David W. Hollister M.D.
Reprinted from the Journal of Reproductive Medicine Vol. 36, No. 8, August 1991, pp. 622-24
Permission to reprint this article was granted by Dr. Elmar P. Sakala. A. Appearance
Ehlers-Danlos syndrome (EDS) is a heterogeneous connective tissue disorder rarely complicating pregnancy. Some types are associated with high maternal mortality, while others appear to be more benign. Two term, vaginally delivered pregnancies with good outcomes from one patient were managed with EDS type III. The patient experienced no significant morbidity attributable to the EDS. The only other previously reported case of EDS type III involved serious problems with joint laxity and pain morbidity, requiring preterm cesarean delivery.
Ehlers-Danlos syndrome (EDS), a rare inherited connective tissue disorder, has been associated with numerous pregnancy complications ranging from increased bruising to maternal death. At least 10 varieties of EDS (types I-X) have been identified, based upon either biochemical defects or clinical findings. The likelihood and severity of pregnancy complications appear to vary according to the EDS type. Not all types of EDS are necessarily associated with unacceptable morbidity or mortality rates. However, much of the literature does not identify the EDS type when reporting on complications of pregnancy. There is a need for reporting type-specific outcomes in order to provide accurate pre-pregnancy counseling for EDS patients as well as reliable information for optimizing management of pregnancies when they do occur.
A 29-year-old, white woman, was diagnosed at age 19 as having EDS type III during an evaluation for chronic temporomandibular joint subluxation subsequently treated with temporal tendon scarification. The patient described a history of excessive joint mobility noted first at age 11 months, after dislocating her elbow in falling from her playpen. The patient was able to dislocate her right knee while nearly standing still and was able to dislocate both hips spontaneously. She had undergone multiple knee operations because of injuries incurred during gymnastic activities but had not had bleeding complications. Excessive joint laxity was confirmed on the physical examination. The skin was easily stretched, although the vasculature could not be seen through it.
The patient's mother and maternal grandmother both had dislocatable joints as well as a history of arthritis. Two siblings gave histories of multiple joint dislocations and joint hypermobility. Another sibling had a cerebral arteriovenous malformation with a bruit.
The patient's first pregnancy, at age 24, resulted in an uncomplicated, spontaneous, first-trimester abortion without excessive bleeding.
The patient's second pregnancy occurred at age 26. With a height of 67 inches and pre-pregnancy weight of 143 pounds, she gained only 14 pounds. She received genetic counseling and was informed that the risk of her child's being affected was 50:50. The patient was hospitalized at 21 weeks gestation for severe right lower quadrant pain that resolved spontaneously and was diagnosed subsequently as round ligament syndrome. After gestational diabetes was diagnosed at 30 weeks gestation, the blood glucose values were maintained within the desired range with diet alone. Serial sonograms demonstrated normal fetal growth, and weekly non-stress tests from 32 weeks gestation were reassuring. The patient experienced no activity limitations and ambulated up to the day of delivery.
Labor was induced at 40 weeks gestation after the patient's membranes ruptured spontaneously. A 2-hour, 30-minute active phase and a 1-hour second stage led to the spontaneous vaginal delivery of a healthy, 2,838 gram, female infant with Apgar scores of 8 and 9. A midline episiotomy was repaired without an excessive blood loss. The wound healing was unremarkable.
The pregnancy weight gain for the patient's third pregnancy, at age 28, was 23 pounds. A level II obstetric sonogram showed no fetal anomalies. Genetic amniocentesis was offered, but the patient declined.
Pre-term contractions with minimal cervical dilation were noted at 30 weeks gestation, leading to hospitalization, parenteral (intravenous) tocolytic (an agent that arrests uterine contractions) administration and subsequent outpatient oral terbutaline management. A diabetes screen was negative. Although ambulation was restricted because of pre-term contractions, the patient's ability to walk was not hampered by her joint problems. The tocolytic agents were discontinued at 36 weeks. Spontaneous labor began at 38 weeks. After a 2-hour, 30-minute active phase and a 1-hour, 23-minute second stage, the patient underwent spontaneous vaginal delivery of a healthy, 3,200 gram, male infant with Apgar scores of 9 and 9. A midline episiotomy was repaired without excessive blood loss. The wound healed without complications.
The incidence of EDS in pregnant women has been estimated at 1 in 150,000 (1981). Types I-III are the most common, with the percentage of EDS cases approximately 30 for each (1987). Type IV is found in 10% of cases, with the remaining 6 types exceptionally rare (1987).
It is important to identify the type and severity of risks for pregnancies complicated by the four most common types of EDS. "Gravis" type I EDS, is associated with tissue fragility, hemorrhage and poor wound healing. Maternal mortality with "ecchymotic" type IV EDS, is quoted to be as high as 25% because of arterial rupture. Since types I and IV are the most severe forms of EDS, some authors have suggested that perhaps pregnancy should be contraindicated in those patients. Reports on "mitis" type II EDS patients, describe a relatively benign obstetric course with complications primarily from tissue laxity and limb mobility. Advice to avoid pregnancy does not appear warranted because of type II complications.
The only previously reported case of "benign, hypermobile" type III EDS in pregnancy, involved a patient who had progressive knee instability and sacrolumbar nerve root pain from a prolapsed intervertebral disk. She was hospitalized because of the severe back pain at 27 weeks and managed with bed rest, analgesics, pelvic traction and prophylactic heparin. She underwent a scheduled cesarean delivery at 35 weeks gestation because of uncontrollable pain. Her post-operative healing and recovery were without complications. The authors suggested that type III EDS patients can expect worsening symptoms, possibly requiring a hospital admission.
The experience of our patient, with type III EDS, was far more benign. While she did experience pregnancy complications, she had no significant problems secondary to the EDS. She was able to ambulate throughout the pregnancy and experienced no more skeletal discomfort than does the normal pregnant woman. In spite of pre-term contractions, her cervix did not dilate significantly before term. It is remarkable that her active phase of labor, even with the first delivery, was only 2.5 hours. We did not encounter extensive lacerations, delayed wound healing or postpartum hemorrhage.
While the low incidence and multiple subtypes of EDS preclude the existence of a large series from which to develop pregnancy management guidelines, we suggest that the obstetric course of women with type III EDS may result in well-tolerated pregnancies, successful vaginal delivery and a favorable outcome for both mother and infant.
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