The 20 Best Fabry Disease Doctors Near Me in Pennsylvania, US

Find the Top Fabry Disease Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 35 doctor with experience in Fabry Disease near Pennsylvania, US. Of these, 27 are Experienced, 7 are Advanced and 1 are Distinguished.

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35 providers found
    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
    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.

    Learn about our expert tiers
    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.

    Advanced in Fabry Disease
    Pediatrics
    Advanced in Fabry Disease
    Pediatrics

    Medical Genetics Metabolic In Lawrenceville

    4401 Penn Avenue, 
    Pittsburgh, PA 
    Languages Spoken:
    English

    Damara Ortiz, MD, specializes in medical genetics and pediatric genetics and genomics and is board-certified in pediatrics by the American Board of Pediatrics and clinical genetics by the American Board of Medical Genetics and Genomics. She is affiliated with UPMC Children's Hospital of Pittsburgh, UPMC Magee-Womens Hospital and UPMC Presbyterian. Dr. Ortiz completed her fellowship at Icahn School of Medicine at Mount Sinai, residency at NYU Langone Medical Center and medical degree from the University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School. Dr. Ortiz is rated as an Advanced 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 Fabry Disease, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Multiple Sulfatase Deficiency, and Gaucher Disease. Dr. Ortiz is board certified in American Board Of Pediatrics and American Board Of Medical Genetics And Genomics.

    Advanced in Fabry Disease
    Advanced in Fabry Disease

    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 20 other conditions, according to our data. Her clinical expertise encompasses Cardiomyopathy, Hypertrophic Cardiomyopathy (HCM), Familial Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy (DCM), and Heart Transplant. Dr. Owens is currently accepting new patients.

    Advanced in Fabry Disease
    Cardiology
    Advanced in Fabry Disease
    Cardiology

    LVPG Cardiology-Bangor

    1337 Blue Valley Drive, Suite 7, 
    Pen Argyl, PA 
    Languages Spoken:
    English, Hindi
    Offers Telehealth

    Praveer Jain is a Cardiologist practicing medicine in Pen Argyl, Pennsylvania. Dr. Jain is rated as an Advanced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 20 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 - Clinical Cardiac Electrophysiology , American Board Of Internal Medicine - Cardiovascular Disease , and American Board Of Internal Medicine - Internal Medicine.

    Distinguished in Fabry Disease
    Medical Genetics
    Distinguished in Fabry Disease
    Medical Genetics

    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 103 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.

    Experienced in Fabry Disease
    Experienced in Fabry Disease

    Geisinger Medical Center - Nephrology

    100 North Academy Avenue, 
    Danville, PA 
    Languages Spoken:
    English

    Dr. Green is a board-certified and fellowship-trained nephrologist. She obtained her medical degree from Temple University. She completed her residency at Massachusetts General Hospital, and her fellowship in nephrology at the University of Pittsburgh. Dr. Green is certified by the American Board of Internal Medicine in nephrology. 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 Nephrosclerosis, Renovascular Hypertension, Chronic Kidney Disease, and Fabry Disease. Dr. Green is board certified in The American Board Of Internal Medicine In Nephrology.

    Experienced in Fabry Disease
    Experienced in Fabry Disease

    GMC Neurology

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

    Dr. Friedenberg is a neurologist board certified in neurology, neurophysiology and electromyography by the American Board of Psychiatry and Neurology. His clinical interests include neuromuscular disease (including ALS and muscular dystrophy), electromyography, general neurology and neurologic education. He earned his medical degree from Temple University, and completed his residency and fellowship at Mayo Clinic, Rochester, MN. 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
    Experienced in Fabry Disease

    Medical Genetics Metabolic In Lawrenceville

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

    Gerard (Jerry) Vockley MD, PhD, is a medical geneticist and is certified in clinical genetics and biochemical and molecular genetics by the American Board of Medical Genetics and Genomics. He is chief of the Division of Medical Genetics, director of the Center for Rare Disease Therapy, and is the Cleveland Family Endowed Professor of pediatric research at the University of Pittsburgh School of Medicine. He completed his medical degree and PhD at the University of Pennsylvania and completed his residency at the University of Colorado, followed by his fellowship at Yale University School of Medicine. Dr. Vockley is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, and Arginase Deficiency. Dr. Vockley is board certified in American Board Of Medical Genetics And Genomics and American Board Of Medical Genetics And Genomics.

    Experienced in Fabry Disease
    Advanced Heart Failure and Transplant Cardiology | Cardiology
    Experienced in Fabry Disease
    Advanced Heart Failure and Transplant Cardiology | Cardiology

    UPMC Heart And Vascular Institute (Congestive Heart Failure Clinic)

    200 Lothrop Street, UPMC Presbyterian 5B Cardiology, 
    Pittsburgh, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Gavin W. Hickey, MD, is an advanced heart failure and transplant, pulmonary hypertension cardiologist and is board-certified in cardiovascular disease, advanced heart failure and transplant, and echocardiography by the American Board of Internal Medicine and the American Society of Echocardiography. Dr. Hickey 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 Cardiogenic Shock, Heart Failure, Heart Attack, Pulmonary Hypertension, and Heart Transplant. Dr. Hickey is board certified in American Board Of Internal Medicine , American Board Of Internal Medicine , and National Board Of Echocardiography. Dr. Hickey is currently accepting new patients.

    Experienced in Fabry Disease
    Experienced in Fabry Disease

    Geisinger Medical Center - Cardiology

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

    Dr. Mehra specializes in advanced cardiac imaging. His clinical interests include hypertrophic cardiomyopathy and lipid disorders. His research interests include population health, EHR-based phenotyping and genomics. Dr. Mehra earned a PhD in investigative medicine at Yale University after completing his basic training there in internal medicine. Dr. Mehra completed his fellowship in clinical cardiology and advanced cardiac imaging at Johns Hopkins Hospital. Dr. Mehra is board certified by the American Board of Internal Medicine in internal medicine and cardiovascular disease. He also has multiple subspecialty board certifications in various imaging modalities. Dr. Mehra 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 Hypertrophic Cardiomyopathy (HCM), Familial Hypertrophic Cardiomyopathy, Subvalvular Aortic Stenosis, and Atrial Fibrillation. Dr. Mehra is currently accepting new patients.

    Experienced in Fabry Disease
    Transplant Surgery
    Experienced in Fabry Disease
    Transplant Surgery

    UPMC Heart And Vascular Institute, Blair Medical Associates

    1414 9th Avenue, 
    Altoona, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Jonathan Holtz, MD, is an advanced heart failure cardiologist. He is certified in advanced heart failure and transplant cardiology, cardiovascular disease, echocardiography, nuclear cardiology, and internal medicine by the American Board of Internal Medicine, National Board of Echocardiography, and Certification Board of Nuclear Cardiology. He is medical director of advanced heart failure at UPMC Altoona and is a clinical assistant professor of medicine at the University of Pittsburgh School of Medicine. He received his medical degree from Georgetown University School of Medicine and completed his residency at University of California San Francisco, followed by his fellowship at UPMC. Dr. Holtz is rated as an Experienced 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 Heart Failure with Preserved Ejection Fraction (HFpEF), Heart Failure, Pulmonary Edema, Necrosis, and Lung Transplant. Dr. Holtz is board certified in American Board Of Internal Medicine , American Board Of Internal Medicine , National Board Of Echocardiography , and Certification Board Of Nuclear Cardiology. Dr. Holtz is currently accepting new patients.

    Experienced in Fabry Disease
    Experienced in Fabry Disease

    UPMC Kidney Clinic

    120 Lytton Avenue, Suite 201, 
    Pittsburgh, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Cary Shiwarski, MD, PhD, is certified in internal medicine and nephrology by the American Board of Internal Medicine. She practices at UPMC Kidney Clinic at University Center and is affiliated with UPMC Presbyterian, UPMC Mercy, UPMC Magee-Womens Hospital, and UPMC Shadyside. She completed her fellowship, residency, and medical degree at University of Pittsburgh School of Medicine.Are you already a patient of this provider and have a MyUPMC account? Log in to MyUPMC to schedule. Dr. Shiwarski is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. Her clinical expertise encompasses End-Stage Renal Disease (ESRD), Chronic Kidney Disease, Fabry Disease, and Megalencephalic Leukoencephalopathy with Subcortical Cysts. Dr. Shiwarski is board certified in American Board Of Internal Medicine and American Board Of Internal Medicine. Dr. Shiwarski is currently accepting new patients.

    Experienced in Fabry Disease
    Experienced in Fabry Disease

    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, Orchiectomy, and Heart Transplant. Dr. Day is board certified in Cardiovascular Disease, 2012. Dr. Day is currently accepting new patients.

    Experienced in Fabry Disease
    Experienced in Fabry Disease

    LVH Cardiology-1250 Cedar Crest

    1250 S Cedar Crest Blvd, Suite 300, 
    Allentown, PA 
    Languages Spoken:
    English

    Cheri Fadlon is a Cardiologist practicing medicine in Allentown, Pennsylvania. Dr. Fadlon is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Heart Failure with Preserved Ejection Fraction (HFpEF), Danon Disease, Pompe Disease, and Ectopic Heartbeat. Dr. Fadlon is board certified in American Board Of Internal Medicine - Cardiovascular Disease and American Board Of Internal Medicine - Internal Medicine.

    Experienced in Fabry Disease
    Cardiology | Interventional Cardiology
    Experienced in Fabry Disease
    Cardiology | Interventional Cardiology

    LVPG Cardiology-East Stroudsburg

    179 Independence Road, 
    East Stroudsburg, PA 
    Languages Spoken:
    English, Tulu

    Karthik Sheka is a Cardiologist and an Interventional Cardiologist practicing medicine in East Stroudsburg, Pennsylvania. Dr. Sheka 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 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.

    Advanced in Fabry Disease
    Internal Medicine | Geriatrics
    Advanced in Fabry Disease
    Internal Medicine | Geriatrics

    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 Internal Medicine and Geriatrics 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, Xanthoma, and Splenectomy. Dr. Goldner is board certified in American Board Of Internal Medicine - Internal Medicine , American Board Of Internal Medicine - Critical Care Medicine , and American Board Of Internal Medicine - Geriatric Medicine.

    Experienced in Fabry Disease
    Experienced in Fabry Disease

    Penn Heart And Vascular Center Radnor

    145 King Of Prussia Road, Suite 110, 
    Center Radnor, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Alejandro Feria is a Cardiologist practicing medicine in Center Radnor, Pennsylvania. Dr. Feria is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Familial Hypertrophic Cardiomyopathy, Sengers Syndrome, Hypertrophic Cardiomyopathy (HCM), and Subvalvular Aortic Stenosis. Dr. Feria is board certified in Cardiovascular Disease, 2021 and Internal Medicine, 2018. Dr. Feria is currently accepting new patients.

    Showing 1-20 of 35

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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 Pennsylvania, US?

    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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