Practice this case based on how you are assessed in your OSCEs, and use the relevant sections for general revision. 🤓
Doctor Instruction:
You are a Foundation Year 2 Doctor working in General Practice. Your next patient is Sally O'Reilly, a 35-year-old female who always feels tired. Please take a history and perform a relevant examination.
Patient History:
Sally O’Reilly, 35y/o F, shop assistant.
Lately, you've been feeling tired throughout the day on most days. Life has been difficult for you since this all started 4 months ago. You complain that although you have the motivation to go out and do things – you still look forward to the weekends when you have the time to do gardening; after all – you just don't have the energy to make things happen. You've tried sleeping more to replenish your energy, but you've found that it hasn't made much of a difference.
Over the last year, you have noticed that you've been prone to short bouts of loose stools but have never noticed any blood mixed in. You remark that it's strange how your stools seem to float on the water. You've noticed an itchy, red rash over both your elbows and knees that appeared a week ago. You have also noticed that you get bloated after meals (particularly those heavy on bread and pasta), making you aware of some mild abdominal discomfort.
You have not noticed any significant weight loss. You have not gone through menopause.
Ideas, Concerns, Expectations:
Before you were diagnosed and treated for hypothyroidism, you had a similar experience of long-lasting fatigue, so you wondered if your recent symptoms could represent a recurrence of your thyroid disease.
Past Medical History:
Confirmed past Hashimoto’s thyroiditis, well-controlled.
Past appendicectomy.
Drug History:
Levothyroxine – good compliance.
No recent antibiotic use.
No known drug allergies.
Family History:
No history of cancer or abdominal problems.
Social History:
Do not smoke, drink or do recreational drugs.
Work as a shop assistant.
Examination Findings:
Redness at both angles of the mouth.
Pale conjunctiva.
2 ulcers on the insides of the mouth.
A red, vesicular rash over both elbows and knees
No abdominal tenderness or masses on palpation
No jaundice
And no other significant abnormalities.
Differentials:
Coeliac disease
Irritable bowel syndrome
Hypothyroidism
This history and the associated examination are suggestive of coeliac disease. The vesicular rash, in this case, is dermatitis herpetiformis, a skin disease strongly related to coeliac disease. The patient's background of autoimmune thyroid disease puts her at risk of developing other autoimmune diseases like coeliac disease. It is important to remember that coeliac disease can present for the first time at any age.
The tiredness and exertional dyspnoea with the associated pale conjunctiva and angular stomatitis found on examination suggest a component of iron-deficiency anaemia complicating the clinical picture.
Investigations:
Bedside:
Observations
Bloods:
FBC/iron studies/b12/folate - anaemia may be present in 50% of cases. Cause of anaemia: iron deficiency (microcytic), folate or b12 deficiency (macrocytic). Folate deficiency is comparatively more common than B12 deficiency in Coeliac disease.
Blood film - may display a dimorphic picture: a mixture of micro/macrocytes. Howell-Jolly bodies – the manifestation of the functional hyposplenism seen in coeliac disease.
Thyroid function tests - relevant in this case as it may reveal a raised TSH and low T4 indicative of clinical hypothyroidism.
Bone profile - Osteomalacia picture – low calcium, high phosphate – in severe disease
Albumin - may be low.
Coeliac antibody screen
Vitamin D - possible cause for tiredness.
Glucose / Hba1c - hypoglycaemia/diabetes can contribute to tiredness.
Endoscopy with biopsy:
Small intestinal endoscopy with biopsy is the gold standard for coeliac disease diagnostic confirmation or exclusion.
It is usually carried out after a positive coeliac serological screen but can also be done in patients with coeliac disease still clinically suspected despite negative serology.
Hallmarks of coeliac disease on biopsy: Villous atrophy, Crypt hyperplasia, Intra-epithelial lymphocytosis.
Other investigations to consider:
HLA-DQ2 testing - >90% of patients with coeliac disease are HLA-DQ2 positive. HLA-DQ2 testing is only used by specialists in specific settings such as: in children who will not have an intestinal biopsy, in people who are unable to undergo a gluten challenge prior to serological testing.
Skin biopsy with direct immunofluorescence - to confirm the diagnosis of dermatitis herpetiformis if granular IgA deposition is seen in the papillary dermis.
Osteoporosis risk calculation: FRAX score / DEXA scan
Management: