Ehlers-Danlos syndrome type 4
Monday 24 January 2005
Ehlers-Danlos syndrome type IV is the vascular type of Ehlers-Danlos syndromes (EDSs).
It is an autosomal dominant collagen disease defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.
The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases.
The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter.
Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae) are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture.
EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen.
Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene.
Clinical differential diagnosis
- coagulation disorders
- Silverman syndrome
- other Ehlers-Danlos syndromes
- Marfan syndrome
- Loeys-Dietz syndrome.
early loss of teeth
mitral valve prolapse
spontaneous rupture of bowel
uterine rupture associated with pregnancy
hypermobility of distal interphalangeal joints
atrophic skin over ears
prominent venous markings
absent-mild skin hyperextensibility
skin changes worse in areas of lower skin temperature
acrogeria (skin over hands and feet are thin and finely wrinkled)
alopecia of scalp
premature delivery because of cervical insufficiency or membrane fragility
death usually occurs before 5th decade
- coronary arteriomegaly
- arterial aneurysms
- intracranial aneurysms
- spontaneous arterial rupture
- bilateral renal artery dissection
- hematoma of the ascending aorta
hepatic epithelioid hemangioendothelioma
situs solitus with dextrocardia
germline mutations in the gene COL3A1 coding for type III collagen (COL3s) (MIM.120180)
connective tissue diseases
Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis. 2007 Jul 19;2(1):32 PMID: 17640391