Angiokeratoms in Fabry's disease. Pintos-Morell G, Beck M - Eur. J. Pediatr. (2009), Open-in.

Definition

Fabry's disease is the most common among hereditary lysosomal storage diseases. Women are carriers of the hereditary (X chromosomal disease). There is a lack of the enzyme alpha-galactosiderase (α-Gal A) which causes globotriaosylceramide (glycolipid, ceramide trihexoside) are stored in different parts of the body's cells and cause injury. Symptoms can be diffuse and Fabry's disease is often mistaken ("the great imitator") with rheumatic connective tissue disease and others.

Symptoms

• Symptoms often start in early childhood
  • Pain in arms, legs and stomach / intestines
  • Boys are stronger attacks than women

• Skeletal

  • Osteoporosis
    • Differential diagnosis: Other causes of osteoporosis among children
  • Bone necrosis

• Neuropathy

  • Starting on average at 10's age
  • Burning pain, especially in the hands and feet (Thin fibrous tissue)
  • Tinnitus (ringing in the ears)
  • Dizziness
  • Stroke at a relatively young age
    • Differential Diagnosis: DaDA2

• Kidneys

  • Protein in urine (which can foam)
    • Differential diagnosis: Autoimmune renal inflammation among others SLE
  • Kidney cysts
  • Reduced renal function

• Heart

  • Arrhythmias
  • Heart valve damage (aortic and mitral valve)

• Skin

  • Angiokerathoma are small, not painful bullets (papules / nodules), most often on the thighs, stomach and over the pelvis area
  • Telangiectasia
  • anhidrosis (lack of sweat)
  • Reduced saliva and tear production
    • Differential Diagnosis Sjögren's syndrome, Sarcoidosis
  • Raynaud's -like white and cold hands or burning pain (which is unusual for Raynaud's phenomenon)

• Eyes

  • Cornea verticillata (The cornea becomes unclear)
  • May be debut symptoms

• Other

  • Reduced hearing
  • Fatigue
  • Abdominal pain
  • Weight Loss

Diagnosis

• Family/ heretage, Symptoms + measure the level of alpha-galactosiderase activity

Wrong diagnosis (Similar diseases / Differential diagnoses)

• Dermatomyositis in Children (JDM)
• Rheumatic fever
• Juvenil artritt (JIA)
• Fibromyalgia
• Erytromelalgia
• Telangiectasia of other reasons
• Menier's disease
• Multiple sclerosis
• Irritable bowel syndrome
• Hypertrophic cardiopathy of other reasons
• Kidney disease of other reasons

Treatment

• Enzyme therapy can stop disease development and partially reverse symptoms
• Gene therapy is under trial (per 2018)
• Symptom Treatment
  • Medications for pain or cramps
  • Treat kidney failure
  • Pacemaker or ICD (defibrillator) in some cardiac arrhythmias

Specialists: Pediatrician, endocrinologist, cardiac kidney skin doctors

Literature

• Mahmud HM, 2014
• Chan B, SK, Therapy Easy 2018