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Proximal myopathy and bone pain as the presenting features of coeliac disease
  1. M Wong,
  2. J Scally,
  3. K Watson,
  4. J Best
  1. University of Melbourne Department of Medicine, St Vincent's Hospital, Melbourne, Victoria, Australia; wongbell{at}

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    It is rare for coeliac disease to present only with symptoms of osteomalacia, without the classic symptoms of diarrhoea, steatorrhoea, and abdominal discomfort.1–5

    A 22 year old woman presented with 18 months of a waddling gait disturbance. Hip and back x rays were normal. She experienced bone pain when being hugged, when laughing, or coughing, and had difficulty standing up from a low chair and holding her arms up to blow-dry her hair. She had extreme tiredness and thought she might have lost some weight, but there were no gastrointestinal symptoms.

    On examination, she was pale and had difficulty squatting and holding her arms above her head.

    Investigations showed a mild anaemia secondary to β thalassaemia minor and iron deficiency. Other investigations disclosed a raised alkaline phosphatase of 1375 U/l (normal 30–120 U/l), reduced red blood cell folate level of 290 nmol/l (>300 nmol/l), corrected calcium of 1.75 mmol/l (2.15–2.65 mmol/l), phosphate 1.0 mmol/l (0.8–1.4 mmol/l), 25-hydroxy vitamin D <5 nmol/l (15–110 nmol/l), and raised parathyroid hormone 53.1 pmol/l (1.0–6.5 pmol/l).

    Investigations were carried out for a malabsorption syndrome. Antigliadin, antiendomysial, and antiglutaminase antibodies were strongly positive, and a small bowel biopsy showed almost total villous atrophy, confirming the diagnosis of coeliac disease.

    A bone scan demonstrated increased activity throughout the skeleton, consistent with secondary hyperparathyroidism. Osteoporosis was demonstrated by dual emission x ray absorptiometry estimation of bone mineral density, with the lumbar spine measuring 0.882 g/cm2 (2.65 SD below the young adult female mean) and the neck of the femur 0.633 g/cm2 (2.9 SD below the mean).

    Treatment involved a gluten free diet, ergocalciferol 3000 IU daily, calcium carbonate 600 mg twice a day, slow release ferrous sulphate 350 mg daily, and folic acid 5 mg daily.

    Within two months her bone pain and tiredness resolved and her strength had returned to normal. Calcium was within the normal range, and alkaline phosphatase reduced to 374 U/l. Bone mineral density had increased markedly after 12 months of treatment, with the lumbar spine increasing by 37% to 1.204 g/cm2 (mean level for young adult women), and the neck of the femur by 39% to 0.878 g/cm2 (0.8 SD below the mean). She had also gained more than 7 kg in weight, and repeat gastroscopy and duodenal biopsy were normal.

    Osteomalacia is now an uncommon disease, and even more uncommon is the presenting symptom of coeliac disease. Since its first description in 1965,1 there have been several more case reports of coeliac disease presenting with bone pain, proximal myopathy, radiographic findings of pseudofractures and Looser's zones, or secondary hyperparathyroidism evident on bone scan.2–5 Most patients were middle aged and responded within six months to treatment with a gluten-free diet, supplemental calcium, and vitamin D, and in some cases with the addition of bisphosphonates.5 A recent case finding study of coeliac disease showed that many patients in fact present with non-gastrointestinal symptoms, of which anaemia is the most common.6

    Hypocalcaemia in coeliac disease is caused by reduced gut absorption of calcium as a consequence of reduced levels of the fat soluble vitamin D. It is also due to reduced absorptive surface area secondary to villous atrophy, and calcium lost in the stools by binding to unabsorbed dietary fatty acids to form insoluble calcium soaps.3

    Secondary hyperparathyroidism can develop as it did in this case, causing increased bone turnover.4 Low bone mineral density is probably due to a combination of hypocalcaemia, impaired bone mineralisation, and reduced exercise because of skeletal pain and proximal weakness.4,6

    Early diagnosis of coeliac disease is important because untreated patients have an increased risk of gastrointestinal lymphomas. Useful screening blood tests include determination of antigliadin and antiendomysial antibodies. They have a high sensitivity and specificity, with a negative predictive value of around 95%.6–8 There is a genetic influence on the susceptibility to coeliac disease, with a 10% prevalence rate among first degree relatives. On screening our patient's relatives, one of two siblings was also found to have coeliac disease. A strong association has been found with HLA-DR3 and DR5/DR7.9

    Treatment with a gluten-free diet with subsequent villous restitution on repeat biopsy has been associated with rapid gains and even normalisation of bone mineral density; the greater the degree of osteopenia, the more rapid the gain.4,10 The change is due to improvement of calcium and vitamin D status, leading to remineralisation of the large volume of unmineralised osteoid matrix.4 Introduction of hormone replacement therapy in women approaching the menopause, and bisphosphonates in patients with osteoporotic fractures, should also be considered.4,5

    Osteomalacia presenting with muscle weakness and aches may be the only presenting features of coeliac disease. Prompt treatment and diagnosis is important because treatment with a gluten-free diet and replacement therapy including vitamin D may lead to rapid and effective recovery.4