Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (EDS) is an inherited connective tissue disorder that is classified into six distinct primary types. EDS was first described around the turn of the century by Eduard Ehlers, a Danish physician, and Henri-Alexandre Danlos, a French physician. Before 1997 there were ten recognized types of EDS that were labeled with Roman numerals I through X. Once doctors had more experience with patients with EDS and as technology improved to study biochemical properties of tissue, it was recognized that some subtypes could be combined and reclassified. At a meeting in Villefranche-sur-Mer, France in 1997, experts in the field of connective tissue disorders such as Dr. Peter Beighton, Dr. Tsipouras and …show more content…
By this stage many patients feel as though they have a body of an eighty year old despite being only thirty due to the level of pain and osteoarthritis. Frustration occurs as the pain level increases and recurrent subluxations or dislocations impact the patient’s life. Many patients have gone to numerous doctors or specialists only to be told that they are clumsy or that they are exaggerating the pain level. When a diagnosis is finally given, it is usually a relief to the patient to finally have an answer. Although there is no cure, physical therapy to strengthen muscles to make up for the lax ligaments can provide some strength to stabilize the joints to minimize injury. Orthotics can also provide support. Pain management is an important …show more content…
A new seventh type is being discussed – Tenascin – X Deficient based on a recent discovery of tenascin contributing to EDS.
While the six subtypes of Ehlers- Danlos Syndrome affect different parts of the body, defective collagen is the common characteristic. Since collagen is present throughout the body with each collagen form present in different amounts in each body system, the effects of Ehlers- Danlos Syndrome are diverse. Ehlers-Danlos Syndrome is still widely undiagnosed as many doctors have not kept current with the revised nosology and think of it as a rare disorder. The prevalence of EDS is thought to be higher due to the lack of appropriate diagnosis.
Medical students are taught the following saying: “If you hear hoof beats, think horses.” In other words, based on the symptoms you see think of the most likely or common cause or diagnosis. Don’t think of the rare causes because they are not likely to happen. However, in the case of Ehlers-Danlos Syndrome, a relatively rare genetic disorder, the symptoms are not due to clumsiness or just a common joint problem. A favorite twist on the saying for patients with Ehlers-Danlos is, “If you hear hoof beats, think zebras.” While no cure has been developed for EDS, there is hope for a brighter tomorrow. Research is directed at genetic
Ehlers-Danlos Syndrome (EDS) is an inherited connective tissue disorder that is classified into six distinct primary types. EDS was first described around the turn of the century by Eduard Ehlers, a Danish physician, and Henri-Alexandre Danlos, a French physician. Before 1997 there were ten recognized types of EDS that were labeled with Roman numerals I through X. Once doctors had more experience with patients with EDS and as technology improved to study biochemical properties of tissue, it was recognized that some subtypes could be combined and reclassified. At a meeting in Villefranche-sur-Mer, France in 1997, experts in the field of connective tissue disorders such as Dr. Peter Beighton, Dr. Tsipouras and …show more content…
By this stage many patients feel as though they have a body of an eighty year old despite being only thirty due to the level of pain and osteoarthritis. Frustration occurs as the pain level increases and recurrent subluxations or dislocations impact the patient’s life. Many patients have gone to numerous doctors or specialists only to be told that they are clumsy or that they are exaggerating the pain level. When a diagnosis is finally given, it is usually a relief to the patient to finally have an answer. Although there is no cure, physical therapy to strengthen muscles to make up for the lax ligaments can provide some strength to stabilize the joints to minimize injury. Orthotics can also provide support. Pain management is an important …show more content…
A new seventh type is being discussed – Tenascin – X Deficient based on a recent discovery of tenascin contributing to EDS.
While the six subtypes of Ehlers- Danlos Syndrome affect different parts of the body, defective collagen is the common characteristic. Since collagen is present throughout the body with each collagen form present in different amounts in each body system, the effects of Ehlers- Danlos Syndrome are diverse. Ehlers-Danlos Syndrome is still widely undiagnosed as many doctors have not kept current with the revised nosology and think of it as a rare disorder. The prevalence of EDS is thought to be higher due to the lack of appropriate diagnosis.
Medical students are taught the following saying: “If you hear hoof beats, think horses.” In other words, based on the symptoms you see think of the most likely or common cause or diagnosis. Don’t think of the rare causes because they are not likely to happen. However, in the case of Ehlers-Danlos Syndrome, a relatively rare genetic disorder, the symptoms are not due to clumsiness or just a common joint problem. A favorite twist on the saying for patients with Ehlers-Danlos is, “If you hear hoof beats, think zebras.” While no cure has been developed for EDS, there is hope for a brighter tomorrow. Research is directed at genetic