The 20 Best Fabry Disease Doctors Near Me in Philadelphia, PA

Find the Top Fabry Disease Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 36 doctor with experience in Fabry Disease near Philadelphia, PA. Of these, 27 are Experienced, 8 are Advanced and 1 are Distinguished.

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36 providers found
    Advanced in Fabry Disease
    Geriatrics | Internal Medicine
    Advanced in Fabry Disease
    Geriatrics | Internal Medicine
    Referral may be required

    LVPG Family And Internal Medicine-East Stroudsburg

    179 Independence Road, Second Floor, 
    East Stroudsburg, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Jonathan Goldner is a primary care provider, practicing in Geriatrics and Internal Medicine in East Stroudsburg, Pennsylvania. Dr. Goldner is rated as an Advanced 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 High Cholesterol, Cirrhosis, Familial Combined Hyperlipidemia, and Xanthoma. Dr. Goldner is board certified in American Board Of Internal Medicine - Critical Care Medicine , American Board Of Internal Medicine - Internal Medicine , and American Board Of Internal Medicine - Geriatric Medicine.

    Advanced in Fabry Disease
    Cardiology
    Advanced in Fabry Disease
    Cardiology
    Referral may be required

    LVPG Cardiology-Easton

    2401 Northampton Street, Suite 200, 
    Easton, PA 
    Experience:
    44+ years
    Languages Spoken:
    English, Hindi
    Accepting New Patients
    Offers Telehealth

    Praveer Jain is a Cardiologist practicing medicine in Easton, Pennsylvania. He has been practicing medicine for over 44 years. Dr. Jain is rated as an Advanced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Cardiomyopathy, Fainting, Familial Neurocardiogenic Syncope, Pacemaker Implantation, and Cardiac Ablation. Dr. Jain is board certified in American Board Of Internal Medicine - Internal Medicine, American Board Of Internal Medicine - Clinical Cardiac Electrophysiology , and American Board Of Internal Medicine - Cardiovascular Disease . Dr. Jain is currently accepting new patients.

    Advanced in Fabry Disease
    Medical Genetics
    Advanced in Fabry Disease
    Medical Genetics
    Referral may be required

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

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Anthony Perszyk is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Perszyk is rated as an Advanced 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 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. Dr. Perszyk is currently accepting new patients.

    Learn about our expert tiers
    Experienced in Fabry Disease
    Experienced in Fabry Disease
    Referral may be required

    Penn Heart And Vascular Center

    3400 Civic Center Boulevard, East Pavilion, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Sharlene Day is a Cardiologist practicing medicine in Philadelphia, Pennsylvania. Dr. Day is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Heart Transplant, and Orchiectomy. Dr. Day is board certified in Cardiovascular Disease, 2012. Dr. Day is currently accepting new patients.

    Experienced in Fabry Disease
    Cardiology | Interventional Cardiology
    Experienced in Fabry Disease
    Cardiology | Interventional Cardiology
    Referral may be required

    LVPG Cardiology-West End

    120 Burrus Blvd, 
    Brodheadsville, PA 
    Languages Spoken:
    English, Tulu
    Accepting New Patients
    Offers Telehealth

    Karthik Sheka is a Cardiologist and an Interventional Cardiologist practicing medicine in Brodheadsville, Pennsylvania. Dr. Sheka is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Necrosis, Heart Attack, Apoplexy, Coronary Artery Bypass Graft (CABG), and Heart Bypass Surgery. Dr. Sheka is board certified in American Board Of Internal Medicine - Cardiovascular Disease. Dr. Sheka is currently accepting new patients.

    Experienced in Fabry Disease
    Experienced in Fabry Disease
    Referral may be required

    Penn Heart And Vascular Center

    3400 Civic Center Boulevard, East Pavilion, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Benedicte Lefebvre is a Cardiologist practicing medicine in Philadelphia, Pennsylvania. 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 and Cardiovascular Disease, 2018. Dr. Lefebvre is currently accepting new patients.

    Experienced in Fabry Disease
    Cardiology
    Experienced in Fabry Disease
    Cardiology
    Referral may be required

    Hospital Of The University Of Pennsylvania

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

    Jui Hu is a Cardiologist practicing medicine in Philadelphia, Pennsylvania. 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. Dr. Hu is currently accepting new patients.

    Experienced in Fabry Disease
    Cardiology | Radiology
    Experienced in Fabry Disease
    Cardiology | Radiology
    Referral may be required

    Penn Heart And Vascular Center

    3400 Civic Center Boulevard, East Pavilion, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Mahesh Vidula is a Cardiologist and a Radiologist practicing medicine in Philadelphia, Pennsylvania. 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, Internal Medicine, 2018, and Cardiovascular Disease, 2021. Dr. Vidula is currently accepting new patients.

    Distinguished in Fabry Disease
    Medical Genetics
    Distinguished in Fabry Disease
    Medical Genetics
    Referral required

    Penn Translational Medicine And Human Genetics

    3400 Civic Center Boulevard, South Pavilion, 1st Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Staci Kallish is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Kallish is rated as a Distinguished provider by MediFind in the treatment of Fabry Disease. She is also highly rated in 104 other conditions, according to our data. Her clinical expertise encompasses Neurofibromatosis Type 1 (NF1), Gaucher Disease Type 1, Fabry Disease, and Neurofibromatosis. Dr. Kallish is board certified in Clinical Genetics And Genomics, 2022 and Med Genetics/Clinical Biochem (AMA)Pediatrics, 2008.

    Advanced in Fabry Disease
    Advanced in Fabry Disease
    Referral may be required

    Medical Genetics In Lawrenceville

    4401 Penn Avenue, 
    Pittsburgh, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Damara Ortiz is a Pediatrics provider practicing medicine in Pittsburgh, Pennsylvania. Dr. Ortiz is rated as an Advanced 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, Gaucher Disease, Gaucher Disease Type 1, and Gaucher Disease Type 3. Dr. Ortiz is board certified in American Board Of Pediatrics and American Board Of Medical Genetics And Genomics. Dr. Ortiz is currently accepting new patients.

    Advanced in Fabry Disease
    Advanced in Fabry Disease
    Referral may be required

    Penn Heart And Vascular Center

    3400 Civic Center Boulevard, East Pavilion, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Anjali Owens is a Cardiologist practicing medicine in Philadelphia, Pennsylvania. Dr. Owens is rated as an Advanced provider by MediFind in the treatment of Fabry Disease. She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Cardiomyopathy, Hypertrophic Cardiomyopathy (HCM), Familial Hypertrophic Cardiomyopathy, Heart Transplant, and Cardiac Ablation. Dr. Owens is currently accepting new patients.

    Advanced in Fabry Disease
    Family Medicine
    Advanced in Fabry Disease
    Family Medicine

    UPMC Primary Care

    610 High Street, 
    Lock Haven, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Carrie Timko is a primary care provider, practicing in Family Medicine in Lock Haven, Pennsylvania. Dr. Timko is rated as an Advanced provider by MediFind in the treatment of Fabry Disease. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Type 2 Diabetes (T2D), Megalencephalic Leukoencephalopathy with Subcortical Cysts, and Multiple Sulfatase Deficiency. Dr. Timko is board certified in American Board Of Family Medicine.

    Experienced in Fabry Disease
    Family Medicine
    Experienced in Fabry Disease
    Family Medicine

    Greater Philadelphia Pharmacy

    1401 S 31st St, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Adam Rom is a primary care provider, practicing in Family Medicine in Philadelphia, Pennsylvania. Dr. Rom is rated as an Experienced 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 Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, Hypertension, and Type 2 Diabetes (T2D). Dr. Rom is currently accepting new patients.

    Experienced in Fabry Disease
    Family Medicine
    Experienced in Fabry Disease
    Family Medicine

    Crawford County Sub-Specialists Group

    640 Alden St, 
    Meadville, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Marianne Suprys is a primary care provider, practicing in Family Medicine in Meadville, Pennsylvania. Dr. Suprys is rated as an Experienced 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 Childhood Iron Deficiency Anemia, High Cholesterol, Type 2 Diabetes (T2D), and Maturity Onset Diabetes of the Young. Dr. Suprys is currently accepting new patients.

    Advanced in Fabry Disease
    Internal Medicine
    Advanced in Fabry Disease
    Internal Medicine
    1086 Franklin St, 
    Johnstown, PA 
    Languages Spoken:
    English

    Mohamed Atta is a primary care provider, practicing in Internal Medicine in Johnstown, Pennsylvania. Dr. Atta is rated as an Advanced 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 Lupus Nephritis, Glomerulonephritis, Interstitial Nephritis, Kidney Transplant, and Liver Transplant.

    Advanced in Fabry Disease
    Medical Genetics | Pediatrics | Physiatry
    Advanced in Fabry Disease
    Medical Genetics | Pediatrics | Physiatry
    Referral may be required

    Childrens Health Care Associates Inc

    3401 Civic Ctr Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as an Advanced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses Classic Galactosemia, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Urea Cycle Disorders (UCD), and Gaucher Disease.

    Experienced in Fabry Disease
    Experienced in Fabry Disease
    Referral may be required

    Geisinger Medical Center - Nephrology

    100 North Academy Avenue, 
    Danville, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Jamie Green is a Nephrologist practicing medicine in Danville, Pennsylvania. Dr. Green is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Chronic Kidney Disease, Nephrosclerosis, Renovascular Hypertension, and Fabry Disease. Dr. Green is board certified in The American Board Of Internal Medicine In Nephrology. Dr. Green is currently accepting new patients.

    Experienced in Fabry Disease
    Experienced in Fabry Disease
    Referral may be required

    GMC Neurology

    100 North Academy Avenue, 
    Danville, PA 
    Languages Spoken:
    English, Spanish
    Accepting New Patients
    Offers Telehealth

    Scott Friedenberg is a Neurologist practicing medicine in Danville, Pennsylvania. Dr. Friedenberg is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 40 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Guillain-Barre Syndrome, Chronic Polyradiculoneuritis, and Miller-Fisher Syndrome. Dr. Friedenberg is currently accepting new patients.

    Experienced in Fabry Disease
    Internal Medicine
    Experienced in Fabry Disease
    Internal Medicine

    UPMC Wellsboro Office Of Internal Medicine

    103 West Avenue, 
    Wellsboro, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Walter Laibinis is a primary care provider, practicing in Internal Medicine in Wellsboro, Pennsylvania. Dr. Laibinis is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Osteoarthritis, Pneumonia, Osteoporosis, Postmenopausal Osteoporosis, and Endoscopy. Dr. Laibinis is board certified in American Board Of Internal Medicine. Dr. Laibinis is currently accepting new patients.

    Experienced in Fabry Disease
    Experienced in Fabry Disease
    Referral may be required

    Medical Genetics Metabolic In Lawrenceville

    4401 Penn Avenue, 
    Pittsburgh, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Gerard Vockley is a Pediatrics provider practicing medicine in Pittsburgh, Pennsylvania. Dr. Vockley is rated as an Experienced 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 Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, and Thymidine Kinase 2 Deficiency (TK2d). Dr. Vockley is board certified in American Board Of Medical Genetics And Genomics and American Board Of Medical Genetics And Genomics . Dr. Vockley is currently accepting new patients.

    Showing 1-20 of 36

    Last Updated: 09/26/2026

    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 near Philadelphia, PA?

    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 near Philadelphia, PA?

    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 near Philadelphia, PA?

    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 near Philadelphia, PA?

    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 near Philadelphia, PA?

    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 near Philadelphia, PA?

    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 near Philadelphia, PA?

    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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