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ORPHA:391665  Homozygous familial hypercholesterolemia

:: Activity limitation/participation restriction is described according to the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health – Children and Youth (ICF-CY, WHO 2007). The provided information is assessed from the whole patients’ population affected by the disease, receiving standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support). Functional consequences are organized by their frequency in the patients’ population. This general information may not apply to specific cases. Some difficulties reported here can occur with a different temporality or severity degree, and others that are not listed can nevertheless arise.

 Loss of an ability
Very frequent
Temporality
Severity
Socializing
Permanent limitation
Moderate
Frequent
Temporality
Severity
Lifting and carrying objects
Transient limitation
Severe
Handling objects (fine hand use)
Permanent limitation
Moderate
Walking short distances
Transient limitation
Severe
Walking long distances
Permanent limitation
Moderate
Walking long distances
Transient limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Severe
Making/keeping friends
Permanent limitation
Moderate
Making/keeping friends
Permanent limitation
Low
Maintaining family relationships
Permanent limitation
Moderate
Maintaining family relationships
Permanent limitation
Low
Dealing with strangers
Permanent limitation
Moderate
Dealing with strangers
Permanent limitation
Low
Engaging in and maintaining intimate relationships
Permanent limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Low
Engaging in sexual relationships
Permanent limitation
Moderate
Engaging in sexual relationships
Permanent limitation
Low
Shopping
Permanent limitation
Moderate
Shopping
Transient limitation
Severe
Doing housework
Permanent limitation
Severe
Doing housework
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Moderate
Looking after/helping others
Transient limitation
Severe
Attending mainstream school
Permanent limitation
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Low
Accessing higher education
Permanent limitation
Low
Engaging in paid work in a standard environment
Permanent limitation
Low
Seeking employment
Permanent limitation
Moderate
Undertaking a complex/multiple task
Transient limitation
Moderate
Carrying out daily routines
Transient limitation
Moderate
Taking part in community life
Permanent limitation
Low
Playing with others
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Moderate
Occasional
Temporality
Severity
Lifting and carrying objects
Permanent limitation
Moderate
Walking short distances
Permanent limitation
Unspecified
Handling emotions and mood
Transient limitation
Low
Controlling one's own general behaviour
Transient limitation
Low
Undertaking a complex/multiple task
Permanent limitation
Low
Carrying out daily routines
Permanent limitation
Low
Travelling
Permanent limitation
Low
Source: Expert
Last update: 01/09/2021

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