Visceral Muscle Dysmotility Syndrome With Esophageal Aperistalsis (VMDS Tetrad): A Rare Initial Manifestation of Systemic Lupus Erythematosus

ABSTRACT

Visceral muscle dysmotility syndrome (VMDS) is a rare manifestation of systemic lupus erythematosus. VMDS with esophageal aperistalsis (VMDS tetrad) as the initial presentation of systemic lupus erythematosus has not been previously reported. We describe a case of 35-year-old woman with recurrent intestinal pseudo-obstruction associated with pyeloureterectasis, nonobstructive biliary dilatation, and esophageal aperistalsis, constituting a VMDS tetrad. The diagnosis was established based on clinical features, radiologic findings, and serologic evaluation. The patient responded promptly to immunosuppressive therapy, with complete clinical and radiologic resolution, highlighting the importance of early recognition and timely treatment.

INTRODUCTION

Intestinal pseudo-obstruction (IPO) is a rare gastrointestinal (GI) disorder characterized by recurrent episodes of bowel obstruction with dilated bowel loops in the absence of a mechanical cause. It results from impaired GI motility because of dysfunction of visceral smooth muscle, enteric nervous system, interstitial cells of Cajal, or a combination thereof.¹ IPO may be idiopathic, or secondary to neurologic, autoimmune, paraneoplastic, metabolic, or infectious conditions.

Systemic lupus erythematosus (SLE) is an uncommon cause of IPO. IPO as the initial presentation of SLE is exceedingly rare. SLE-associated IPO (SLE-IPO) frequently presents with pyeloureterectasis and, less commonly, with nonobstructive biliary dilation. Together, this triad is termed as generalized megaviscera of lupus or visceral muscle dysmotility syndrome (VMDS).² We present the first case of a VMDS tetrad (IPO with pyeloureterectasis, biliary dilatation, and esophageal aperistalsis) presenting as the index manifestation of SLE.

CASE REPORT

A 35-year-old woman presented with 5-day history of colicky periumbilical pain, progressive abdominal distension, bilious vomiting, constipation, and obstipation, along with complaints of urinary urgency, dysuria, and urinary retention. She denied any prior similar complaints before this episode. Abdominal radiography showed multiple dilated bowel loops with air-fluid levels. Laboratory evaluation was notable only for hypoalbuminemia (2.9 g/dL). Contrast-enhanced computed tomography (CECT) demonstrated diffusely dilated and thickened small bowel loops without a transition point, moderate ascites, mesenteric haziness, and bilateral pyeloureterectasis (Figure 1). She was managed conservatively with nasogastric decompression, Foley catheterization, intravenous fluids, and antibiotics. Ascitic fluid analysis revealed low serum–ascites albumin gradient, high protein ascites with normal adenosine deaminase, amylase, and triglyceride levels. Stool examination, thyroid and parathyroid profiles, electrolytes, HbA1c, tumor markers, and immunoglobulin levels were normal. Upper endoscopy, ileocolonoscopy, and cystoscopy were unremarkable; ileal biopsies showed nonspecific inflammation. Urinalysis showed 2+ proteinuria, and 24-hour urine protein was 2.3 g/day. Cultures of blood, urine, and ascitic fluid were sterile. Antinuclear antibody (ANA) by enzyme-linked immunosorbent assay was negative. A positron emission tomography–computed tomography demonstrated diffuse GI uptake. She improved symptomatically and was discharged after 1 month of hospitalization.

Figure 1.

Contrast-enhanced computed tomography of the abdomen showing, diffusely edematous bowel loops (yellow arrows) with moderate ascites (red arrows).

Two months later, she was readmitted with recurrent symptoms. Repeat CECT persistent dilated and thickened small bowel loops, mild ascites, pyeloureterectasis, and common bile duct dilatation (11 mm) (Figure 2). Laboratory studies showed anemia (9.9 gm/dL), leukocytosis (13.21/cumm), hypernatremia (150 mEq/L), hypokalemia (3.22 mEq/L), hypoalbuminemia (2.9 gm/dL), and elevated C-reactive protein (35.5 mg/L). Repeat upper endoscopy, ileocolonoscopy, push enteroscopy, and cystoscopy were normal. Endoscopic ultrasound demonstrated dilated common bile duct without any obstructing lesion. Blood cytomegalovirus polymerase chain reaction for was positive (18,400 copies/mL); however, urine and ascitic fluid cytomegalovirus polymerase chain reaction were negative, and ganciclovir therapy was ineffective. All cultures remained negative. And 24-hour urine protein reduced to 93 mg/day. Gynecological examination and transvaginal ultrasound were normal. Diagnostic laparoscopy revealed normal bowel and mesentery, with nonspecific inflammation on omental biopsy. Gene-Xpert testing for tuberculosis was negative. Autonomic testing and fat pad biopsy were normal, and antiacetylcholine receptor antibodies were negative. High-resolution esophageal manometry demonstrated complete esophageal aperistalsis (Figure 3). Despite supportive care, parenteral nutrition, and prokinetic agents, symptoms persistent with sequential X-rays showing persistent dilated bowel loops. Although the initial autoimmune workup, including ANA by ELISA was negative, repeat ANA by indirect immunofluorescence during the second admission was positive with strong positivity for anti-Smith, anti-Ro, and antihistone antibodies. A diagnosis of SLE was thus established based on the 2019 European Alliance of Associations for Rheumatology/albumin creatinine ratio classification criteria.

Figure 2.

(A) Coronal contrast-enhanced computed tomography image showing prominent small bowel loops with no transition point. Note is made of prominent common bile duct (yellow arrow) measuring 11 mm. (B) Coronal maximum intensity projection reformat image in delayed phase shows hydroureteronephrosis (yellow arrow).

Figure 3.

High-resolution esophageal manometry performed in supine position demonstrating complete aperistalsis. The esophagogastric junction shows normal morphology (Type I) with adequate lower esophageal sphincter relaxation (median integrated relaxation pressure—3.5 mm Hg). There is no pan esophageal pressurization. UES, upper esophageal sphincter; LOS, lower oesophageal sphincter; CDP, contractile deceleration point.

She received methylprednisolone (1 g daily for 3 days), followed by oral prednisolone (1 mg/kg/day). She showed marked clinical improvement and was discharged. At 1-month follow-up, she was asymptomatic with 6-kg weight gain, and CECT showed complete resolution of bowel wall thickening and dilatation (Figure 4). She is currently maintained on hydroxychloroquine and mycophenolate mofetil and remains asymptomatic over 6-month follow-up.

Figure 4.

(A) Follow-up coronal CECT image shows collapsed normal small bowel loops. (B) Axial CECT image showing resolution of hydroureteronephrosis. CECT, contrast-enhanced computed tomography.

DISCUSSION

We describe a patient with recurrent IPO with associated pyeloureterectasis, biliary dilation, and esophageal aperistalsis, who was ultimately diagnosed with SLE and showed a dramatic response to immunosuppression.

Patients with IPO typically present with abdominal pain, distension, vomiting, and altered bowel habits with imaging demonstrating bowel dilatation without mechanical obstruction. Autoimmune disorders, particularly SLE, are recognized causes of IPO.³ SLE-IPO is frequently associated with active systemic disease, including renal involvement, hypoalbuminemia, hematologic abnormalities, polyserositis, and elevated inflammatory markers.⁴ Higher prevalence of anti-Ro and anti-La antibodies has been reported in SLE-IPO compared with SLE alone.³ ANA testing by indirect immunofluorescence assay method is preferred screening modality.

The association of IPO with pyeloureterectasis and biliary dilation was first described by Pardos-Gea et al⁵ and later termed VMDS or generalized megaviscera of lupus.^6,7 The estimated incidence of VMDS in SLE is ∼0.15%.⁸ The pathogenesis likely involves immune-mediated smooth muscle or neuromuscular injury, which may also explain the esophageal aperistalsis observed in our patient, completing the VMDS tetrad.

From a clinical perspective, secondary autoimmune dysmotility should be suspected in patients when IPO is accompanied by multisystem involvement such as unexplained urinary tract dilatation, biliary dilatation, hypoalbuminemia, or serositis. Early recognition, exclusion of mechanical obstruction, and prompt immunosuppressive therapy are critical. Initial management is supportive, while definitive treatment consists of intravenous pulse steroids followed by oral corticosteroids.⁹ If treatment is initiated timely, most patients show good response. Immunomodulators are used for maintenance, and intravenous immunoglobulin may be considered in refractory cases.^10,11 Delayed treatment may result in irreversible smooth muscle fibrosis, chronic IPO, sepsis, or perforation, with reported in-hospital mortality of ∼7%.⁴ As VMDS is a part of spectrum of SLE activity, long-term follow-up and maintenance immunosuppression to prevent recurrence is warranted.

This case highlights VMDS tetrad as a rare initial manifestation of SLE and emphasizes the importance of early diagnosis and immunosuppressive therapy to prevent morbidity and mortality.

DISCLOSURES

Author contributions: Conception and design of the study: Ashish Agarwal, CL Birda. Generation, collection, assembly, analysis, and/or interpretation of data: S. Kashyap, Ashish Agrawal, VC Gogineni, CL Birda, Ankit Agarwal, Ayushi Agarwal. Drafting or revision of the manuscript: Ashish Agarwal, Ayushi Agarwal, S. Kashyap, CL Birda. Critical revision of the article for important intellectual content: Ashish Agarwal, Ayushi Agarwal, CL Birda, Ankit Agarwal. Approval of the final version of the manuscript: all authors. Ashish Agarwal is the article guarantor.

Financial disclosure: None to report.

Informed consent was obtained for this case report.

Authors declare no conflict of interests for this article.

ABBREVIATIONS:

CECT

contrast-enhanced computed tomography

GI

gastrointestinal

IPO

intestinal pseudo-obstruction

SLE

systemic lupus erythematosus

VMDS

visceral muscle dysmotility syndrome