Thursday, April 27, 2017

Ehlers Danlos Syndrome in Family Medicine: Painful Surprise

Ehlers Danlos Syndrome:  Rare? Not so Rare? Not even Rare?  Pain, Pain and Pain.  It drips with clues to the possible presence of a connective tissue disorder.  When I was in medical school, the more likely term was collagen vascular disease.  Marfan's Syndrome became the poster child for this group of diseases/conditions.  Now it should be Ehlers Danlos Syndrome (EDS).

Coming in at 1 in 100 persons (per Dr. Nielson- EDS wizard at the University of Cincinnati, with whom I strongly agree), it races by hemochromatosis and others as a disease to know to provide care for patients in Family Medicine.  Every Family Physician has several patients with this diagnosis that hasn't been made.

The categorization of EDS types was reorganized in March of 2017 for better understanding.  The term Hypermobility Spectrum Disorders is added to better understand EDS and that which is beyond EDS.  It will take a while for physicians to get acquainted with the clarification.  Most family physicians are not aware of the prevalence of EDS in their daily practices, especially patients with pain syndromes.

What is Ehlers Danlos Syndrome?

From the EDS Society:  "Ehlers-Danlos syndromes are a group of connective tissue disorders that can be inherited and are varied both in how affect the body and in their genetic causes. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility. (For information about the hypermobility spectrum disorders, please visit “About HSD”.)
The Ehlers-Danlos syndromes (EDS) are currently classified in a system of thirteen subtypes. Each EDS subtype has a set of clinical criteria that help guide diagnosis; a patient’s physical signs and symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete fit. There is substantial symptom overlap between the EDS subtypes and the other connective tissue disorders including hypermobility spectrum disorders, as well as a lot of variability, so a definitive diagnosis for all the EDS subtypes—except for hypermobile EDS (hEDS)—also calls for confirmation by testing to identify the responsible variant for the gene affected in each subtype."

Per Genetics Home Reference Definition

What are the types of Ehlers Danlos Syndrome?

Chart of Types of EDS with detailed definitions.