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PubMed This is a summary of 24 peer-reviewed journal articles Updated
Neurology

Building Your Care Team: Specialists and Preparation

At a Glance

Because Kearns-Sayre Syndrome (KSS) affects multiple body systems, patients require a multidisciplinary care team. A neurologist or clinical geneticist typically coordinates care alongside a cardiac electrophysiologist, neuro-ophthalmologist, and endocrinologist to manage the complex symptoms.

Kearns-Sayre Syndrome (KSS) is too complex for any single doctor to manage alone. Because it can affect the heart, brain, eyes, and hormone systems simultaneously, you will need a multidisciplinary care team [1][2].

Think of your care team as an orchestra; while there are many different instruments (specialists), you need a conductor (a lead specialist) to ensure everyone is playing from the same sheet of music [3][4].

Your Core Care Team

Most patients with KSS should be followed by a core group of specialists who understand the unique demands of mitochondrial disease:

  • Neurologist or Clinical Geneticist: This doctor often serves as the “quarterback” or lead coordinator. They should have specific expertise in mitochondrial medicine and will manage the overall progression of the disease [5][6].
  • Cardiac Electrophysiologist (EP): This is a cardiologist who specializes in the heart’s electrical system. They are the most critical team member for preventing sudden heart block [7][8].
  • Neuro-ophthalmologist: A specialist who understands how the brain and eyes work together. They will monitor your pigmentary retinopathy and manage eye muscle weakness (CPEO) [9][10].
  • Endocrinologist: This specialist monitors the glands that produce hormones, watching for signs of diabetes, thyroid issues, or calcium regulation problems (hypoparathyroidism) [11][12].
  • Genetic Counselor: While KSS is usually sporadic, families often have immense anxiety about inheritance. A counselor is crucial for providing accurate recurrence risks, especially for female patients [13].

Evaluating a Specialist’s Expertise

Because KSS is so rare, you may encounter doctors who have never treated it before. You can evaluate a potential doctor’s expertise by asking targeted questions:

  1. “How many patients with single large-scale mtDNA deletions have you cared for?” [14].
  2. “Are you comfortable collaborating with my other specialists to coordinate my care?” [3].
  3. “What is your experience with the specific risks KSS poses in your field (e.g., heart block in cardiology or retinal atrophy in ophthalmology)?” [7][10].

Preparing for Your First Visit

Mitochondrial clinics often require a significant amount of “hard data” to provide an accurate assessment. Compile a folder (physical or digital) that includes:

Essential Genetic Records

  • The full laboratory report from your genetic testing (not just a summary letter). This should detail the size and location of the mitochondrial DNA deletion [15][16].
  • If a muscle biopsy was performed, include the pathology report that mentions “ragged red fibers” or other mitochondrial changes [17].

Cardiac and Neurological Data

  • Copies of recent EKG strips and Holter monitor reports [7][18].
  • A disk containing your most recent brain MRI images (not just the written report) [19][20].

Baseline Lab Results

  • Recent blood tests for glucose, calcium, and thyroid-stimulating hormone (TSH) [11][21].
  • Results for mitochondrial biomarkers like GDF-15 or FGF-21 if they have been tested [22][23].

Bringing these documents to your first appointment saves time and ensures your new care team has the information they need to protect your health from day one [6][24].

Common questions in this guide

What doctors do I need to see for Kearns-Sayre Syndrome?
Because KSS affects multiple body systems, you need a multidisciplinary team. A neurologist or clinical geneticist typically leads a team that includes a cardiac electrophysiologist, neuro-ophthalmologist, and endocrinologist.
What information should I bring to my first mitochondrial clinic visit?
Bring your full genetic testing lab report, muscle biopsy pathology reports, recent EKG and Holter monitor results, brain MRI disks, and baseline metabolic blood tests. Having this hard data readily available helps your team assess your health accurately from day one.
Why does a KSS patient need to see a cardiac electrophysiologist?
KSS carries a high risk of sudden heart block due to issues in the heart's electrical system. A cardiac electrophysiologist specializes in monitoring and treating these specific electrical problems to prevent life-threatening complications.
How can I tell if a specialist is qualified to treat KSS?
Ask the doctor how many patients with single large-scale mtDNA deletions they have personally managed. You should also ensure they are comfortable collaborating with your other doctors, as coordinated care is crucial for this complex condition.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How many other patients with mitochondrial DNA deletion syndromes, like KSS or Pearson syndrome, have you personally managed?
  2. 2.Are you familiar with the clinical care consensus guidelines published by the Mitochondrial Medicine Society (MMS)?
  3. 3.If my case becomes more complex, do you have a relationship with a regional 'Mitochondrial Center of Excellence' for consultation?
  4. 4.Who on my team will act as the 'quarterback' to coordinate communication between the cardiologist, endocrinologist, and other specialists?
  5. 5.What is your protocol for managing anesthesia or metabolic stress (like a high fever) in a patient with mitochondrial disease?

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References

References (24)
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    Mitochondrial diseases in adults.

    La Morgia C, Maresca A, Caporali L, et al.

    Journal of internal medicine 2020; (287(6)):592-608 doi:10.1111/joim.13064.

    PMID: 32463135
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    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

    Schon KR, Horvath R, Wei W, et al.

    BMJ (Clinical research ed.) 2021; (375()):e066288 doi:10.1136/bmj-2021-066288.

    PMID: 34732400
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    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

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    Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(12)) doi:10.1038/gim.2017.107.

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    Diagnostic odyssey of patients with mitochondrial disease: Results of a survey.

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    Neurology. Genetics 2018; (4(2)):e230 doi:10.1212/NXG.0000000000000230.

    PMID: 29600276
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    Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

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    Genes 2021; (12(12)) doi:10.3390/genes12121918.

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    Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence.

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    Prophylactic pacemaker placement at first signs of conduction disease in Kearns-Sayre syndrome.

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    The necessity of implantable cardioverter defibrillators in patients with Kearns-Sayre syndrome - systematic review of the articles.

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    Teaching NeuroImages: Kearns-Sayre syndrome.

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    Macular findings in Spectral Domain Optical Coherence Tomography and OCT Angiography in a patient with Kearns-Sayre syndrome.

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    Ophthalmoplegia in Mitochondrial Disease.

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    Management of Ptosis in Kearns-Sayre Syndrome: A Case Report and Literature Review.

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This guide on building a Kearns-Sayre Syndrome care team is for informational purposes only. Always consult your primary physician or geneticist to determine the exact specialists required for your specific medical needs.

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