PMID- 33407684
OWN - NLM
STAT- MEDLINE
DCOM- 20210618
LR  - 20210618
IS  - 1750-1172 (Electronic)
IS  - 1750-1172 (Linking)
VI  - 16
IP  - 1
DP  - 2021 Jan 6
TI  - Quality of life in Italian patients with Multiple endocrine neoplasia type 1 (MEN 
      1): results of an extensive survey.
PG  - 16
LID - 10.1186/s13023-020-01650-y [doi]
LID - 16
AB  - BACKGROUND: MEN1 is a complex, rare, syndrome inherited in an autosomal dominant 
      tract and characterized by the development of multiple neuroendocrine tumors, 
      requiring lifelong surveillance and multiple medical and surgical therapies 
      throughout the patient's life. For all these reasons, a diagnosis of MEN1 can be 
      a psychological shock for the patient, as well as his/her relatives, more so than 
      the diagnosis of a single tumor. In the last two decades, clinicians have started 
      to consider the emotional, psychological, relational, and social aspects of their 
      patients' lives. The data collected in the present analyses highlight the unique 
      features of MEN1 syndrome, and aim to evaluate the Quality of Life in the 
      patients and their relatives. In this study, a comprehensive survey of various 
      aspects of Health-Related Quality of Life was performed in a large series of 
      Italian MEN1 patients, by administering five of the most common targeted 
      questionnaires. RESULTS: The results of the study showed that our patients, 
      despite having a complex multi-tumor syndrome, were moderately optimistic (50%), 
      and this corresponds with a normal Quality of Life. This positive response is 
      strictly correlated with the fact that the patients are cared for at a dedicated 
      Referral Center, receiving personalized care and constant follow-up, which gives 
      them reassurance regarding the high quality of management of the disorder. 
      CONCLUSIONS: The possibility of having access to a clinical Referral Center for 
      their complex rare disease, together with the support of a dedicated patient 
      association, has been demonstrated to be the ideal model for the management of 
      post-diagnosis shock, and contributes to the preservation of a good 
      Health-Related Quality of Life for MEN1 patients.
FAU - Giusti, Francesca
AU  - Giusti F
AD  - Department of Experimental and Clinical Biomedical Sciences, University of 
      Florence, Largo Palagi 1, 50139, Florence, Italy.
FAU - Cioppi, Federica
AU  - Cioppi F
AD  - Department of Experimental and Clinical Biomedical Sciences, University of 
      Florence, Largo Palagi 1, 50139, Florence, Italy.
FAU - Fossi, Caterina
AU  - Fossi C
AD  - Department of Experimental and Clinical Biomedical Sciences, University of 
      Florence, Largo Palagi 1, 50139, Florence, Italy.
FAU - Marini, Francesca
AU  - Marini F
AD  - Department of Experimental and Clinical Biomedical Sciences, University of 
      Florence, Largo Palagi 1, 50139, Florence, Italy.
FAU - Masi, Laura
AU  - Masi L
AD  - Department of Experimental and Clinical Biomedical Sciences, University of 
      Florence, Largo Palagi 1, 50139, Florence, Italy.
FAU - Tonelli, Francesco
AU  - Tonelli F
AD  - Department of Experimental and Clinical Biomedical Sciences, University of 
      Florence, Largo Palagi 1, 50139, Florence, Italy.
FAU - Brandi, Maria Luisa
AU  - Brandi ML
AUID- ORCID: 0000-0002-8741-0592
AD  - Department of Experimental and Clinical Biomedical Sciences, University of 
      Florence, Largo Palagi 1, 50139, Florence, Italy. marialuisa.brandi@unifi.it.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20210106
PL  - England
TA  - Orphanet J Rare Dis
JT  - Orphanet journal of rare diseases
JID - 101266602
SB  - IM
MH  - Female
MH  - Humans
MH  - Italy
MH  - Male
MH  - *Multiple Endocrine Neoplasia Type 1
MH  - *Neuroendocrine Tumors
MH  - Quality of Life
MH  - Surveys and Questionnaires
PMC - PMC7788910
OTO - NOTNLM
OT  - HADS
OT  - IES-R
OT  - LOT-R
OT  - Multiple endocrine neoplasia type 1
OT  - Neuroendocrine tumors
OT  - Quality of life
OT  - SF-36
COIS- The authors declare that they have no competing interests.
EDAT- 2021/01/08 06:00
MHDA- 2021/06/22 06:00
PMCR- 2021/01/06
CRDT- 2021/01/07 05:49
PHST- 2020/10/08 00:00 [received]
PHST- 2020/12/17 00:00 [accepted]
PHST- 2021/01/07 05:49 [entrez]
PHST- 2021/01/08 06:00 [pubmed]
PHST- 2021/06/22 06:00 [medline]
PHST- 2021/01/06 00:00 [pmc-release]
AID - 10.1186/s13023-020-01650-y [pii]
AID - 1650 [pii]
AID - 10.1186/s13023-020-01650-y [doi]
PST - epublish
SO  - Orphanet J Rare Dis. 2021 Jan 6;16(1):16. doi: 10.1186/s13023-020-01650-y.