Arab Board Pediatrics Final Written study materials
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A 15-year-old with fatigue, weight loss, and a 'normal' blood count

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A 15-year-old with fatigue, weight loss, and a 'normal' blood count

A 15-year-old girl is brought by her mother because of 6 months of fatigue, poor concentration, and a 4 kg weight loss. She is a high-achieving student and has recently started training for a half-marathon. She denies dieting but her mother has noticed she eats very little at meals and avoids carbohydrates. Her periods, previously regular, have stopped for 4 months. Examination: weight 44 kg, height 165 cm, BMI 16.2, temperature 36.4 C, HR 52, BP 90/60, cool peripheries, fine lanugo hair on the forearms, and dry skin. She is reluctant to be examined and says 'I'm fine, everyone is overreacting.' Bloods: Hb 11.8 g/dL, MCV 88, WCC 4.2, platelets 180, sodium 134, potassium 3.2, urea 7.8, creatinine 70, glucose 3.6, TSH 1.8, free T4 12, and coeliac serology negative.

1. What is the most likely diagnosis, and which clinical and biochemical features support it rather than an endocrine or gastrointestinal cause?

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The most likely diagnosis is anorexia nervosa (restrictive type), with secondary hypothalamic amenorrhoea, relative energy deficiency in sport (RED-S), and mild electrolyte disturbance.

Supporting features:

  • Low BMI (16.2) with significant weight loss (4 kg) and food restriction, particularly avoidance of carbohydrates.
  • Amenorrhoea for 4 months in a previously regular 15-year-old - hypothalamic suppression from energy deficit, not primary endocrine disease.
  • Bradycardia (52), hypotension (90/60), cool peripheries, lanugo hair, dry skin - classic signs of starvation and increased vagal tone.
  • Hypophosphataemia/hypokalaemia (K 3.2) - from poor intake and possibly vomiting or laxative use; must be asked about.
  • Normal TSH and free T4 - makes primary hypothyroidism unlikely; in starvation, T4 may be low-normal with a normal TSH (sick euthyroid pattern).
  • Negative coeliac serology - makes coeliac disease unlikely.
  • Normal Hb, MCV, and platelets - does not exclude anorexia; anaemia is common but not universal.

Why not an endocrine cause?

  • Thyroid function is normal; hypothyroidism would cause weight gain, not loss, and would not explain the lanugo or the food restriction.
  • Addison's disease could cause fatigue, weight loss, and hypotension, but would usually show hyperpigmentation, hyponatraemia with hyperkalaemia, and a raised ACTH; the potassium is low here, not high.
  • Diabetes mellitus would cause weight loss but with hyperglycaemia, polyuria, and ketosis; glucose is 3.6.

Why not a gastrointestinal cause?

  • Coeliac serology is negative; there is no diarrhoea; and the bradycardia, lanugo, and amenorrhoea are not explained by malabsorption alone.

Important: the patient's denial ('I'm fine, everyone is overreacting') is itself a feature of the illness and should be documented, not argued with.

2. What are the immediate medical risks, and how do you assess and manage them?

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Immediate medical risks:

  1. Refeeding syndrome - the most dangerous early risk. Hypokalaemia (3.2), low BMI, and poor intake put her at high risk. Refeeding can cause a shift of phosphate, potassium, and magnesium intracellularly, leading to arrhythmia, heart failure, and seizures.
  2. Cardiac complications - bradycardia, hypotension, and electrolyte disturbance predispose to QT prolongation and arrhythmia. She needs an ECG.
  3. Hypoglycaemia - glucose 3.6; monitor and treat if symptomatic.
  4. Dehydration and renal impairment - urea 7.8 with normal creatinine suggests pre-renal impairment.
  5. Osteoporosis - prolonged amenorrhoea and low BMI; bone density should be assessed.
  6. Suicidal risk and psychiatric comorbidity - must be assessed; anorexia has a high mortality.

Assessment:

  • Full history including vomiting, laxative use, exercise, and body image; use a validated tool (e.g. SCOFF) and a confidential HEADSS assessment.
  • Examination including weight, height, BMI, temperature, HR, BP, and lying/standing BP.
  • ECG for QT interval and bradycardia.
  • Bloods: phosphate, magnesium, calcium, full electrolytes, LFTs, glucose, and amylase; repeat electrolytes daily during early refeeding.
  • Bone density (DEXA) if amenorrhoea persists.
  • Psychiatric assessment for depression, anxiety, and suicidality.

Management:

  • Admission if there is significant medical compromise (bradycardia, hypotension, hypokalaemia, hypoglycaemia, or rapid weight loss).
  • Start refeeding cautiously - begin at a low calorie target and increase gradually; monitor phosphate, potassium, and magnesium daily; give thiamine before feeding and multivitamins; replace electrolytes.
  • Do not aim for rapid weight gain; the goal is steady, medically supervised re-feeding.
  • Multidisciplinary team - paediatrician, dietitian, psychologist/psychiatrist, and specialist eating disorder service.
  • Family-based therapy is first-line for adolescents.
  • Safety-netting: return if palpitations, syncope, or worsening weakness.

3. The mother asks whether she should be 'made to eat' and whether this is 'just a phase'. How do you respond, and what is the role of the family in treatment?

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Answering 'is this just a phase?':

  • No. Anorexia nervosa is a serious mental illness with the highest mortality of any psychiatric disorder. It is not attention-seeking or a phase, and it will not resolve by simply insisting she eats.
  • Be clear and compassionate: "This is a real illness. Her body is in a state of starvation, and that affects her thinking as well as her body. She is not doing this to upset you."

Answering 'should we make her eat?':

  • Forcing food creates conflict and can worsen the illness. The goal is supported, supervised meals with a clear plan, not battles at the table.
  • Parents should be involved as partners in the treatment, not as enforcers. Family-based therapy (the Maudsley approach) empowers parents to take charge of meals in a supportive way, initially with the therapist's guidance, and gradually hands control back to the adolescent.
  • Practical advice: eat together, avoid commenting on her body or food, do not label foods as 'good' or 'bad', and keep the focus on health rather than weight.

Role of the family:

  • Monitoring - parents should observe meals and snacks, and watch for vomiting or excessive exercise.
  • Emotional support - acknowledge the illness without blaming; siblings also need support.
  • Practical support - reduce exercise, remove scales, and avoid diet talk at home.
  • Engagement with the team - attend appointments, and be part of the treatment plan.

Confidentiality:

  • Explain that you will keep some things confidential (as is appropriate for a 15-year-old) but that safety concerns will be shared with her parents.
  • Assess for suicidality and self-harm, and involve the mental health team.

Prognosis:

  • With early and consistent treatment, many adolescents recover. Relapse is common, so follow-up should be long-term.
  • Be honest that recovery takes time and that the family's involvement is one of the strongest predictors of a good outcome.