HAEMOPHILIA: What we know, future perspectives and the Kenyan Situation .

HAEMOPHILIA: What we know, future perspectives and the Kenyan Situation. Dr. Festus Njuguna Moi University/MTRH

INTRODUCTION • Genetic X-linked disorder • Haemophilia A and B • Affects 1 per 10,000 deliveries • 30% of cases due to new mutations • Haemophilia A more common

Normal range of FVIII & IX ~1/3 of carriers have levels in low or below normal range Moderate hemophilia Mild hemophilia High levels found in pregnancy Range of Factor VIII or IX Activity Severe hemophilia Level above which bleeding after injury is unlikely

INTRODUCTION • Joint bleeds ( knee, ankle) is the commonest presentation • Also causes muscle bleeds, intracranial bleeding, GIT bleeding

Bleeding episodes • 70-80% of bleeding episodes are into joints • Acute • Pain, swelling, interference with normal activities • Chronic • Synovial hypertrophy and synovitis leading to hemophilic arthropathy, disability Arun B, Kessler CM. In: Colman et al, eds. Hemostasis and Thrombosis: Basic Principles and Clinical Practice. 4th ed. 2000:815-824. World Federation of Hemophilia (WFH). Guidelines for the Management of Hemophilia 2005. http://www.ehc.eu/fileadmin/dokumente/Gudelines_Mng_Hemophilia.pdf.

LABORATORY EVALUATION • Prolonged APTT • Mixing studies • Factor assays • Inhibitor testing

TREATMENT • Replace missing factor • Whole blood, FFP, cryoprecipitate, factor concentrates( plasma derived, recombinant) • RICE( Rest, Ice, compression, Elevation) • Physiotherapy • Desmopressin ( Factor VIII only)

Factor Replacement • On demand therapy • Prophylaxis: Maintain factor level above 1% Requires infusion 2-3 times a week at a dose of about 20-40IU/Kg • Prophylaxis for Surgery and invasive procedures

INHIBITORS • Occur more commonly in Factor VIII deficiency • High and low titer levels • Immune tolerance may be used • Treatment is by use of passing agents: Activated Prothrombin Complex concentrate of Recombinant Activated Factor VII

NEW TREATMENT STRATEGIES • Increased half life of the products: PEGylation, Fc or albumin fusion( IX extended 3-6 times while VIII extended to 1.5 times • Agents that use alternative mechanisms to activate coagulation( emicuzumab)

New strategies • Gene Therapy: Studies ongoing for last 10 years • Changes severe to a mild phenotype • More successful with factor IX than VIII

KENYAN PERSPECTIVES • We expect to have at least 4,000 people with the condition in Kenya • Access to diagnosis and care quite limited • About 400 patients currently identified. • Government not buying factor concentrates. • There is ability to confirm diagnosis at KNH, MTRH and some private Laboratories

KENYAN PERSPECTIVES • Kenya Haemophilia Association(KHA) is a Patient/Parent/ Health workers association • Objectives: • Advocacy, • awareness creation • Improving access through training health care providers, facilitating acquisition of diagnostic equipment

Kenyan perspectives • Most of the factor we have is from Donations mainly from WFH. • We have extended half life products • Treatment available in KNH, MTRH, Coast Provincial hospital, Muranga County Hospital, • Upcoming clinic in Kisii county Hospital

Conclusion • Replacement of deficient clotting factor is the mainstay of therapy. • There are emerging therapies that will reduce need for frequent factor infusions • We still have huge gaps in the care of People living with Haemophilia in our country.

HAEMOPHILIA: What we know, future perspectives and the Kenyan Situation .