Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1)

University Hospital Center (CHU)

Status: Unknown

Conditions: Primary Lymphedema

Study type: Observational

Funder types: Other

Identifiers

NCT04919655

RECHMPL21_0086

Details and patient eligibility

About

The investigators will describe the expression of mutation CELSR1 with codon stop and amino acids substitution mechanism in primary lymphedema, in both clinical examination and imaging exploration

Full description

According to the literature, it seems that the mutation of the CELSR1 gene is associated with primary lymphedema.

Thus, the investigators have identified families with CELSR1 mutation with codon stop or animo acid substitution mechanisms among patients followed up in vascular medicine department, at Montpellier University hospital for primary lymphedema of lower limbs.

Among the mutation carriers, the investigators have collected the clinical examinations and imaging exploration results, realized systematically during the follow up of all the patient with primary lymphedema (venous Doppler, MRI of the lymphatic system, lymphoscintigraphy of the lower limbs, abdominal ultrasound), in order to search for a morphological and functional pattern associated with the mutation.

Enrollment: 31 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Patient followed up in vascular medicine departement at Montpellier University Hospital for primary lymphedema of lower limbs, who carries the CELSR1 mutation with codon stop or amino acids substitution mechanism.
• Relatives to the index case who carry the mutation for the segregation study.

Exclusion criteria

• Patients who carry another mutation than CELSR1 responsible for primary lymphedema
• Syndromic form of primary lymphedema
• Patient not followed up at Montpellier University Hospital.