You might first bring your concerns to the attention of your family doctor, but he or she may refer you to a doctor who specializes in genetic diseases.
What you can do
Before your appointment, you may want to write a list of answers to the following questions:
- What types of symptoms are you experiencing?
- Have your parents, grandparents or siblings had similar symptoms?
- Has any blood relative died of a ruptured blood vessel or organ?
- What medications and supplements do you take regularly?
What to expect from your doctor
Your doctor may ask some of the following questions:
Aug. 20, 2015
- Are any of your joints overly flexible?
- Is your skin extra stretchy?
- Does your skin heal poorly after injuries?
- Firestein GS, et al. Heritable diseases of connective tissue. In: Kelley's Textbook of Rheumatology. 9th ed. Philadelphia, Pa.: Saunders Elsevier; 2013. http://www.clinicalkey.com. Accessed June 30, 2015.
- Pauker SP, et al. Clinical manifestations and diagnosis of Ehlers-Danlos syndrome. http://www.uptodate.com/home. Accessed June 30, 2015.
- Goldsmith LA, et al., eds. Lipoid proteinosis and heritable disorders of connective tissue. In: Fitzpatrick's Dermatology in General Medicine. 8th ed. New York, N.Y.: The McGraw-Hill Companies; 2012. http://www.accessmedicine.com. Accessed June 30, 2015.
- Pauker SP, et al. Overview of the management of Ehlers-Danlos syndrome. http://www.uptodate.com/home. Accessed June 30, 2015.
- Ferri FF. Ehlers-Danlos syndrome. In: Ferri's Clinical Advisor 2016. Philadelphia, Pa.: Mosby Elsevier; 2016. https://www.clinicalkey.com. Accessed June 30, 2015.
- Ehlers Danlos syndrome. National Organization for Rare Disorders. http://rarediseases.org/rare-diseases/ehlers-danlos-syndrome. Accessed July 2, 2015.
- AskMayoExpert. Ehlers-Danlos syndrome. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2014.
- An educator's guide: Meeting the needs of the Ehlers-Danlos child. Ehlers-Danlos National Foundation. http://ednf.org/patient-resource-library. Accessed July 2, 2015.
- Golden AK. Decision Support System. Mayo Clinic, Rochester, Minn. March 31, 2015.
- Deyle DR (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 7, 2015.