Bibliographic Details
| Title: |
A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care |
| Authors: |
Mattias Rudebeck, Ciarán Scott, Nicolas Sireau, Lakshminarayan Ranganath |
| Source: |
JIMD Reports, Vol 53, Iss 1, Pp 71-79 (2020) |
| Publisher Information: |
Wiley, 2020. |
| Publication Year: |
2020 |
| Collection: |
LCC:Diseases of the endocrine glands. Clinical endocrinology
LCC:Genetics |
| Subject Terms: |
Alkaptonuria, impact of symptoms, orphan disease, patient experience, quality of life, rare disease, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470 |
| More Details: |
Abstract 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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2192-8312 |
| Relation: |
https://doaj.org/toc/2192-8312 |
| DOI: |
10.1002/jmd2.12101 |
| Access URL: |
https://doaj.org/article/c4b98782534a4c4e8ec81c5afbdbd9df |
| Accession Number: |
edsdoj.4b98782534a4c4e8ec81c5afbdbd9df |
| Database: |
Directory of Open Access Journals |
