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Hereditary hemorrhagic telangiectasia (HHT)
Also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.
Symptoms:
- Nosebleeds
- Telangiectasias (more information below)
- Shortness of breath
- Exercise intolerance
- Fatigue
- Migraine headaches
- Seizures
- Abdominal pain
- Leg swelling
- Intestinal bleeding
- Anemia
- Artery Malformations (more information below)
Preliminary plan:
- General practitioner appointment
- Complete blood count (CBC)
- Reticulocyte count
- Urinalysis
- Blood group + RhD
- Stool analysis - Protozoans and Helminths (microscopy)
- Blood test:
- Latent iron-binding capacity
- Iron
- Vitamin B12 (cyanocobalamin)
- Transferrin
- Ferritin
- Folic acid (folates)
- Potassium Sodium Chlorine (K, Na, Cl) (blood)
- Urea (BUN)
- Creatinine
- Glucose
- Cholesterol
- Triglycerides
- Alkaline phosphatase (ALP)
- Alanine transaminase (ALT)
- Bilirubin (total, direct)
- Blood clotting test:
- Prothrombin ratio (PR) / International normalized ratio (INR)
- Fibrinogen
- Thrombin time
- aPTT
- Antithrombin III (AT-III)
- D-dimer
- Lupus anti-coagulant
- Protein C
- Protein S, free
- Coagulogram
- X-ray of the esophagus, stomach, duodenum
- Histological examination of affected area skin