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    Last Updated: 10/30/2025

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    MediFind found 36 doctor with experience in Fabry Disease near Pennsylvania, US. Of these, 28 are Experienced, 7 are Advanced and 1 are Distinguished.

    Location
    LocationClose
    36 providers found
      Advanced in Fabry Disease
      Internal Medicine
      Advanced in Fabry Disease
      Internal Medicine
      500 Plaza Court, Suite B, 
      East Stroudsburg, PA 
      Languages Spoken:
      English

      Jonathan Goldner is a primary care provider, practicing in Internal Medicine in East Stroudsburg, Pennsylvania. Dr. Goldner is rated as an Advanced provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are High Cholesterol, Cirrhosis, Familial Combined Hyperlipidemia, Xanthoma, and Splenectomy.

      Advanced in Fabry Disease
      Cardiac Electrophysiology | Cardiology
      Advanced in Fabry Disease
      Cardiac Electrophysiology | Cardiology

      Lehigh Valley Physician Group

      1569 Medical Dr, Suite 202, 
      Pottstown, PA 
      Languages Spoken:
      English

      Praveer Jain is a Cardiac Electrophysiologist and a Cardiologist in Pottstown, Pennsylvania. Dr. Jain is rated as an Advanced provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are Cardiomyopathy, Familial Neurocardiogenic Syncope, Bidirectional Tachycardia, Pacemaker Implantation, and Cardiac Ablation.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Anjali T. Owens
      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 in Philadelphia, Pennsylvania. Dr. Owens is rated as an Advanced provider by MediFind in the treatment of Fabry Disease. Her top areas of expertise are Cardiomyopathy, Hypertrophic Cardiomyopathy (HCM), Familial Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy (DCM), and Heart Transplant. Dr. Owens is currently accepting new patients.

      Learn about our expert tiers
      Experienced in Fabry Disease
      Experienced in Fabry Disease

      Lehigh Valley Physician Group

      1210 S Cedar Crest Blvd, 
      Allentown, PA 
      Languages Spoken:
      English

      Karthik Sheka is a Cardiologist in Allentown, Pennsylvania. Dr. Sheka is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are Necrosis, Heart Attack, Apoplexy, Coronary Artery Bypass Graft (CABG), and Heart Bypass Surgery.

      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
      Accepting New Patients
      Offers Telehealth

      Staci Kallish is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Kallish is rated as a Distinguished provider by MediFind in the treatment of Fabry Disease. Her top areas of expertise are Neurofibromatosis Type 1 (NF1), Gaucher Disease Type 1, Fabry Disease, and Neurofibromatosis. Dr. Kallish is currently accepting new patients.

      Sharlene M. Day
      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 in Philadelphia, Pennsylvania. Dr. Day is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. Her top areas of expertise are Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Orchiectomy, and Heart Transplant. Dr. Day is currently accepting new patients.

      Damara Ortiz
      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. Her top areas of expertise are Fabry Disease, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Multiple Sulfatase Deficiency, and Gaucher Disease Type 2.

      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 in Center Radnor, Pennsylvania. Dr. Feria is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are Familial Hypertrophic Cardiomyopathy, Sengers Syndrome, Hypertrophic Cardiomyopathy (HCM), and Subvalvular Aortic Stenosis. Dr. Feria 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
      Offers Telehealth

      Victor Ferrari is a Cardiologist in Philadelphia, Pennsylvania. Dr. Ferrari is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are Cardiomyopathy, Bicuspid Aortic Valve, Sengers Syndrome, Heart Valve Repair, and Cardiac Ablation. Dr. Ferrari 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

      David Frankel is a Cardiologist in Philadelphia, Pennsylvania. Dr. Frankel is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are Ventricular Tachycardia, Arrhythmias, Cardiomyopathy, Cardiac Ablation, and Pacemaker Implantation. Dr. Frankel 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

      Benedicte Lefebvre is a Cardiologist in Philadelphia, Pennsylvania. Dr. Lefebvre is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. Her top areas of expertise are Sengers Syndrome, Heart Failure, Familial Hypertrophic Cardiomyopathy, Patent Foramen Ovale, and Patent Foramen Ovale Repair. Dr. Lefebvre 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

      Mahesh Vidula is a Cardiologist in Philadelphia, Pennsylvania. Dr. Vidula is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are Sarcoidosis, Cardiomyopathy, Myocarditis, Heart Failure, and Percutaneous Coronary Intervention (PCI). Dr. Vidula is currently accepting new patients.

      Advanced in Fabry Disease
      Advanced in Fabry Disease

      St Lukes Physician Group Inc

      1872 St Lukes Blvd, Fl 1, 
      Easton, PA 
      Languages Spoken:
      English

      Jose Avila is a Nephrologist in Easton, Pennsylvania. Dr. Avila is rated as an Advanced provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are Renovascular Hypertension, Acute Kidney Failure, Low Sodium Level, and End-Stage Renal Disease (ESRD).

      Advanced in Fabry Disease
      Advanced in Fabry Disease
      7810 Old York Rd, 
      Elkins Park, PA 
      Languages Spoken:
      English

      Juliette Louis-Charles is a primary care provider, practicing in Family Medicine in Elkins Park, Pennsylvania. Dr. Louis-Charles is rated as an Advanced provider by MediFind in the treatment of Fabry Disease. Her top areas of expertise are Fabry Disease, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Multiple Sulfatase Deficiency, and Epidermolysis Bullosa Acquisita.

      Advanced in Fabry Disease
      Medical Genetics | Pediatrics | Physiatry
      Advanced in Fabry Disease
      Medical Genetics | Pediatrics | Physiatry

      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 in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as an Advanced provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are Classic Galactosemia, Urea Cycle Disorders (UCD), Galactose Epimerase Deficiency, and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome).

      Walter Laibinis
      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, DO, specializes in internal medicine. He practices at UPMC Wellsboro Internal Medicine and is affiliated with UPMC Wellsboro. He completed his residency at Geisinger Medical Center and medical degree at Philadelphia College of Osteopathic Medicine. Dr. Laibinis is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. His top areas of expertise are Osteoarthritis, Pneumonia, Postmenopausal Osteoporosis, Osteoporosis, and Endoscopy.

      Gerard Vockley
      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. His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, and Arginase Deficiency.

      Gavin W. Hickey
      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. His top areas of expertise are Cardiogenic Shock, Heart Failure, Heart Attack, Pulmonary Hypertension, and Heart Transplant.

      Jill Burns
      Experienced in Fabry Disease
      Internal Medicine
      Experienced in Fabry Disease
      Internal Medicine

      UPMC Susquehanna Health, Supportive & Palliative Care

      1100 Grampian Boulevard, 
      Williamsport, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Jill Burns is a primary care provider, practicing in Internal Medicine in Williamsport, Pennsylvania. Dr. Burns is rated as an Experienced provider by MediFind in the treatment of Fabry Disease. Her top areas of expertise are Pneumonia, Atypical Pneumonia, Hospital-Acquired Pneumonia, Sepsis, and Endoscopy. Dr. Burns is currently accepting new patients.

      Jonathan E. Holtz
      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. His top areas of expertise are Heart Failure with Preserved Ejection Fraction (HFpEF), Heart Failure, Pulmonary Edema, Necrosis, and Lung Transplant.

      Showing 1-20 of 36

      Last Updated: 10/30/2025

      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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