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A family with Fabry disease diagnosed by a single angiokeratoma
Andrea Corry1, Cliona Feighery, David Alderdice
1Department of Dermatology, Royal Victoria Hospital, Belfast Health and Scoial Care Trust, Belfast, Ireland.
Insights
A solitary angiokeratoma can indicate Fabry disease, a genetic disorder. Early diagnosis through family history and genetic testing is crucial for timely enzyme replacement therapy.
Area of Science:
- Genetics
- Dermatology
- Rare Diseases
Background:
- Fabry disease is a rare genetic disorder.
- Angiokeratomas are skin lesions that can be associated with Fabry disease.
Observation:
- A 39-year-old male presented with a solitary angiokeratoma and a family history of early-onset cardiac disease.
- Genetic testing revealed a missense mutation (A143T) in the Fabry gene, confirming the diagnosis.
- The patient had otherwise normal health, with high serum creatinine as the only abnormality.
Findings:
- Family screening identified two additional affected males and four carrier females.
- Testing of five other patients with solitary angiokeratomas did not reveal further cases of Fabry disease.
- This suggests that a solitary angiokeratoma can be the sole presenting feature of Fabry disease, especially with a relevant family history.
Implications:
- Dermatologists should consider Fabry disease in patients with solitary angiokeratomas, particularly if there is a family history of cardiac issues.
- Early detection of Fabry disease allows for timely initiation of enzyme replacement therapy, potentially improving patient outcomes.
- Detailed family history is essential for identifying milder phenotypes and at-risk individuals.
Abstract:
This case presents a 39-year-old gentleman with a single angiokeratoma on the abdomen. Because of a family history of early onset cardiac disease, testing for Fabry disease was performed and a mis-sense mutation (A143T) in the Fabry gene confirmed the diagnosis. The unusual aspect of this case is that the patient otherwise had normal health. His only detectable abnormality was a high serum creatinine at 116 mmol/L. Two further affected males and four carrier females were detected on family screening. We tested a further five patients with a single angiokeratoma for Fabry disease. In the five tested though, no suggestive personal or family history was given for any of the patients and no further cases were detected. This case highlights the need for vigilance within dermatology clinics to consider Fabry disease even if a solitary angiokeratoma is the only presenting feature. Some patients do display a milder phenotype and thus a detailed family history should always be taken. As in this case, a solitary angiokeratoma and a suspicious family history may be the only clue. Because enzyme replacement therapy is now available, the potential benefits for the patient and their family are high.
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