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A 63-year-old female was referred with a history of progressive functional decline after being found in a state of poor self-care at home. She had a history of anorexia, lethargy, abdominal discomfort, low mood and suicidal ideations. She lived alone and had little contact with healthcare in recent years.
On examination, she was hypothermic (temperature 34.5 °C), her abdomen was distended with absent bowel sounds, she had dry skin, frontal balding, periorbital, pretibial and sacral oedema with erythema ab-igne on both lower limbs where she had been applying a hot water bottle (see Fig. 1). She had a marked flat affect. Mini mental state exam (MMSE) score was 18/30, indicative of cognitive impairment.
Fig. 1Panel A. Clinical appearance on presentation including hair loss, myxoedematous facies and abdominal distention.
On initial laboratory tests haemoglobin was 11.0 g/dl (RR 11.7–16), serum potassium 2.6 mmol/L (RR 3.3–5.0), creatinine 147 mmol/L (RR 46–86), albumin 31 g/dl (RR 35–50), and creatine kinase 490 IU/L (RR 0–170). Abdominal radiograph showed large bowel dilation consistent with pseudo-obstruction. Echocardiogram showed a globally reduced systolic function, with an ejection fraction of 35%.
2. What is the diagnosis?
Thyroid function tests showed undetectable free thyroxine (T4) and triiodothyronine (T3) concentrations with thyroid stimulating hormone (TSH) >100 mIU/L. Thyroid peroxidase (TPO) antibodies were raised (996 U/ml). The patient was commenced on 100 μg oral L-thyroxine daily. T4 absorption study showed poor serum concentration so intravenous T3 was added for 10 days until serum free T4 concentration reached normal level. Oral L-thyroxine was continued. Glucocorticoids were administered empirically but subsequently discontinued following a normal response to short synacthen test.
She was discharged after 33 days in hospital. Twelve weeks later, she was well, euthymic and living independently. MMSE score was 28/30. Unfortunately her renal and cardiac function declined and one year later she was commenced on haemodialysis.
Severe hypothyroidism can manifest with dysfunction of nearly all major organs [
]. Psychiatric (low mood, impaired cognition), metabolic (hypothermia), cardiovascular (decreased left ventricular function), gastrointestinal (ileus), haematological (anaemia), renal (impaired renal function), musculoskeletal (raised CK) and skin manifestations (dry skin) are all evident in this severe case. Although rare, physicians need to be aware of the possibility of myxoedema in the differential diagnosis of patients presenting with similar clinical features. Early recognition of this potentially fatal condition is essential. Prompt treatment initially with intravenous T3 or T4 due to absorption uncertainty followed by oral replacement results in reversal of clinical features [