Hennekam Lymphangiectasia-Lymphedema syndrome 1 (HKLLS1)

What is Hennekam Lymphangiectasia-Lymphedema syndrome 1 (HKLLS1)?

Hennekam syndrome is a rare disease which affects the lymphatic system. The lymphatic system also involves the circulatory and immune systems. It is what transports immune and lymph cells around the body.

Symptoms and life expectancy with the syndrome can vary widely between patients, including those within the same family. Some patients survive into adulthood. There are currently 50 cases of the syndrome reported worldwide. The syndrome is usually recognized at birth.

What gene changes cause Hennekam Lymphangiectasia-Lymphedema syndrome 1 (HKLLS1)?

It is caused by mutations in the CCBE1, FAST4 or ADAMTS3 genes. Hennekam syndrome is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Hennekam Lymphangiectasia-Lymphedema syndrome 1 (HKLLS1)?

Lymphangiectasia, or lymph vessels that are swollen, is the most common symptom of Hennekam syndrome. This tends to affect most severely the vessels that carry lymph cells to and from the intestines. This can also affect the skin, kidneys and heart of an affected individual or patient.

Another main symptom is Lymphedema, which is a build up of fluid in the body that causes puffiness and swelling.

Unique facial features include a flattened middle part of the face, puffy eyelids, widely-spaced eyes, small ears and mouth. A small head and premature fusing of the skull bones are also recognized features of Hennekam syndrome.

Other features include mild to severe intellectual disability, anemia (a shortage of red blood cells), multiple spleens, misplaced kidneys, genital abnormalities and umbilical hernia. Excessive body hair, scoliosis and clubfoot are also recognized as symptoms of the disease.

How does someone get tested for Hennekam Lymphangiectasia-Lymphedema syndrome 1 (HKLLS1)?

The initial testing for Hennekam Lymphangiectasia-Lymphedema syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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