Ehlers Danlos Syndrome Flashcards
What is the genetic inheritance pattern and primary defect in a patient who comes in due to a strange scar, a mid systolic click that is discovered on auscultation of the heart at the apex, and the patient also appears to have hyper-extendable joints on physical exam?
Ehlers-Danlos Syndrome can be inherited in an autosomal dominant or autosomal recessive manner, depending on the subtype, and involves defects in collagen synthesis.
Can be caused by procollagen peptidase deficiency.
There are 13 subtypes in total.
Which types of collagen are most commonly affected in Ehlers-Danlos Syndrome (EDS)?
Hypermobile EDS is the most common type and the genetic defect is unknown.
Classic EDS is when Type V collagen (COL5A1, COL5A2) is affected.
Classic-like EDS is when Tenascin X is affected.
Vascular EDS is when Type III procollagen (COL3A1) is affected.
What are the features of Ehlers-Danlos Syndrome seen in the most common subtype?
Hypermobile EDS is the most common subtype and the genetic defect is unknown:
- Joint instability (e.g., shoulder and patella dislocations) predominates
- Small and large joint hyper-mobility (hyper-extensibility)
- Chronic joint pain
- Premature osteoarthritis
- Scoliosis
- Abdominal hernia
What are the features of Classic Ehlers-Danlos Syndrome ?
Classic EDS is when Type V collagen (COL5A1, COLA2) is affected:
- Generalized joint hypermobility
- spontaneous bleeding
- Subluxations of the patella, temporomandibular joint as well as shoulder
- Hyperextensibility
- Atrophic scars
- Easy bruising and poor wound healing
- Scoliosis
- Abdominal hernia
What are the features associated with vascular EDS?
Vascular EDS is when Type III procollagen (COL3A1) is affected:
- Characteristic facial features: prominent eyes, thin face and nose, small lips, lobeless ear
- Small joint hypermobility (mild)
- Thin, translucent skin
- Easy bruising and poor wound healing
- Atrophic scars
- Varicosis
- Spontaneous arterial (berry/saccular) aneurysms, dissection of the aorta
- Spontaneous organ rupture (e.g., colon, gravid uterus)
What is the most common cause of death in a patient with EDS?
Aortic dissection.
“cystic medial degeneration”
What are the primary features of Type III Ehlers-Danlos Syndrome, also known as the hypermobility type?
Type III (hypermobility type) primarily involves joint hypermobility, frequent joint dislocations, and musculoskeletal complaints, with minimal skin involvement.
Aortic dissection, thoracic aortic aneurysm, poor would healing as well as wound dehiscence, rupture of colon (thicker fecal material) or uterus, are known to occur.
A patient with a history of a recent abdominal surgery now presents with fever, vomiting, lack of flatulence, distention, and signs of septic shock, what could be the underlying pathophysiology if in the patient’s history there are other signs of hypermobility in the joints?
This could be a patient with Ehlers-Danlos syndrome and in particular the type III subtype where organ rupture as well as wound dehiscence can present with significant morbidity and mortality if proper history has not been conducted.
Other significant associations of this subtype include aortic dissection, aortic aneurysm, mitral valve prolapse, and intracranial aneurysms leading to subarachnoid hemorrhages.
What are the obstetric complications associated with Ehlers-Danlos Syndrome?
Obstetric complications include pelvic organ prolapse and an increased risk of uterine rupture and complications during labor.
Cervical incompetence.
How is Ehlers-Danlos Syndrome diagnosed and managed?
Ehlers-Danlos Syndrome is diagnosed clinically, supported by genetic testing. Management is supportive, with close monitoring for complications such as vascular events.
