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Pseudoacromegalic facial features in Fabry disease
V Hogarth1, D Hughes, C H Orteu
1Department of Dermatology, Royal Free Hospital, Pond Street, London, UK. victoriajhogarth@gmail.com
Clinical and Experimental Dermatology
|June 27, 2012
Summary
Fabry disease (FD) affects many women, often with delayed diagnosis due to subtle symptoms. This case highlights less recognized FD features in females, emphasizing the need for early detection and management of this genetic disorder.
Area of Science:
- Genetics
- Biochemistry
- Internal Medicine
Background:
- Fabry disease (FD) is an X-linked lysosomal storage disorder with significant impact on affected heterozygous females.
- Female patients often experience delayed diagnosis due to subtle or atypical clinical presentations.
- FD can lead to severe complications including stroke, heart disease, and renal failure.
Observation:
- A female patient with a family history of FD presented with less recognized features, including a pseudo-acromegalic facial appearance.
- Cutaneous manifestations like angiokeratoma corporis diffusum, common in males, were absent.
- Genetic analysis revealed a deletion at exon 1 of the alpha-galactosidase (GLA) gene, confirming FD.
Findings:
- The patient's plasma and leucocyte alpha-galactosidase levels were within the lower range of normal, a common finding in 30% of women with FD.
- Despite normal enzyme levels, the patient exhibited symptoms and signs of end-organ damage at presentation.
- This case underscores the variability in clinical presentation and diagnostic challenges in female FD patients.
Implications:
- Early recognition of subtle clinical signs in women is crucial for timely FD diagnosis.
- Monitoring for end-organ damage is essential, even with enzyme levels at the lower end of normal.
- This case emphasizes the importance of considering FD in women with unexplained symptoms and a family history, irrespective of classic signs.
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