OslerWeberRendu syndrome

1
Osler-Weber-Rendu syndrome

• Hereditary haemorrhagic telangiectasia
• Clinical case presentation
• Dr. Sam Kaldas
• Dr. Alicia Wang

2
Mr. N.G. History

• 68 year-old gentleman with known HHT (hereditary
  haemorrhagic telangiectasia) presented on
  30/08/04 with epistaxis and 2-3 week history of
  increasing SOB and bilateral lower limb oedema.
• No chest pain, orthopnea, PND
• No haematemesis/malaena

3
Past History

• Oslow-Weber-Rendu (HHT)
• Recurrent epistaxis
• Persistent anaemia requiring blood transfusions
  monthly
• Seen by ENT at MMC - laser cautarisation in 2003
• Reviewed by haematology in 2/03 suggested trial
  of tranexamic acid for control of bleeding
• No previous hx of GIT bleeding or Endoscopies

4
Past History -2

• Hypertension
• Rx perindopril, metoprolol
• ? Secondary CRI (Cr 0.13)
• No Past TIA/CVA
• AF ? CCF
• Rx aspirin only (previously on digoxin)
• TTE (8/04)
• Normal systolic function
• Mildly dilated LV
• Moderate concentric LVH
• Severe biatrial enlargement
• PA systolic pressure 50mmhgRap
• Mild TR and MR

5
Past History -3

• Asthma
• No formal diagnostic tests
• Rx ventolin and atrovent
• BPH
• Urology appt today (16/09/04)
• Rx prazosin and ural
• Recent admission for urinary retention (?
  Secondary to constipation)
• Herpes Zoster infection (02/03)
• ?Guillain-Barre syndrome
• Now completely resolved
• ? Portal Hypertension booked for OP U/S

6
Medications

• Perindopril 4mg/d
• Metoprolol 25mg/bd
• Frusemide 40mg/mane, 20mg/nocte
• Aspirin 100mg/d
• Prazosin 0.5mg/bd
• FGF 1/d
• Quinine sulfate PRN
• Ventolin, atrovent neb PRN
• Ural sachets
• Coloxyl senna, lactulose

7
Examination

• Afebrile, HR 100 (AF), BP 160/60, Sat 94 RA
• JVP 2-3 cm
• Telangiectases on face and lips
• Soft systolic murmur
• Chest bibasal decreased AE and crackles
• Abdo no organomegaly, ascites, or CLD
  manifestations
• Peripherally bilateral LL and sacral oedema

8
Investigations

• FBE Hb 57, WCC 2.5, No 1.59, Plat 114
• UEC Na 141, K 3.7, Cl 32, Ur 13.2, Cr 0.136
• LFT NAD except GGT 57, Alb 28
• Fe 4?, TIBC 77?, Sat 5 ?, Ferritin 12 ?
• B12 224, Folate 15.6
• Haemolytic screen Negative
• HBsAb ve, HBsAg ve, HCV -ve
• ECG AF, no acute changes
• CXR
• moderately enlarged heart
• upper lobe diversion
• blunting of R costophrenic angles with ?pleural
  thickening

9
Issues

• Anaemia and pancytopaenia
• Exacerbation CCF
• Need for endoscopy to exclude GIT bleeding
• Investigations for ? Portal hypertension

10
Management

• Transfusion 3 units PRCs ? Hb 7.4
• Transfusion further 2 units ? Hb 9.2
• Liver US Portal hypertension
• CT abdo (24/08/04)
• Portal HT- small ascites, dilated portal Vs
• Heterogenous mass L lobe of liver (?AVM)
• Hypersplenism (15cm)
• Bilateral small pleural effusions
• Gastroscopy (02/09/04)
• Moderately severe portal hypertensive gastritis
• Small amt altered blood in stomach

11
Management -2

• Colonoscopy (06/09/04)
• 5mm pedunculated polyp excised from distal
  sigmoid tubular adenoma
• Haematology review
• Monitor pancytopenia. If persistently declines,
  consider BMAT
• Currently consider hypersplenism as cause

12
Management 3(Medication changes)

• Frusemide post transfusions
• Added spironolactone
• Changed metoprolol to propranolol
• Started pantoprazole
• Ceased prazosin, iron tablets and quinine

13
Follow-up

• Med 4
• Haematology
• ENT
• Gastro
• Check further imaging for ?liver AVM