Fabry disease is a rare, inherited genetic condition that stems from a deficiency in the enzyme alpha-galactosidase A (alpha-GAL A). This enzyme breaks down a fatty substance called globotriaosylceramide (Gb3) within cells. Without enough functional alpha-GAL A, Gb3 accumulates throughout the body, affecting various organs and tissues, including the skin, heart, kidneys, and nervous system. Fabry disease has widespread systemic effects, but often presents with characteristic facial signs, providing important clues for diagnosis.
Facial Skin Manifestations
Angiokeratomas are a recognizable skin sign of Fabry disease on the face. These are small, non-blanching spots that range in color from dark red to purplish-black. They occur due to Gb3 accumulation within small blood vessels near the skin’s surface, causing vessel walls to bulge and dilate.
On the face, angiokeratomas are common around the lips, on the chin, and sometimes inside the mouth. They can appear as early as childhood, and their number and extent tend to increase over time. These lesions are painless, but their presence can be an early indicator of the underlying genetic disorder.
Distinctive Facial Structure
Beyond skin lesions, some individuals with Fabry disease may develop subtle “coarse” facial features. These features relate to Gb3 accumulation within bone and soft tissues during development. This can lead to an altered appearance over time.
Specific features include a prominent brow or forehead, a broad nasal base, and full lips. A prominent jawline or prognathism can also be noted in some cases. These structural changes are variable.
Ocular (Eye) Involvement
The eyes can show signs of Fabry disease; the most common finding is cornea verticillata. This condition presents as a distinctive whorl-like, spoke-like, or cream-colored pattern on the cornea. It results from glycosphingolipid deposition in the basal epithelial layer of the cornea.
Cornea verticillata is asymptomatic, not affecting vision or causing discomfort. It is detected during a routine eye examination using a slit lamp. Other less frequent ocular signs may include tortuosity of the conjunctival and retinal blood vessels.
Managing Fabry Disease Manifestations
The primary treatment for Fabry disease is Enzyme Replacement Therapy (ERT). This therapy involves regularly infusing a synthetic version of the missing alpha-GAL A enzyme. ERT aims to break down accumulated Gb3, slowing disease progression and preventing symptom worsening, including facial signs.
While ERT addresses the underlying metabolic disorder, cosmetic treatments can manage visible facial signs like angiokeratomas. Laser therapy can effectively reduce or remove these skin lesions for aesthetic reasons. However, these cosmetic procedures do not treat the root cause of Fabry disease.