The 20 Best Fabry Disease Doctors in The United States

Find the Top Fabry Disease Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 919 doctor with experience in Fabry Disease near The United States. Of these, 732 are Experienced, 158 are Advanced, 20 are Distinguished and 8 are Elite.

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919 providers found
    Elite in Fabry Disease
    Elite in Fabry Disease

    Texas Neurology, P.A.

    6080 N Central Expy, Ste 100, 
    Dallas, TX 
    Languages Spoken:
    English, French
    Offers Telehealth

    Dr. Schiffmann is a renowned expert on neurometabolic diseases. He earned his medical degree from the University of Liège, Belgium and a Master of Health Sciences in Clinical Research from Duke University. He is board-certified in Neurology with a Special Qualification in Child Neurology and is a Fellow of the American Academy of Neurology. Dr. Schiffmann was a lead researcher at the United States National Institutes of Health in Bethesda, Maryland for over 17 years (1991-2007) and then the Director of the Institute of Metabolic Disease at the Baylor Scott & White Research Institute in Dallas, Texas, 2008-2019. Dr. Schiffmann is a Professor in the Department of Internal Medicine, Texas Christian University and a Clinical Professor, Texas A&M University Medical School College of Medicine. He is also a Senior Vice President for Clinical Research at 4D Molecular Therapeutics. Dr. Schiffmann has been performing pre-clinical and clinical research on lysosomal storage diseases since 1991 with a special focus on the natural history, pathogenesis and therapy of Fabry disease, Gaucher disease and the leukodystrophies. One of his particular interests and areas of expertise is to address patients with undiagnosed neurological diseases. Dr. Schiffmann has published 276 peer-reviewed research articles and over 15 book chapters. Dr. Schiffmann is rated as an Elite provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Gaucher Disease Type 3, Fabry Disease, Gaucher Disease, and Leukodystrophy. Dr. Schiffmann is board certified in Neurology With Special Qualification In Child Neurology- American Board Of Psychiatry And Neurology/Neurology With Special Qualification In Child Neurology and Neurology With Special Qualification In Child Neurology- American Board Of Psychiatry And Neurology.

    Elite in Fabry Disease
    Medical Genetics
    Elite in Fabry Disease
    Medical Genetics

    Emory Clinic At 1365 Clifton Road

    1365 Clifton Road Northeast, BldgB, 
    Atlanta, GA 
    Experience:
    38+ years
    Languages Spoken:
    English

    William Wilcox is a Medical Genetics provider practicing medicine in Atlanta, Georgia. He has been practicing medicine for over 38 years. Dr. Wilcox is rated as an Elite provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Fabry Disease, Achondroplasia, Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). Dr. Wilcox is board certified in American Board Of Medical Genetics And Genomics, 1996.

    Elite in Fabry Disease
    Nephrology
    Elite in Fabry Disease
    Nephrology

    Office

    2000 6th Ave S Fl 4, 
    Birmingham, AL 
    Languages Spoken:
    English
    Offers Telehealth

    Eric Wallace is a Nephrologist practicing medicine in Birmingham, Alabama. Dr. Wallace is rated as an Elite provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Fabry Disease, Chronic Kidney Disease, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Multiple Sulfatase Deficiency, and Thrombectomy. Dr. Wallace is board certified in Nephrology.

    Learn about our expert tiers
    Elite in Fabry Disease
    Medical Genetics | Pediatrics
    Elite in Fabry Disease
    Medical Genetics | Pediatrics

    Children's Hospital Medical Center

    3333 Burnet Ave, 
    Cincinnati, OH 
    Languages Spoken:
    English

    Robert Hopkin is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Cincinnati, Ohio. Dr. Hopkin is rated as an Elite provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 207 other conditions, according to our data. His clinical expertise encompasses Fabry Disease, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Microcephaly, and Orchiectomy.

    Elite in Fabry Disease
    Pediatrics
    Elite in Fabry Disease
    Pediatrics

    Ozlem Goker-Alpan MD LLC

    3702 Pender Dr Ste 170, 
    Fairfax, VA 
    Languages Spoken:
    English

    Ozlem Goker is a primary care provider, practicing in Pediatrics in Fairfax, Virginia. Dr. Goker is rated as an Elite provider by MediFind in the treatment of Fabry Disease. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Gaucher Disease, Fabry Disease, Gaucher Disease Type 1, and Gaucher Disease Type 3.

    Elite in Fabry Disease
    Internal Medicine
    Elite in Fabry Disease
    Internal Medicine

    University Of Alabama Hospital

    619 19th St S, 
    Birmingham, AL 
    Languages Spoken:
    English

    David Warnock is an Internal Medicine provider practicing medicine in Birmingham, Alabama. Dr. Warnock is rated as an Elite provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Fabry Disease, Chronic Kidney Disease, End-Stage Renal Disease (ESRD), Renal Hypomagnesemia Type 2, and Kidney Transplant.

    Elite in Fabry Disease
    Medical Genetics | Pediatrics
    Elite in Fabry Disease
    Medical Genetics | Pediatrics
    1 Gustave L Levy Pl, Box 1498, 
    New York, NY 
    Languages Spoken:
    English

    Robert Desnick is a Medical Genetics specialist and a Pediatrics provider practicing medicine in New York, New York. Dr. Desnick is rated as an Elite provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Hereditary Coproporphyria, Fabry Disease, Aplasia Cutis Congenita, and Ectodermal Dysplasias.

    Elite in Fabry Disease
    Pediatric Gastroenterology
    Elite in Fabry Disease
    Pediatric Gastroenterology

    Office

    550 Warwick Ave, 
    Teaneck, NJ 
    Languages Spoken:
    English

    Jay Barth is a Pediatric Gastroenterologist practicing medicine in Teaneck, New Jersey. Dr. Barth is rated as an Elite provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Fabry Disease, Pompe Disease, Diarrhea, and Hereditary Ataxia.

    Advanced in Fabry Disease
    Advanced in Fabry Disease

    ETSU Physicians & Associates- Pediatrics

    325 N State Of Franklin Rd, 
    Johnson City, TN 
    Languages Spoken:
    English

    . Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

    Experienced in Fabry Disease
    Experienced in Fabry Disease

    Advocate Heart Institute

    1875 Dempster St, Ste 525/555, 
    Park Ridge, IL 
    Languages Spoken:
    English

    Katarzyna Mikrut is a Cardiologist practicing medicine in Park Ridge, Illinois. Dr. Mikrut is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. Her clinical expertise encompasses Mitral Valve Regurgitation, Fainting, Aortic Regurgitation, and Hypertensive Heart Disease. Dr. Mikrut is board certified in American Board Of Internal Medicine, Cardiovascular Disease.

    Experienced in Fabry Disease
    Medical Genetics
    Experienced in Fabry Disease
    Medical Genetics

    Advocate Children's Medical Group Genetics

    1875 Dempster St, Ste 285, 
    Park Ridge, IL 
    Languages Spoken:
    English

    Brad Angle is a Medical Genetics provider practicing medicine in Park Ridge, Illinois. Dr. Angle is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses KBG Syndrome, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, Cortical Dysplasia, and Micrognathia. Dr. Angle is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics And Genomics.

    Distinguished in Fabry Disease
    Distinguished in Fabry Disease

    Duke Children's Health Center Genetics Clinic

    2301 Erwin Rd, 
    Durham, NC 
    Experience:
    32+ years
    Languages Spoken:
    English
    Offers Telehealth

    Marie Mcdonald is a Pediatrics provider practicing medicine in Durham, North Carolina. She has been practicing medicine for over 32 years. Dr. Mcdonald is rated as a Distinguished provider by MediFind in the treatment of Fabry Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Fabry Disease and X-Linked Retinitis Pigmentosa (XLRP). Dr. Mcdonald is board certified in American Board Of Medical Genetics And Genomics, Clinical Biochemical Genetics and American Board Of Medical Genetics And Genomics, Clinical Genetics And Genomics - General.

    Distinguished in Fabry Disease
    Cardiology
    Distinguished in Fabry Disease
    Cardiology

    Cleveland Clinic Main Campus

    9500 Euclid Avenue, 
    Cleveland, OH 
    Experience:
    38+ years
    Languages Spoken:
    English, Arabic, French
    Offers Telehealth

    Wael Jaber is a Cardiologist practicing medicine in Cleveland, Ohio. He has been practicing medicine for over 38 years. Dr. Jaber is rated as a Distinguished provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 70 other conditions, according to our data. His clinical expertise encompasses Cardiac Amyloidosis, Aortic Valve Stenosis, Aortic Regurgitation, Aortic Valve Replacement, and Transcatheter Aortic Valve Replacement (TAVR). Dr. Jaber is board certified in American Board Of Internal Medicine, 1998.

    Experienced in Fabry Disease
    Cardiology | Internal Medicine
    Experienced in Fabry Disease
    Cardiology | Internal Medicine

    Hospital Of The University Of Pennsylvania

    Radiology Cardiovascular Imaging Section, 3400 Spruce Street, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Lefebvre is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Patent Foramen Ovale, Sengers Syndrome, Heart Failure, Familial Hypertrophic Cardiomyopathy, and Patent Foramen Ovale Repair. Dr. Lefebvre is board certified in American Board Of Internal Medicine.

    Experienced in Fabry Disease
    Experienced in Fabry Disease

    Regional Kidney Care

    2002 Brookside Dr, Ste 102, 
    Kingsport, TN 
    Languages Spoken:
    English
    Offers Telehealth

    . Dr. Poobalasingham is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 22 other conditions, according to our data. His clinical expertise encompasses Acute Kidney Failure, Chronic Kidney Disease, Nephrosclerosis, Renovascular Hypertension, and Gastrostomy. Dr. Poobalasingham is board certified in American Board Of Internal Medicine.

    Experienced in Fabry Disease
    Cardiology | Internal Medicine
    Experienced in Fabry Disease
    Cardiology | Internal Medicine

    Hospital Of The University Of Pennsylvania

    Radiology Cardiovascular Imaging Section, 3400 Spruce Street, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Hu is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Congenital Heart Disease (CHD), Sengers Syndrome, Cardiac Tamponade, and Familial Hypertrophic Cardiomyopathy. Dr. Hu is board certified in American Board Of Internal Medicine.

    Experienced in Fabry Disease
    Cardiology | Radiology | Internal Medicine
    Experienced in Fabry Disease
    Cardiology | Radiology | Internal Medicine

    Hospital Of The University Of Pennsylvania

    Radiology Cardiovascular Imaging Section, 3400 Spruce Street, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Vidula is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Sarcoidosis, Cardiomyopathy, Myocarditis, Heart Failure, and Percutaneous Coronary Intervention (PCI). Dr. Vidula is board certified in American Board Of Internal Medicine.

    Distinguished in Fabry Disease
    Neurology
    Distinguished in Fabry Disease
    Neurology

    Bellevue Hospital Center

    462 1st Ave Bldg 14-S, 
    New York, NY 
    Languages Spoken:
    English

    Max Hilz is a Neurologist practicing medicine in New York, New York. Dr. Hilz is rated as a Distinguished provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Fabry Disease, Traumatic Brain Injury, Familial Dysautonomia, and Concussion.

    Distinguished in Fabry Disease
    Distinguished in Fabry Disease

    Icahn School Of Medicine At Mount Sinai Cvi Center For Health At Mt Si

    234 E 85th St, 
    New York, NY 
    Languages Spoken:
    English

    Newsha Ghodsi is a Cardiologist practicing medicine in New York, New York. Dr. Ghodsi is rated as a Distinguished provider by MediFind in the treatment of Fabry Disease. She is also highly rated in 38 other conditions, according to our data. Her clinical expertise encompasses Vasculitis, High Cholesterol, Thoracic Aortic Aneurysm, Transcatheter Aortic Valve Replacement (TAVR), and Aortic Valve Replacement.

    Advanced in Fabry Disease
    Medical Genetics
    Advanced in Fabry Disease
    Medical Genetics

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Perszyk is rated as an Advanced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Mucolipidosis 3. Dr. Perszyk is board certified in American Board Of Medical Genetics And Genomics.

    Showing 1-20 of 919

    Last Updated: 04/28/2026

    What is the definition of Fabry Disease?

    Fabry disease is an inherited disorder that results from the buildup of a type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness or streaks in the front part of the eye (corneal opacity or corneal verticillata); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Additional signs and symptoms are possible, which can vary among affected individuals.

    When should I see a Fabry Disease doctor in The United States?

    There are various reasons why you may want to see a specialist, such as: 

    • Your primary care provider recommends it. 
    • Your condition requires expert knowledge and specialized care. 
    • Your symptoms persist or worsen despite treatment. 
    • You need specialized testing or procedures. 
    • You want a second opinion.  

    What should I consider when choosing a Fabry Disease doctor in The United States?

    It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

    How does MediFind rank Fabry Disease doctors in The United States?

    MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

    What types of insurance are accepted by Fabry Disease doctors in The United States?

    Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

    How can I book an appointment online with a Fabry Disease doctor in The United States?

    MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Fabry Disease doctor search results page. 

    Why is it important to get a second opinion from a different Fabry Disease doctor?

    Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

    How can I prepare for my appointment with a Fabry Disease doctor in The United States?

    Prepare for your appointment by gathering the following items: 

    • Copies of medical records (dating back at least one year) 
    • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
    • Family history of disease 
    • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
    • Allergies to medications, food, latex, insects, etc.  
    • List of questions and concerns 
    • Your insurance card 

    You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

    What questions should I ask my Fabry Disease doctor?

    Here are some sample questions: 

    • Can you explain in simple terms what this condition is and how it’s treated? 
    • What symptoms or side effects should I watch for? 
    • What tests will be involved, and when can I expect results? 
    • Are there other specialists I need to see? 
    • What’s the best way to reach you if I have follow-up questions? 

    How can I learn about the latest clinical trials and research advances my Fabry Disease doctor may know about?

    MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

    MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

    Can I filter my search to show male or female Fabry Disease doctors in The United States?

    Look for the filter feature on the left side of the Fabry Disease doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

    Can I filter my search to find a Fabry Disease doctor that offers video calls?

    Look for the filter feature on the left-side of the Fabry Disease doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

    Reviewed on: 11/11/24  

    By: MediFind Medical Staff 

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