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Bullous lungs: diverse aetiology

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Q1: There was extensive cystic bullous involvement of lungs in both the cases, what could be the possible diagnosis?

In the first case a diagnosis of cutis laxa—that is, Ehlers-Danlos syndrome—was made in view of elastic skin, past history of being operated for bilateral inguinal hernia, aphakic eyes, and presence of mitral valve prolapse. In the second case the diagnosis of Marfan’s syndrome was made in view of cardiac and skeletal abnormalities.

Discussion

The differential diagnoses of cystic bullous disease of the lungs to be considered are1:

  • α1-Antitrypsin deficiency.

  • α1-Antichymotrypsin deficiency.

  • Cutis laxa syndromes.

  • Sallas disease.

Other acquired causes are:

  • Inorganic dust exposure and cadmium exposure.

  • Injected dissolved methyl phenidate tablets.

  • Idiopathic non-arteriosclerosis cerebral calcification syndrome.

Ehlers-Danlos syndrome is a hereditary disease of connective tissue and sufferers were classically known as “India rubber men”. In this syndrome there are nine subtypes, type-1–9 varying in severity from the severe form with bilateral joint hypermobility and velvety hyperextensible skin to milder forms. Other associated abnormalities are inguinal and diaphragmatic hernias, ectasia of portions of the alimentary tract, large arterial rupture, varicose veins, mitral valve prolapse and various eye changes.2 Thoracic abnormalities reported in Ehlers-Danlos syndrome include recurrent sinusitis and pneumonia, unexplained haemoptysis, panacinar emphysema with bullae, tracheobronchomegaly and recurrent pneumothorax, pectus excavatum, straight back syndrome, and raised gas transfer factor on lung function testing.3

Learning points

  • Ehlers-Danlos and Marfan’s syndromes should be suspected in patients with excessive skin and joint hyperextensibility.

  • Connective tissue disorders may be present for many years before lung manifestation may occur.

  • Thoracic abnormalities in Ehlers-Danlos syndrome include recurrent sinusitis and pneumonia panacinar emphysema with bullae, tracheobronchomegaly and recurrent pneumothorax, pectus excavatum, straight back syndrome.

  • Marfan’s syndrome should be considered in the differential diagnosis of upper lobe fibrosis.

The diagnosis of Marfan’s syndrome is made by the presence of two major criteria, each from different body system, and involvement of at least one other system. The major criteria are ectopia lentis, aortic dilatation/dissection, dural ectasia,4 presence of four out of eight skeletal manifestation, and a positive family/genetic history. Minor criteria include joint hypermobility, high arched palate, scoliosis, and pectus deformity.

Pulmonary manifestations are observed in 10% of cases of Marfan’s syndrome which are generalised honey combing, spontaneous recurrent pneumothorax, bronchiectasis, bullae, upper lobe fibrosis, ciliary dyskinesis, deformities of the thoracic cage, tracheal weakness, decreased total lung capacity, decreased vital capacity, decreased diffusion lung capacity for carbon monoxide, decreased elastic lung recoil, and obstructive sleep apnoea syndrome.5–7 Our patient was being wrongly treated with antituberculosis treatment in the past for upper lobe fibrosis.

In conclusion, in patients with bullous lung disease a systemic aetiology should always be ruled out.

Final diagnosis

Case 1: Ehlers-Danlos syndrome; case 2: Marfan’s syndrome.

References

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