Light Chain (AL) Amyloidosis: The Journey to Diagnosis
#MMPMID28808991
McCausland KL
; White MK
; Guthrie SD
; Quock T
; Finkel M
; Lousada I
; Bayliss MS
Patient
2018[Apr]; 11
(2
): 207-216
PMID28808991
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BACKGROUND: Light chain (AL) amyloidosis is a rare, complex disease associated
with significant morbidity and mortality. Delays in diagnosis are common and may
have detrimental consequences on patients' prognosis. Too little is known
regarding the patient journey to diagnosis. OBJECTIVE: The objective of this
study was to describe the patient-reported journey to a correct diagnosis for AL
amyloidosis. METHODS: Using a mixed-methods approach, data were collected from
clinician (n = 4) and patient (n = 10) interviews and a survey of community-based
patients with AL amyloidosis (n = 341). Data were used to document the patient
experience between the onset of symptoms and the receipt of a diagnosis. RESULTS:
Delays in diagnosis were common. Qualitative and quantitative data indicated that
initial symptoms were varied and similar to other more prevalent diseases. Two
themes regarding the journey to diagnosis emerged: (1) barriers to an early
diagnosis; and (2) the emotional toll of the journey. Time to diagnosis was
heavily influenced by how patients interpreted their initial symptoms, whether
they sought early medical help, and challenges associated with making
differential diagnoses. Survey results indicate that patients with primary
cardiac involvement were more likely to receive a delayed diagnosis than those
with primary kidney involvement. Patients described mixed emotions associated
with the eventual diagnosis of AL amyloidosis. CONCLUSIONS: These data support a
need for better early identification and support for patients seeking a
diagnosis. Increasing clinician awareness may reduce the time to diagnosis.
Additional research is needed to identify optimal diagnostic testing to reduce
delays in treatment initiation and subsequent severe impacts on health.
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