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Rare disease
CASE REPORT
Hidden burden of osteoporosis in alpha-1 antitrypsin deficiency
  1. Emanuela Filipas1,
  2. Iain Southern2,
  3. Pooja Khanna3,
  4. Ritwik Banerjee4
  1. 1Department of Endocrinology and Diabetes, East and North Hertfordshire NHS Trust, Stevenage, UK
  2. 2Department of Respiratory Medicine, Luton and Dunstable University Hospital NHS Foundation Trust, Luton, UK
  3. 3Department of Hepatology, Luton and Dunstable University Hospital NHS Foundation Trust, Luton, UK
  4. 4Department of Endocrinology and Diabetes, Luton and Dunstable University Hospital NHS Foundation Trust, Luton, UK
  1. Correspondence to Dr Emanuela Filipas, emabejn{at}hotmail.com

Summary

This is a reminder of a rare cause of osteoporosis that remains widely underdiagnosed and lacks specific evidence on its optimal management. We bring a case report of a patient presenting with erectile dysfunction and high testosterone level but also elevated sex-hormone binding globulin hence low free androgen index as well as evidence of organ specific hypogonadal side effects such as osteoporosis. A unifying diagnosis of alpha-1 antitrypsin deficiency (AATD) brought together his coexistent mild chronic obstructive pulmonary disease as well as a new finding of previously unrecognised liver disease. This case highlights the uncertainties over the mechanism of osteoporosis in AATD as well as the controversies over best way to manage it. The efficacy of testosterone replacement in managing osteoporosis in the context of AATD remains untested. National registries for AATD would be best placed at gathering further evidence in this area.

  • pulmonary emphysema
  • osteoporosis
  • hepatitis other

https://doi.org/10.1136/bcr-2017-223557

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    Footnotes

    • Contributors All authors have had major contributions to the case presented, bringing a unique perspective from their own specialty field. The case report was reviewed and approved by all authors. EF (previously Bejinariu) was involved in the writing of the manuscript, clinical review of the patient described in the case report in the Endocrinology Clinic and soliciting support from the associated specialties in the expert review of the patient. IS was involved in the revision of the manuscript and was in charge of the clinical care of the patient described in the case report in the Respiratory Medicine Clinic. He also facilitated the coordination of Genetics investigations. PK was involved in the revision of the manuscript and was in charge of the clinical care of the patient described in the case report in the Hepatology Clinic. RB was involved in the revision of the manuscript and was in charge of the clinical care of the patient described in the case report in the Endocrinology Clinic.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.