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Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins.

Ruggeri P, Calcaterra S, Girbino G - Respir Med Case Rep (2014)

Bottom Line: Ehlers-Danlos syndrome, characterized by hyperextensible skin, hypermobile joints, and fragile vessels, is the most common heritable disorder of connective tissue and has an estimated prevalence of 1 in 5000.Pulmonary involvement with signs of lung destruction (bullous emphysema) as first presentation is unusual.We report a case of monozygotic twins 37 years old men with occasional evidence of bullous emphysema with previously undiagnosed Ehlers-Danlos syndrome type IV.

View Article: PubMed Central - PubMed

Affiliation: Department of Experimental Medicine and Surgery with Odontostomatology, Respiratory Unit, Policlinico Universitario "G.Martino", Messina, Italy.

ABSTRACT
Ehlers-Danlos syndrome, characterized by hyperextensible skin, hypermobile joints, and fragile vessels, is the most common heritable disorder of connective tissue and has an estimated prevalence of 1 in 5000. Pulmonary involvement with signs of lung destruction (bullous emphysema) as first presentation is unusual. We report a case of monozygotic twins 37 years old men with occasional evidence of bullous emphysema with previously undiagnosed Ehlers-Danlos syndrome type IV. We emphasize the importance of considering uncommon genetic causes of emphysema in young adults, discuss underlining pathophysiological mechanisms and propose a conservative management and follow-up.

No MeSH data available.


Related in: MedlinePlus

Slightly hyperextensive of small joints of extremities.
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fig2: Slightly hyperextensive of small joints of extremities.

Mentions: A 37 year man presented to the emergency department for a first episode of hemoptysis accompanied by stabbing right hemithoracic pain. He was a current heavy smoker (29 pack years) and he was working in a fiberglass boats factory. Medical history was negative for preceding pulmonary diseases and positive for capillary fragility with bruising and propensity to develop ecchymosis. Chest x-ray revealed a large distended cystic bullae in the upper right lobe with compression of remaining pulmonary parenchyma. Chest CT show multiple emphysematous bullae in the middle and upper lobe of right lung. In the upper and lingular lobe of left lung paraseptal and panlobular emphysema was also evident (Fig. 1). Patient was transferred to Pulmonary Unit in a stable clinical condition. Arterial gas-analysis was normal during spontaneous breathing and serum blood analysis revealed only mild elevation of CRP, VES and fibrinogen. No abnormality was present in the hemostasis screening test. Bronchoscopy showed blood coming from upper right lobe. Pulmonary function test demonstrated normal lung volumes with moderate reduction of carbon monoxide diffusing capacity (3, 25 ml/min/mmHg/L, 54% pred.) (Table 1). A significant difference between slow and forced vital capacity (6.24 L vs 4.84 L) was evident. Deeping into patient familiar medical history we discovered that patient had a twin homozygous brother current asymptomatic heavy smoker with bullous emphysema occasionally diagnosed by screening chest x-ray. Alpha-1 antitrypsin was in the normal range in both brothers. Skin was found to be thin and translucent with slightly hyperextensive of small joints of extremities (Fig. 2). An EDS was so suspected. Characteristic facial appearance was not so evident. Molecular gene testing was done to confirm the diagnosis in twins. Genomic DNA was extracted from peripheral blood leukocytes. Sequencing analysis of the patient's DNA revealed a novel missense mutation (c.2996G[A]; Gly999Asp) in exon 41 of the COL3A1 gene characteristic of EDS type IV. Echocardiography revealed no significant alterations in twins. Natural course of disease in the hospitalized twin was benign and hemoptysis with thoracic pain disappeared after two days after hospital admission. Twins were advised to stop smoking and has been followed for pulmonary and vascular emergencies. After three months twins are in a stable clinical condition.


Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins.

Ruggeri P, Calcaterra S, Girbino G - Respir Med Case Rep (2014)

Slightly hyperextensive of small joints of extremities.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4356030&req=5

fig2: Slightly hyperextensive of small joints of extremities.
Mentions: A 37 year man presented to the emergency department for a first episode of hemoptysis accompanied by stabbing right hemithoracic pain. He was a current heavy smoker (29 pack years) and he was working in a fiberglass boats factory. Medical history was negative for preceding pulmonary diseases and positive for capillary fragility with bruising and propensity to develop ecchymosis. Chest x-ray revealed a large distended cystic bullae in the upper right lobe with compression of remaining pulmonary parenchyma. Chest CT show multiple emphysematous bullae in the middle and upper lobe of right lung. In the upper and lingular lobe of left lung paraseptal and panlobular emphysema was also evident (Fig. 1). Patient was transferred to Pulmonary Unit in a stable clinical condition. Arterial gas-analysis was normal during spontaneous breathing and serum blood analysis revealed only mild elevation of CRP, VES and fibrinogen. No abnormality was present in the hemostasis screening test. Bronchoscopy showed blood coming from upper right lobe. Pulmonary function test demonstrated normal lung volumes with moderate reduction of carbon monoxide diffusing capacity (3, 25 ml/min/mmHg/L, 54% pred.) (Table 1). A significant difference between slow and forced vital capacity (6.24 L vs 4.84 L) was evident. Deeping into patient familiar medical history we discovered that patient had a twin homozygous brother current asymptomatic heavy smoker with bullous emphysema occasionally diagnosed by screening chest x-ray. Alpha-1 antitrypsin was in the normal range in both brothers. Skin was found to be thin and translucent with slightly hyperextensive of small joints of extremities (Fig. 2). An EDS was so suspected. Characteristic facial appearance was not so evident. Molecular gene testing was done to confirm the diagnosis in twins. Genomic DNA was extracted from peripheral blood leukocytes. Sequencing analysis of the patient's DNA revealed a novel missense mutation (c.2996G[A]; Gly999Asp) in exon 41 of the COL3A1 gene characteristic of EDS type IV. Echocardiography revealed no significant alterations in twins. Natural course of disease in the hospitalized twin was benign and hemoptysis with thoracic pain disappeared after two days after hospital admission. Twins were advised to stop smoking and has been followed for pulmonary and vascular emergencies. After three months twins are in a stable clinical condition.

Bottom Line: Ehlers-Danlos syndrome, characterized by hyperextensible skin, hypermobile joints, and fragile vessels, is the most common heritable disorder of connective tissue and has an estimated prevalence of 1 in 5000.Pulmonary involvement with signs of lung destruction (bullous emphysema) as first presentation is unusual.We report a case of monozygotic twins 37 years old men with occasional evidence of bullous emphysema with previously undiagnosed Ehlers-Danlos syndrome type IV.

View Article: PubMed Central - PubMed

Affiliation: Department of Experimental Medicine and Surgery with Odontostomatology, Respiratory Unit, Policlinico Universitario "G.Martino", Messina, Italy.

ABSTRACT
Ehlers-Danlos syndrome, characterized by hyperextensible skin, hypermobile joints, and fragile vessels, is the most common heritable disorder of connective tissue and has an estimated prevalence of 1 in 5000. Pulmonary involvement with signs of lung destruction (bullous emphysema) as first presentation is unusual. We report a case of monozygotic twins 37 years old men with occasional evidence of bullous emphysema with previously undiagnosed Ehlers-Danlos syndrome type IV. We emphasize the importance of considering uncommon genetic causes of emphysema in young adults, discuss underlining pathophysiological mechanisms and propose a conservative management and follow-up.

No MeSH data available.


Related in: MedlinePlus