A 43-year-old female presented to our facility with profuse diarrhoea, shortness of breath, swollen left leg with ulceration and associated weakness with immobility. This was on a background of 20-kg of unintentional weight loss over a 12-month period. The patient was profoundly emaciated (BMI = 14.7 kg/m2), hypotensive (87/60 mmHg) with cool peripheries, had a moderately distended abdomen and a discoloured swollen left leg. Her past medical history was significant for biopsy confirmed celiac disease 3-years earlier.
On admission, the patient had a normal anion-gap metabolic acidosis (pH 7.16, (7.35–7.45)) in the setting of chronic malabsorption with ongoing losses. Profound hypoalbuminemia (< 15 g/L (35–55)) and globalised oedema was noted. Intravenous therapies were used to correct severe electrolyte imbalances including persistent hypokalaemia, hyponatremia, hypomagnesemia and hypophosphatemia. Coagulation profile revealed INR 2.1 (1–2), APTT 45 s (26–39), with thrombocytopenia and anaemia, haemoglobin 78 g/L (120–160). The patient was deficient in iron (Ferritin 19 μg/L (20–200), Transferrin Saturation < 6% (15–45)), Vitamin B12 (164 pmol/L (200–680)), zinc (5 μmol/L (8–18)), copper (5 μmol/L (11–14)) and selenium (0.5 μmol/L (0.7–1.4)). Vitamin B12 and iron deficiencies were treated timely with intramuscular and intravenous replacement, respectively.
Ultrasound of the left leg revealed extensive left lower-limb DVT. CT-PA of the chest revealed bilateral pulmonary embolism, associated pulmonary infarction and two cavitating lung lesions. Provoking factors for her DVT included prolonged pre-hospital immobility and severe hypoalbuminemia. She was subsequently commenced on therapeutic Enoxaparin. Infectious and autoimmune causes including systemic lupus erythematosus, antiphospholipid syndrome, sarcoidosis, tuberculosis, Q-fever, viral hepatitis and human immunodeficiency virus were excluded. Type 1 Diabetes Mellitus was also excluded. A large ulcerative skin lesion developed on the patient’s left dorsum foot. Wound healing was impaired by chronic venous stasis, immunosuppression and peripheral oedema.
The patient developed urosepsis requiring treatment with Piperacillin/Tazobactam, Gentamicin and subsequently Ciprofloxacin. Her blood cultures and urine were positive for Enterobacter cloacae. Intravenous 5% Albumin infusions were given for hypovolemia and hypoalbuminemia.
Given the patient’s profound clinical presentation, the treating clinicians had a strong suspicion for malignancy. A positron emission tomography (PET) scan revealed nil evidence of fludeoxyglucose (FDG) avid malignancy. Subsequent bone marrow and trephine aspirate revealed changes related to copper deficiency and severe iron deficiency (Figs. 1 and 2). Once stable, upper and lower endoscopy was performed to investigate for lymphoma. Histological analysis of gastrointestinal biopsies showed villous atrophy and intraepithelial lymphocytosis consistent with severe active celiac disease in the second part of the duodenum and lymphocytic colitis in the colon (Figs. 3 and 4). Duodenal biopsy Modified Marsh classification was 3c, in keeping with symptomatic celiac disease. Anti-tissue transglutaminase was elevated at 608 units. Helicobacter pylori infection was excluded as a cause for the patient’s presentation, returning a negative urease (Campylobacter-like organism) test.
The patient was treated with high caloric gluten-free nasogastric and oral feeding regimes, these included elemental and semi-elemental feeds. As the patient was not meeting her target daily oral caloric intake, nasogastric feeds were commenced overnight to assist in weight gain in the context of persistent diarrhoea. A gradual resolution of diarrhoea was noted over a one-month period with a strict gluten-free diet and bridging Loperamide. After comprehensive history taking and investigation, it was concluded that the patient’s celiac crisis was likely triggered by poor dietary compliance and consequent severe malnutrition.
Intensive inpatient rehabilitation was commenced for deconditioning and peripheral neuropathy. Weight gain was recorded over time. Subacute left distal radius and ulnar fractures were discovered, likely from a minor fall one-month prior to admission. Due to the patient’s slow progression in rehabilitation and ongoing lower-limb neurological symptoms a magnetic resonance image (MRI) of the spine was performed. Neurologists diagnosed subacute combined degeneration of the spinal cord, due to chronic Vitamin B12 deficiency. Owing to this diagnosis, the patient continued to be wheelchair-bound and was discharged to a supported care facility. In total, the patient spent 30 days as an acute inpatient and 77 days in inpatient rehabilitation. She is still being followed up by our hospital outpatient haematology, gastroenterology, endocrinology and dietetic service.
