Dear colleague,
I meet Mr. Yves RET, born on 09/10/2002, as part of a family screening for Fabry disease.
A Fabry disease has recently been diagnosed and confirmed at the molecular level in a maternal cousin of Mr. RET. He is therefore referred to genetic consultation for family investigation.

Family history:
Mr. RET has 2 sisters, in good health, aged 16 and 14 years respectively.
His mother is in good health, except for asthma. She has a sister who has a son aged 18 years who has just been diagnosed with Fabry disease, following the identification of a verticillate cornea. Only Mr. RET's maternal grandmother is still alive; his grandfather died around 50 years old from renal and cardiac failure; his grandmother is being followed for type 2 diabetes.
There are no significant family histories on Mr. RET's paternal side.

Personal history:
Mr. RET underwent tonsil surgery in childhood. He also has a maintenance treatment for asthma.
He repeated his CE2 (2nd grade). He obtained a vocational high school diploma and is an apprentice electrician.
Functionally, he reports hand pain for several months, which is bothering him for his work.

Clinical examination (19 years):
Weight and height at +1 SD. HC at average. Cardio-pulmonary examination without particularities. BP 128/77 mmHg. No motor or sensory deficits. DTR present and symmetrical. Angiokeratomas in the peri-umbilical area.
The pain in the extremities he describes suggests acroparesthesias. Associated with the angiokeratomas, I make a clinical diagnosis of Fabry disease in Mr. RET. He is sampled during the consultation for metabolic and genetic confirmation. We discuss more extensively the therapeutic options following this diagnosis: enzyme replacement therapy or, as the familial mutation is accessible, chaperone protein therapy. I explain the follow-up to be established. I will see him again upon receipt of the confirmation for the implementation of the therapeutic project.

In summary:
Clinical diagnosis of Fabry disease. Biochemical and genetic confirmation in progress.
I remain at your disposal for any additional questions.
Best regards,