Misdiagnosis of alkaptonuria in an elderly patient

Tseliou, Georgia C; Giannelou, Mayra P.; Boulios, Evangelos A; Klangou, Anastasia K.; Katsoulis, G.; Bailas, George D.; Georgountzos, A.

doi:10.22540/jrpms-02-007

Cited by 1 publication

(2 citation statements)

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“…AKU is a slowly progressing disease with a presymptomatic phase that makes diagnosis difficult. Many patients are also misdiagnosed with the more common osteoarthritis . Dark urine and staining of nappies are the earliest clues for diagnosing AKU and it can be confirmed by urine HGA measurement .…”

Section: Introductionmentioning

confidence: 99%

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A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care

et al. 2020

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Background: Alkaptonuria (AKU) is an ultrarare and multifaceted disease characterized by the absence of functional homogentisate 1,2-dioxygenase activity, the enzyme responsible for breakdown of homogentisic acid-a tyrosine-degradation product. The presymptomatic phase of the disease makes diagnosis difficult, with many patients unidentified or diagnosed late in life. Objective: To date, no study has analyzed the perceived impact of different symptoms or the experiences of individuals through the patient journey in the context of AKU. This study aimed to examine patients' perceptions of AKU symptoms and their impact on quality of life as well as patients' experiences of being diagnosed and living with the disease. Methods: Data for this study were collected using a quantitative self-report questionnaire administered online to people with AKU. Results: Data from 45 participants indicate that symptoms with the highest impact for patients are those related to pain and ruptures, disability and inability to perform normal routines, emotional/mental health issues, and heart complications.Findings also revealed significant delays in contact with healthcare services and time to diagnosis. Furthermore, patients reported difficulty in receiving information about AKU, treatment and care, and long-term disease management support.Conclusions: Time to diagnosis and care of AKU is significantly delayed. Symptoms of AKU with the highest impact on quality of life for patients are those related to pain and disability and the inability to perform normal routines. Bridging any gaps between patients with AKU and healthcare professionals through education could help improve patients' experiences with AKU through the patient journey. K E Y W O R D SAlkaptonuria, impact of symptoms, orphan disease, patient experience, quality of life, rare disease

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Section: Introductionmentioning

confidence: 99%

“…Many patients are also misdiagnosed with the more common osteoarthritis. 13,14 Dark urine and staining of nappies are the earliest clues for diagnosing AKU and it can be confirmed by urine HGA measurement. 6,8 However, these clues are often missed, only to become apparent later in adult life when signs and symptoms appear.…”

Section: Introductionmentioning

confidence: 99%