 2011;11:61. PubMed abstract / Full Text

Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR.
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
Genet Med. 2006;8(9):539-48. PubMed abstract
An international panel of physicians with expertise in Fabry disease has proposed guidelines for the recognition, evaluation, and surveillance of disease-associated morbidities, as well as therapeutic strategies.

Germain DP.
Fabry disease.
Orphanet J Rare Dis. 2010;5:30. PubMed abstract / Full Text

Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR.
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
J Med Genet. 2015;52(5):353-8. PubMed abstract / Full Text

Hopkins PV, Campbell C, Klug T, Rogers S, Raburn-Miller J, Kiesling J.
Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri.
J Pediatr. 2015;166(1):172-7. PubMed abstract

Kaminsky P, Noel E, Jaussaud R, Leguy-Seguin V, Hachulla E, Zenone T, Lavigne C, Marie I, Maillot F, Masseau A, Serratrice C, Lidove O.
Multidimensional analysis of clinical symptoms in patients with Fabry's disease.
Int J Clin Pract. 2013;67(2):120-7. PubMed abstract

Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, O'Rourke E, Sims K, Walter G.
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
J Genet Couns. 2013;22(5):555-64. PubMed abstract / Full Text

Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ.
Fabry disease in infancy and early childhood: a systematic literature review.
Genet Med. 2015;17(5):323-30. PubMed abstract

Lin HY, Chong KW, Hsu JH, Yu HC, Shih CC, Huang CH, Lin SJ, Chen CH, Chiang CC, Ho HJ, Lee PC, Kao CH, Cheng KH, Hsueh C, Niu DM.
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
Circ Cardiovasc Genet. 2009;2(5):450-6. PubMed abstract

Löhle M, Hughes D, Milligan A, Richfield L, Reichmann H, Mehta A, Schapira AH.
Clinical prodromes of neurodegeneration in Anderson-Fabry disease.
Neurology. 2015;84(14):1454-64. PubMed abstract / Full Text

Martins AM, D'Almeida V, Kyosen SO, Takata ET, Delgado AG, Gonçalves AM, Benetti Filho CC, Martini Filho D, Biagini G, Pimentel H, Abensur H, Guimarães HC, Gomes JG, Sobral Neto J, D'Almeida LO, Carvalho LR, Harouche MB, Maldonado MC, Nascimento OJ, Montoril PS, Bastos RV.
Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences.
J Pediatr. 2009;155(4 Suppl):S19-31. PubMed abstract

Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC.
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
Lancet. 2012;379(9813):335-41. PubMed abstract

Mehta A, Beck M, Eyskens F, Feliciani C, Kantola I, Ramaswami U, Rolfs A, Rivera A, Waldek S, Germain DP.
Fabry disease: a review of current management strategies.
QJM. 2010;103(9):641-59. PubMed abstract / Full Text

Najafian B, Mauer M, Hopkin RJ, Svarstad E.
Renal complications of Fabry disease in children.
Pediatr Nephrol. 2013;28(5):679-87. PubMed abstract / Full Text

National Library of Medicine.
Fabry Disease.
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