Practice A Patient’s Journey

Common variable immunodeficiency

BMJ 2008; 337 doi: http://dx.doi.org/10.1136/bmj.a1855 (Published 17 October 2008) Cite this as: BMJ 2008;337:a1855
  1. Abigail Reynolds, patient
  • Accepted 25 June 2008

After 14 months of severe illness, this patient was diagnosed with common variable immunodeficiency

I am 36 years old and before I became ill in 2006, I was a self employed researcher and event organiser. I am married to Jonathan and we have one son and one adopted daughter. In June 2007, I received a diagnosis of common variable immunodeficiency, or hypogammaglobulinaemia. The diagnosis came after more than a year of constant diarrhoea, incontinence, vomiting, nausea, dizzy spells, extreme lethargy, sores in my mouth, burning sensation in my throat, stomach cramps, severe night sweats (changing the bed linen up to five times a night), and amenorrhoea. During this year I saw three NHS general practitioners, two NHS gastroenterologists, and a private allergy and immunology specialist. I had numerous blood and stool sample tests, a colonoscopy, and an endoscopy. By the time of my diagnosis, 14 months after first becoming ill, I had lost 12.7 kg (2 stone) and weighed just 40 kg.

Route to diagnosis

In March 2006, after three weeks in Australia, I returned home via Hong Kong. Within three days of my return, I developed severe diarrhoea (up to 20 times a day and night). Blood and stool tests showed nothing abnormal, but the diarrhoea and nausea continued and I steadily lost weight. In July 2006 my periods stopped.

In September that year my general practitioner referred me to a gastroenterologist for further tests. I saw the first gastroenterologist in December 2006, by which time my weight had fallen to 41 kg and everything I ate aggravated my stomach. An endoscopy in January 2007 showed an “increase in acute and chronic inflammatory cells thought to be non-specific duodenitis.” The gastroenterologist said I probably had irritable bowel syndrome and did not offer further treatment. I requested a colonoscopy and a second opinion …

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