2003 OPEN FORUM Abstracts
EHLER-DANLOS SYNDROME (EDS) PRESENTING AS RESPIRATORY FAILURE.
Jessica L. Dietrich, BS, RRT; Luca M. Bigatello, MD; Dean R. Hess, PhD, RRT,
FAARC. Massachusetts General Hospital and Harvard Medical School, Boston MA.
Introduction: EDS is a group of autosomal dominant connective tissue disorders with an
incidence of 1/150,000. The classic symptoms are joint hypermobility, hyperelasticity of the
skin (soft, thin, and fragile), dystrophic scars, and excessive bleeding manifested by bruises
and hematomas. The basic defect is in the synthesis and/or processing of collagen type I and
III which leads to low tensile strength of the skin and arterial walls. Three mechanisms are
known to occur with EDS: 1) deficiency of the collagen processing enzymes lysylhydroxylase
and procollagen N-peptidase, 2) dominant-negative effects of mutant collagen
alpha-chains, and 3) haploinsufficiency (mutation in a single allele in which one normal allele
is not sufficient for a normal phenotype). The diagnosis is based on clinical findings and
family history, DNA analysis for the specific gene defect, and skin fibroblast culture.
Treatment is supportive and life expectancy is normal in the majority of cases. In an extensive
literature search, we could identify no previously published case of EDS presenting as
respiratory failure.
Case Summary: A 20 yr old female was transferred to our tertiary
hospital with a history of end-stage pulmonary disease. The etiology was felt to be EDS Type
III/IV with widespread bronchiectasis. Prior medical history included asthma at age 8 yrs
(details unclear), a family history of EDS type III/IV in her mother and grandmother, anxiety,
and use of home oxygen and BiPAP. Pulmonary function testing showed both obstructive and
restrictive components. Baseline arterial blood gases revealed a compensated respiratory
acidosis (pH 7.35, PaCO2 90 mm Hg). She was intubated
secondary to acute respiratory failure. Her chest x-ray
showed severe hyperinflation. Mechanical ventilation was
complicated by the presence of high airways resistance,
low respiratory system compliance, and severe auto-PEEP
(often >10 cm H2O). She could not tolerate pressure
support ventilation and multiple attempts to discontinue
ventilatory support failed. Ventilator settings were tidal
volume 250 - 300 mL, rate 20 - 30/min, PEEP 8 - 12 cm
H2O (to counterbalance auto-PEEP), and FIO2 0.4 - 0.5.
Tracheostomy was performed due to her persistent
respiratory failure. Despite her respiratory failure, she was
able to feed herself, ambulate with a portable volume
ventilator, and navigate the Internet. Due to her ventilator
dependence, she was transferred to a rehabilitation hospital, where she is awaiting lung
transplantation.
Discussion: There are several lines of evidence linking EDS with this
patient's pulmonary function: 1) EDS is a connective tissue disorder affecting collagen and
the lungs contain collagen and elastin fibers (collagen represents 15% to 20% of lung dry
weight); 2) Type IV EDS is known to produce a biochemical defect of collagen type III, and
collagen types I and III are major types of collagen within the matrix of the alveolar septa,
airways, and blood vessels. To our knowledge, this is the first reported case of EDS
presenting as end-stage respiratory failure.