Inborn Errors of Metabolism Affecting Connective Tissue
- 1. Consider homocystinuria in a patient with marfanoid habitus, stiff joints, mental deficiency, and thromboembolic events.
- 2. Attenuated forms of lysosomal storage diseases (LSDs) may present with rheumatic manifestations resembling juvenile idiopathic arthritis.
- 3. Suspect Fabry disease in a patient with fibromyalgia-like symptoms, acroparesthesias, angiokeratomas, and a paternal history of early-onset renal failure.
