December 2025

RHEUMATOLOGY

CASE REPORT: THE WEIGHT OF WHAT WENT MISSING

Patient profile
A 70-year-old woman with a history of systemic lupus erythematosus (SLE), deep vein thrombosis and pulmonary embolism and asthma presented to the Northwestern Medicine Emergency Department with 3 weeks of worsening abdominal distention, new lower extremity edema, a 10-pound weight gain and fatigue.
 
Clinical history
18 months prior
  • Admitted with profound facial edema and anasarca
  • Lab results: low albumin, proteinuria, +ANA, +dsDNA, +RNP, +Smith, low C3/C4
  • Imaging: bilateral pleural effusions, abdominal ascites
  • TTE normal
  • Underwent diuresis with improvement
  • Diagnosed with SLE
  • Treatment: Started hydroxychloroquine.

17 months prior
  • Readmitted with anasarca
  • Pleural fluid: exudative, no empyema
  • EGD: inactive gastritis, chronic duodenitis
  • Treatment: Steroids, mycophenolate mofetil, IV diuretics

6 to 12 months prior
  • Multiple admissions for hypoalbuminemia and anasarca
  • PET scan negative
  • Renal biopsy: no lupus nephritis or membranous process
  • Colonic biopsy with mycophenolate mofetil colitis
  • Treatment: Increased steroids, stopped mycophenolate mofetil, started azathioprine and monthly IV immunoglobin

3 to 4 months prior
  • Outpatient follow-up: Noted initially improved abdominal swelling, lower extremity edema after immunosuppressive regimen, but symptoms worsened after complex outside-hospital admission for infection.

Vital signs and physical examination
Vital signs: Afebrile, BP/HR normal, SpO₂ 95% on 2 L via nasal cannula

​Physical exam findings
  • General: Alert, oriented, no acute distress
  • Cardiac: Regular rate and rhythm, no murmurs, rubs or gallops
  • Pulmonary: Bibasilar crackles, increased work of breathing
  • Abdomen: Soft, non-tender, markedly distended with positive fluid shift
  • Extremities: Warm, 3+ bilateral lower extremity pitting edema
  • Skin: No rashes, chronic venous stasis ulcers present
  • Musculoskeletal: No joint swelling, strength 5/5 diffusely
Workup
CBC: Normal.
CMP:
  • Total protein, 4.7 g/dL
  • Albumin, 1.6 g/dL
  • AST, 14 units/L; ALT, 5 units/L
SLE lab results:
  • dsDNA 1
  • C3, 94 mg/dL; C4, 24 mg/dL
Urine: UA bland; UPCR, 0.41 mg/mg
Infectious studies: Negative.
Ascitic fluid: Transudative, cytology WNL.
TTE: Grade 1 diastolic dysfunction.
EGD: Nonspecific chronic duodenitis, biopsies negative for H. pylori and Congo red staining (amyloidosis).
Prior CT enterography: No small bowel thickening/enhancement.
24-hour fecal alpha-1 antitrypsin: Significantly elevated at 1685 mg/dL (normal <55 mg/dL).
CT chest, abdomen, and pelvis with contrast: Bilateral loculated pleural effusion, moderate to large volume ascites, significant body wall edema.
Management and clinical response
Previously, the patient received:
  • Methylprednisolone, 4 mg twice daily
  • Hydroxychloroquine, 200 mg twice daily
  • Azathioprine, 100 mg daily
  • Monthly IV immunoglobulin, 2 g/kg
 
After a history of mycophenolate mofetil colitis, mycophenolate mofetil was stopped.
Started receiving:
  • IV solumedrol, 40 mg daily with subsequent steroid taper
  • Induction with rituximab, 1 gram x 2 doses 14 days apart.

Continued receiving:
  • Hydroxychloroquine, 200 mg twice daily
  • Azathioprine, 100 mg daily
  • IV immunoglobulin, 2 g/kg
 
Received IV diuresis.
Profound anasarca and hypoalbuminemia in the absence of nephrotic-range proteinuria, impaired protein synthesis due to liver disease, or malnutrition with elevated fecal alpha-1-antitrypsin, raised concern for GI protein loss. 

Discussion: where did the protein go?
The patient’s “weight” (recurrent anasarca) and “what went missing” (protein) overall responded very well to increased immunosuppression, ultimately leading to a diagnosis of SLE-related protein-losing enteropathy in the setting of chronic serositis.

Diagnosis can be established by increased fecal alpha-1-antitrypsin clearance (>2.6 mg/g stool) and should be accompanied by enteral biopsies showing absence of infiltrative diseases (amyloid, sarcoid, etc.). SLE-related protein-losing enteropathy typically responds well to combination therapy with a protein-rich diet plus an immunosuppressive regimen for SLE. Literature reports efficacy from steroids, azathioprine, belimumab and B-cell depleting therapies.
​
Consider this in female patients with anasarca and low albumin without the following:
  • Nephrotic-range proteinuria
  • Impaired protein synthesis due to liver disease
  • Decreased protein intake (malnutrition) 
Irene Blanco, MD, Professor of Rheumatology at Northwestern Medicine ​
Anu Pandit, MD, Rheumatology Fellow at Northwestern Medicine ​

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