title: Myxoedema in a patient with achondroplasia in rural area of Guatemala.
abstract: A 43-year-old indigenous Guatemalan woman with achondroplasia presented to our clinic with chronic fatigue and generalised oedema. She had limited contact with the formal healthcare system. However, 1 year prior, she had sought medical evaluation from a private physician. Her symptoms had been attributed to a combination of heart failure and physical disability due to the musculoskeletal complications of her achondroplasia. She was lost to follow-up due to inability to pay for further testing or treatment. On initial laboratory evaluation in our clinic, she was found to have a thyrotropin level greater than assay. With initiation of oral levothyroxine supplementation, her dyspnoea and oedema completely resolved. The case illustrates how indigenous patients in rural Guatemala experience many barriers to accessing high-quality medical care. As a result, presentations of common illnesses are often very advanced and definitive diagnoses and treatments are frequently delayed.
authors.affiliation: Wuqu' Kawoq, Santiago Sacatepéquez, Guatemala.
authors.forename: Michel
authors.initials: M
authors.lastname: Juarez
authors.affiliation: Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
authors.forename: Peter
authors.identifier: http://orcid.org/0000-0001-7274-8315
authors.initials: P
authors.lastname: Rohloff
mesh_terms: D000130:Achondroplasia / Q000150:complications*; D000328:Adult; D005260:Female; D006166:Guatemala / Q000208:ethnology; D006303:Health Services, Indigenous; D006801:Humans; D009230:Myxedema / Q000175:diagnosis* / Q000188:drug therapy; D012423:Rural Health; D013974:Thyroxine / Q000008:administration & dosage / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D013974:Thyroxine