Saba Ziaee*, Charles Maxwell Weddington and Carmelita Colbert
Department of Rheumatology, Loyola University Medical Center, Maywood, IL, USA
*Corresponding author: Saba Ziaee, MD, Department of Rheumatology, Loyola University Medical Center, 2160 S 1st Avenue, Building 54, Maywood, IL 60153, USA, Tel: 708-216-5770, Fax: 708-216-1085, E-mail: saba.ziaee@lumc.edu
Ziaee et al., CasesMed Res J 2018, Volume 1 Issue 1
Citation: Ziaee S, Weddington CM, Colbert C (2018) Spontaneous Pneumomediastinum, Retroperitoneal Air, and Subcutaneous Emphysema in Patient with Connective Tissue Disease Associated Interstitial Lung Disease. CasesMed Res J 1(1): 1-4.
Copyright: © 2018 Ziaee S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Received: June 25, 2018 | Accepted: November 14, 2018 | Published Online: November 16, 2018
Abstract
Spontaneous pneumomediastinum (SPM) and subcutaneous emphysema are rare complications of various autoimmune
conditions, most commonly seen in inflammatory myositis. We report the first case of SPM, subcutaneous emphysema and air in the
retroperitoneum and bladder wall in a patient with interstitial lung disease with an overlap of inflammatory myositis and Sjogren's
syndrome.
The patient is a 64-year-old Polish female with a recent diagnosis of interstitial lung disease as an incidental finding on imaging,
initially thought to be due to dermatomyositis (DM) or Sjogren's disease due to a positive anti-Jo antibody and SSA antibody at an
outside hospital. Six months after initial diagnosis, the patient was somnolent and lethargic at home and was found to have extensive
subcutaneous emphysema, air in the bladder wall, and pneumomediastinum based on chest x-ray and CT scan findings. The patient
was treated with broad spectrum antibiotics for initial concern for infection, but no source was identified. Repeat serologies at our
hospital revealed a negative myositis panel including Melanoma Differentiation-Associated protein 5 (MDA5) antibodies and anti-Jo
antibodies, but persistently elevated SSA antibodies.
Keywords: Pneumomediastinum, Subcutaneous emphysema, Interstitial lung disease, Sjogren's syndrome, Dermatomyositis
Introduction
Interstitial lung disease (ILD) is a commonly
recognized complication of various connective tissue
diseases, including inflammatory myopathies, Sjogren's
disease, and scleroderma. Occasionally, ILD progresses
rapidly and can subsequently lead to subcutaneous
emphysema, pneumothorax, and pneumomediastinum
[1]. These rare but serious complications are under-
recognized in both internal medicine and rheumatology.
Pneumomediastinum occurs either as a primary
or secondary event. Primary, or spontaneous
pneumomediastinum is thought to occur in the setting
of increased intrathoracic pressure, causing alveolar
rupture and air leakage. The more commonly seen
secondary pneumomediastinum occurs as sequela of
blunt or penetrating trauma, recent interventions to the
esophagus or tracheobronchial tree, tissue dissection,
rupture of a hollow viscus, or by gas forming organisms
infecting the lungs or mediastinum [2].
The purpose of this report is to recognize spontaneous
pneumomediastinum as a catastrophic complication of
connective tissue disease, and to elucidate the clinical
findings, laboratory findings, and risk factors for the
development of SPM and subcutaneous emphysema. To
our knowledge, there are no previously documented cases
of SPM with involvement of other visceral structures, or
with such broad antibody positivity [2].
Case Report
A 64-year-old female with a recent diagnosis of
autoimmune interstitial lung disease was admitted
for somnolence, lethargy, weakness, confusion,
hallucinations, and new rash. On admission, a chest x-ray
and subsequent computerized tomography (CT) scan
revealed extensive subcutaneous emphysema in the neck,
groin, and buttocks, pneumomediastinum, and air in the
bladder wall and retroperitoneum. Burn, dermatology,
and infectious disease teams were consulted. The patient
was started on broad spectrum antibiotics (vancomycin/
piperacillin-tazobactam/clindamycin).
Examination was notable for somnolence,
waxing/waning confusion, and a rash suspicious for
leukocytoclastic vasculitis on the forearms and lower
extremities. Strength was intact. Labs were significant for
hyponatremia, elevated creatinine with nephrotic range
proteinuria (3 gm), hyponatremia, elevated erythrocyte
sedimentation rate (ESR 114 mm) and C-reactive protein
(CRP 34.2 mg/dl), elevated aldolase (15.5 U/L), and
positive SSA. Serum immunofluorescence was abnormal
and immunofixation showed a restricted band of IgG
kappa monoclonal protein. Creatinine kinase (CK),
antinuclear antibody (ANA), anti-neutrophil cytoplasmic
antibody (ANCA), myositis panel, MDA-5, rheumatoid
factor (RF), and blood cultures were negative during
this hospitalization. Urine cultured from admission grew
colonies of E. coli. Non-contrast CT scan showed extensive
subcutaneous emphysema in the neck, anterior abdominal
and pelvic walls, pneumomediastinum, retroperitoneal
air in the region of the iliopsoas muscle, air in the urinary
bladder and in the bladder wall. Extensive lung disease
was evident on CT, with lower lobe predominant chronic
interstitial infiltration and mild bronchiectasis. Two
separate punch biopsies of the rash showed minimal
perivascular inflammation and hemorrhagic crust not
thought to be consistent with vasculitis. Hospital course
had several major complications including diverticular
perforation and later Cytomegalovirus (CMV) re-
activation with a CMV titer of 15829 IU/ml (Figure 1,
Figure 2 and Figure 3).
Historical review determined the patient was first
diagnosed with pulmonary fibrosis at an outside hospital
as an incidental finding on CT scan six months prior.
Autoimmune workup revealed a positive anti-Jo antibody,
SSA antibody, MPO antibody, slightly positive RF, and
patient was being treated by the pulmonologist as an
anti-synthetase syndrome. Prior pulmonary function
testing showed an FEV1 2.0 L, TLC 75% predicted, DLCO
53%. Prior documentation revealed no evidence of
weakness or muscle disease and patient was started on
azathioprine 50 mg daily and prednisone 40 mg daily with a taper for presumed non-specific interstitial pneumonia
(NSIP) from inflammatory myopathy or Sjogren's disease.
During hospitalization, the patient endorsed dry eyes and
dry mouth, but denied rashes, fevers, chills, arthralgias,
oral/nasal ulcerations, abdominal pain, Raynaud's,
miscarriages, clots, or shortness of breath.
Discussion
Spontaneous pneumomediastinum and subcutaneous
edema are rare and the differential diagnosis is narrow.
It was first described in 1939 by Louis Hamman.
Pneumomediastinum has been described more
commonly and is usually secondary to either traumatic
or iatrogenic cause. SPM can be a result of interstitial lung
disease, asthma, chronic obstructive pulmonary disease
(COPD), or tobacco use [3]. Patient was noted to have
an E. coli urinary tract infection (UTI) which has been
largely implicated in causing emphysematous cystitis and
intraluminal gas in the bladder, however the localized
infection would not explain the extensive involvement.
Risk factors for our patient included a long-standing
prior history of smoking and corticosteroid use.
Within the context of connective tissue diseases, SPM
has been most commonly reported in dermatomyositis,
followed by polymyositis, and sclerodermatomyositis.
The prevalence of SPM in myositis is reported at 2.2% to
8.6% [4-9]. Furthermore, it is more commonly present
in amyopathic dermatomyositis. Normal CKs and
occurrence of SPM in patients with DM portends a poor
prognosis. Our patient was initially diagnosed and treated
as an ILD secondary to dermatomyositis/antisynthetase
syndrome due to an initially positive anti-Jo antibody at
an outside hospital. She had no other features of DM such
as proximal muscle weakness or typical skin findings of
Gottron's papules, shawl sign, or heliotrope rash. While
her myositis panel and MDA5 antibodies were negative on
repeat testing at our hospital and she had no cutaneous
or myopathic findings consistent with DM, we would
still favor the diagnosis of amyopathic dermatomyositis
with a potential overlap with Sjogren's syndrome in the
light of her antibody spectrum. The anti-Jo level has been
reported to correlate with disease activity and given
our patient had been on high doses of prednisone for
an extended period of time, it is plausible that the anti-
Jo was negative on repeat testing due to treatment. The
enzyme-linked immunosorbent assay (ELISA), counter
immunoelectrophoresis (CIE) and immunoblotting tests
used for anti-Jo-1 testing are highly sensitive and specific
which supports a low likelihood of a false positive result
[10].
To date, there have been no clinical cases of bladder and
retroperitoneal free air associated with dermatomyositis
or autoimmune disease. The pathogenesis of SPM is thought to be related to increased intrathoracic pressure
leading to an increased alveolar pressure and therefore
pressure gradient, subsequently causing alveolar rupture
into the interstitium and bronchovascular tissue, and
therefore causing pneumomediastinum. Architectural
distortion of the lung tissue secondary to ILD leads to
rupture of the subpleural blebs especially in the setting
of corticosteroid use that leads to weakening of the lung
tissue. Vasculopathic lesions can also cause injury of the
alveolar wall and lead to air leakage. Risk factors for SPM
include ILD, younger age, a cutaneous vasculopathy, lack
of CK elevation, history of smoking, and corticosteroid
treatment. In this case, the patient had air in the bladder
wall as well as in the retroperitoneum, which would be
best explained by vasculopathic lesions leading to injury
of the bladder wall or an infectious etiology.
Key Points
● Spontaneous pneumomediastinum, subcutaneous
emphysema, and pneumoperitoneum are
associated with autoimmune conditions,
particularly inflammatory myositis and therefore
autoimmune workup should be considered in
patients with these findings.
● Development of spontaneous pneumomediastinum
in a patient with known autoimmune disease
portends a poor prognosis, particularly in those
patients without CK elevation.
Conflict of Interests
No conflict of interests to disclose.
Statement of Authorship
This is an original manuscript that has not been submitted or published previously.
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