Dear colleague,
We saw on 25/07/2023 in genetic consultation Mrs. KERTATOME Ange, born on 25/07/1993, in the context of a suspicion of Fabry disease.
Family history:
Mrs. KERTATOME Ange is the first daughter of a sibling of two from a non-consanguineous couple in good health.
Her sister, Mrs. VERTI Cilia, is a carrier of Fabry disease, presenting with acroparesthesias and hypertrophic cardiomyopathy. She has been treated with enzyme replacement therapy for five years.
Her father is the index case in whom Fabry disease was identified. He has experienced multiple strokes since 2010, as well as hypertrophic cardiomyopathy.
Personal history:
Mrs. KERTATOME Ange's medical history includes:
Severe hyperopia monitored with astigmatism.
Suspicion of paucisymptomatic Fabry disease, without molecular confirmation, with disabling acroparesthesias since primary school (limitation of physical activities, difficulties at work, pain exacerbated by heat), and some digestive pain.
No renal involvement, notably no proteinuria and normal creatinine.
Current treatment: None
Recent explorations:
No verticillate cornea or corneal opacity.
Normal cardiac ultrasound in 2023.
Normal electrocardiogram in 2021.
Negative creatinine and proteinuria in December 2022.
Clinical examination:
Mrs. KERTATOME measures 165 cm and weighs 60 kg. She has no sensory-motor deficits. Her osteotendinous reflexes are difficult to elicit in the patellar reflex but are normal in the Achilles reflex. The cutaneous-plantar reflexes are flexed. There are no oculomotor disturbances or signs of ataxia. On the cutaneous level, we find a discrete and unique angiokeratoma in the area of the navel.
On the genetic level:
We propose today, given the patient's symptomatology and the family history of Fabry disease in her father, to search for the familial mutation in her, as well as to perform a blood test for the LysoGb3 marker and the activity of the alpha-galactosidase enzyme.
We explained to the patient the transmission and manifestations of Fabry disease, emphasizing its X-linked inheritance pattern and the variability of symptoms in males and females.
In summary:
Mrs. KERTATOME Ange is a 30-year-old patient presenting with symptomatology suggestive of Fabry disease, known in her father. She primarily presents with disabling acroparesthesias. We are initiating today the genetic analysis to search for the familial mutation in her, as well as the dosage of biomarkers of enzymatic activity. The results of these analyses could take several months, and we will not fail to contact the patient for the results report.
We remain at your disposal for any further information.
Best regards,