Fabry disease - Skin in Adult
Signs and symptoms are myriad. Pain is one of the earliest symptoms – and the most incapacitating – starting with acroparesthesia and a burning pain in the hands and feet, often in the first decade of life. A more severe form of pain, known as Fabry's crisis, occurs beginning in the hands and feet and radiating proximally into the limbs. This pain may be initiated by factors such as heat, cold, fatigue, stress, illness, or exercise. Episodes of pain may last from a few minutes to hours or even days. Episodes of Fabry's crisis tend to decrease with advancing age.
Chronic pain may have an even greater impact on the patient's psycho-social well being. The second most common group of symptoms includes abdominal pain, nausea, vomiting, and diarrhea from early childhood. Additional symptoms include joint pain, intolerance to heat and exercise due to hypohidrosis and anhidrosis, dry eyes and dry mouth, hearing loss and tinnitus, aphasia, dysarthria, diplopia, vertigo, seizures, and valve disease. The disease culminates in progressive cardiomyopathy and left heart failure, impaired renal function, and stroke.
As Fabry's is an inherited disease, the onset of symptoms begins in early childhood. However, a diagnosis is typically not made until much later in life for the first family member diagnosed with the disease. Other affected family members are often diagnosed at an earlier age. The condition generally progresses as follows:
- Early childhood sees the onset of the burning pain of the hands and feet, which begins between ages 5 and 7 years. Abdominal pain and diarrhea, hypohidrosis, poor growth, and then angiokeratomas develop in those aged 5-13 years.
- The second cluster of symptoms begins in early adulthood with impairment of renal function beginning as proteinuria.
- Lastly, there is the onset of cerebrovascular manifestations including conduction disturbances and progressively worsening renal function.
- Chronic renal failure is the most frequent cause of death in the third or fourth decade of life.
For more information, see OMIM.
E75.21 – Fabry (-Anderson) disease
16652001 – Fabry's disease
- Hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) – If familial, is autosomal dominant
- Angiokeratomas of Fordyce
- Angiokeratomas of Mibelli
- Angiokeratoma circumscriptum naeviform
- Lobular capillary hemangioma (pyogenic granuloma) – Usually not multiple
- GM1 gangliosidosis
- Eruptive angioma
- Alpha-N-acetylgalactosaminidase deficiency (Schindler disease)