Abstract
Background
Coeliac crisis is a life-threatening presentation of coeliac disease. Severe diarrhoea, weight loss, electrolyte imbalances and malnutrition are prominent features. Although mainly a disease of childhood, it can on the rare occasion be diagnosed in adults.
Case presentation
A 25-year-old female with severe generalised oedema, lower extremity weakness, hypokalemia and profound hypoalbuminemia was referred with an initial diagnosis of nephrotic syndrome. Three months previously she had given birth to a healthy child following an uneventful pregnancy. She did not have proteinuria. She had a history of diarrhoea with gluten-containing food since childhood but lacked a formal diagnosis of coeliac disease. A duodenal biopsy confirmed the suspected diagnosis. Coeliac crisis was diagnosed with life-threatening multisystem involvement. Introduction of a gluten-free diet abolished all disease symptoms and ameliorated laboratory parameters at six months’ follow-up.
Conclusion
Coeliac crisis is a rare, yet dangerous presentation of coeliac disease in adults. As this case suggests, it can present with generalised oedema and hypoalbuminemia mimicking nephrotic syndrome. Rapid diagnosis is the key to successful treatment.
Introduction
Coeliac crisis (CC) is a life-threatening presentation of coeliac disease (CD). Severe diarrhoea, weight loss, electrolyte imbalances and malnutrition are prominent features. 1 Median age at diagnosis is five years. 2 CC is rare in adults and most of the adult patients with CC lack a prior diagnosis of CD. 3 Unless treated, mortality approaches 10% in children.2,3 Death in adults has also been reported. 4 Diagnosis of CC is vital since the rapid introduction of gluten-free diet and immunosuppressive treatment in select cases are essential to reduce mortality.
The patient we are presenting is a post-partum female with generalised oedema resembling nephrotic syndrome.
Case presentation
A 25-year-old female developed generalised oedema and weakness in lower extremities following an uneventful first pregnancy. She denied any history of hypertension or previous oedema and had delivered a healthy baby girl at the 38th week of gestation. Her symptoms had started the week after the birth and included loss of appetite and weight, vomiting after meals and severe watery diarrhoea five to six times a day. She also had difficulty walking which gradually worsened, making her unable to walk at three months post-partum. She was referred to our nephrology department with an initial diagnosis of nephrotic syndrome, given the hypoalbuminemia and hypokalemia. She gave a history of diarrhoea after taking gluten-containing foods since childhood but lacked a formal diagnosis of CD. She had developed a habit of refraining from such food for some years. She admitted abandoning that practice in late pregnancy with the fear of being unable to breastfeed the baby. On physical examination, she was cachectic, had profound sarcopaenia, anasarca (bilateral pleural effusion, ascites and pretibial oedema) and hypotension. Her blood pressure was 70/40 mmHg. Neurological examination revealed a motor deficit of 4/5 in upper and 2/5 in lower extremities (Medical Research Council grade). Her laboratory results were – serum albumin:12 g/L, total protein: 42 g/L, blood urea nitrogen: 1.79 mmol/L (3.57–7.14) creatinine: 46.6 µmol/L (53–106), Ca: 1.65 mmol/L (corrected 2.2), phosphorus: 0.58 mmol/L (0.74–1.52), Na: 135 mmol/L (135–145), K: 3.08 mmol/L (3.5–5), aspartate aminotransferase (AST): 328 U/L (0–35), alanine transaminase (ALT): 245 U/L (0–35), alkaline phosphatase (ALP): 349 U/L (30–120), gamma glutamyl transferase (GGT): 75 U/L (0–38). There were no erythrocytes or leucocytes in her urinary analysis. She had 137 mg/day of proteinuria (normal <200 mg/day).
Patient’s coeliac autoantibodies.
Patient laboratory result at presentation and during follow-up.
ALT: alanine transaminase; AST: aspartate aminotransferase; ALP: alkaline phosphatase; BUN: blood urea nitrogen; GGT: gamma glutamyl transferase; N/A: not available.
Discussion
CD is a T cell-mediated autoimmune enteropathy. 4 Duodenum biopsy reveals lymphocytic infiltration, villous atrophy and crypt hyperplasia. Secondary malabsorption due to duodenal inflammation and villous atrophy cause diarrhoea and weight loss. It is mainly a disease of childhood, but cases diagnosed in adulthood are occasionally reported. 4 Abdominal pain, bloating and diarrhoea may or may not be present. CD follows a more insidious and asymptomatic course in adults. Since it is a systemic autoimmune disorder, it can also affect other systems such as skin (dermatitis herpetiformis), kidney (mesangial IgA deposition or frank IgA nephritis), liver (autoimmune hepatitis) and central nervous system (autoimmune encephalitis).5–8 CC is a fulminant form of the disease associated with acute kidney injury and electrolyte imbalances. Hypo/hypernatraemia, hypokalaemia, hypocalcaemia, hypophosphataemia and metabolic acidosis are common presenting anomalies. 1 Hyponatraemia is usually of hypovolemic/hypotonic type associated with reduced food intake and sodium loss with diarrhoea. Nevertheless, when the dehydration is severe enough hypernatraemia may also develop. Patients generally need admission. Intravenous supportive treatment, gluten-free diet and corticosteroids are the cornerstones of therapy. For resistant cases, infliximab, cladribine, mercaptopurine have been used with varying success. 2
Jamma et al. reported 12 cases of adult CC with a median age of 55. 3 Eleven of these (92%) did not have a prior diagnosis of CD. Each case had a precipitating factor; infections and surgery were the main culprits. There was also one post-partum case. Unlike our patient, all cases had acute kidney failure of different degrees. Four of the cases (33%) resolved with gluten-free diet and supportive treatment alone, which implies the importance of nutrition in treatment. This report was a foundation for us to withhold corticosteroids.
Inflammatory hepatic involvement is not unexpected in the course of CD and is more common in newly diagnosed cases. Some of these patients respond to a gluten-free diet. However, cases requiring immunosuppressive treatment have also been reported. 8
Our patient’s weakness is a striking example of the hypokalemic paralysis previously published with some of CC cases.2,9,10 In all these reports, replacement of potassium and initiation of gluten-free diet resulted in complete resolution of paralysis. We observed the same response in our patient.
Our case lacked proteinuria, the hallmark of nephrotic syndrome; therefore, excluding a renal source of protein loss was not challenging. It is likely that the patient’s self-discovered eating habits had alleviated her gastrointestinal symptoms over the years. We believe the change in her diet resulted in acute, severe exacerbation of her CD, hence CC. Resorting to Occam’s razor, we attributed all mentioned findings to CC and provided her with treatment which proved successful.
Conclusion
Our patient is a unique example of CC since she presented with a nephrotic syndrome-like clinical picture without proteinuria. We observed a dramatic response to a gluten-free diet. It should be kept in mind that CD can be diagnosed at any age and may present with CC in adults. Rapid diagnosis is the key to successful treatment.
Footnotes
Declaration of Conflicting Interests
The author(s) declared no potential conflicts of interest concerning the research, authorship, and/or publication of this article.
Funding
The author(s) received no financial support for the research, authorship, and/or publication of this article.