Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study.
Phenylketonuria (PKU) is a rare inborn disease, which, untreated, leading to severe neurobehavioral dysfunction. Considering its complexity, the management of PKU may bring a formidable economic burden to parents and caregivers. It is still unknown what the out-of-pocket expenses are for a patient with PKU in China. This paper explores the household financial burden of classical PKU and its impact on Chinese families in a quantitative manner for the first time.



A non-interventional and observational study was conducted at the China-Japan Friendship Hospital, one of the national centers for inherited metabolic disorders in China. The medical and non-medical household financial burdens were consolidated into a questionnaire to evaluate the out-of-pocket costs (OOPCs) of PKU treatment and follow-up.



The total OOPCs were USD$3766.1 (0y), USD$3795.2 (1-2 ys), USD$4657.7 (3-4 ys), USD$5979.9 (5-8 ys), and USD$5588.7 (9 ys and older) for PKU patients of different age groups. The median economic burden of classical PKU was 75.0 % of total annual family income (range 1.0-779.1 %), and 94.4 % of the families exceeding the threshold considered as catastrophic expenditure. There was a negative correlation between the financial burden and the proportion of time when Phe concentrations were in the desired target range (120-250 μmol/L) in 0-4-ys group (r = -0.474, p = 0.026).



The management of PKU is associated with a severe financial burden on patients' families, which may lead to insufficient treatment or variation of blood Phe concentration. The current reimbursement policies are as yet inadequate. A national reimbursement system targeting treatment practices for PKU patients and other rare diseases across China is imperative.
Department of Preventive Health Care, China-Japan Friendship Hospital, Beijing, China.
Lin
L
Wang
Newborn Screening Center, Jinan Maternity and Child Care Hospital, Jinan, Shandong Province, China.
Hui
H
Zou
Department of Preventive Health Care, China-Japan Friendship Hospital, Beijing, China.
Fang
F
Ye
Department of Pediatrics, China-Japan Friendship Hospital, No. 2, Yinghua East Street, Chaoyang District, Beijing, 100029, China.
Kundi
K
Wang
Department of Nutrition, China-Japan Friendship Hospital, Beijing, China.
Xiaowen
X
Li
Clinical Research Institute, China-Japan Friendship Hospital, Beijing, China.
Zhihua
Z
Chen
Department of Preventive Health Care, China-Japan Friendship Hospital, Beijing, China.
Jie
J
Chen
Newborn Screening Center, Jinan Maternity and Child Care Hospital, Jinan, Shandong Province, China.
Bingjuan
B
Han
Clinical Research Institute, China-Japan Friendship Hospital, Beijing, China.
Weimin
W
Yu
Clinical Research Institute, China-Japan Friendship Hospital, Beijing, China.
Chun
C
He
Department of Pediatrics, China-Japan Friendship Hospital, No. 2, Yinghua East Street, Chaoyang District, Beijing, 100029, China. shenming26@msn.com.
Ming
M
Shen
D002681:China; D017281:Cost of Illness; D003430:Cross-Sectional Studies; D005191:Family Characteristics; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D010661:Phenylketonurias / Q000191:economics* / Q000628:therapy*; D035583:Rare Diseases / Q000191:economics / Q000628:therapy; D011795:Surveys and Questionnaires