Rare Inherited Clotting Factor Deficiencies in Paediatric Population Single Tertiary Centre Experience in Saudi Arabia

BACKGROUND

The rare coagulation disorders are heritable abnormalities of hemostasis that may present significant difficulties in diagnosis and management to hemophilia center clinicians. The common feature shared by these disorders is that their overall population frequency is low (with the exception of factor XI deficiency). Consequently, diagnosis and monitoring of affected individuals may require specialist phenotypic and molecular investigations that are not widely available. There may be considerable inter-individual variation in bleeding phenotype amongst affected individuals resulting at least in part from the molecular heterogeneity of the rare coagulation disorders. The bleeding risks in affected individuals may therefore be difficult to assess. Coagulation factor support may require the prescription of unlicensed treatment products that are not readily available. Although the rare coagulation disorders are uncommon, most hemophilia centers will have a handful of individuals with one or more disorders. Some centers may have significant number of affected individuals because of the prevalence of these disorders in populations in which consanguineous marriage is common.

AIMS

To determine the prevalence, clinical profile and treatment outcome of Rare Bleeding Disorders (RBD) in pediatric patients seen at King Faisal Specialist Hospital and Research Centre, Saudi Arabia from 2005-2014

METHODS

We are presenting results of a descriptive study where we retrospectively reviewed the charts of the pediatric patients with RBD treated at our facility from 2005 to June 2014.

RESULTS

Of 39 pediatric (≤14 years) patients profiles reviewed, 54%(21) were females. Median age at diagnosis was 5 years (0.1-14). 78.4% (29/37) had a positive family history of RBD and 96% (24/25) parents with consanguineous marriages. Family history of RBD was most common in Factor XIII deficiency (31%) followed by Factor II (24.1%). Factor XIII deficiency was seen in 15 cases (38.5%), followed by Factor II Deficiency in 7 (17.9%) and Factor VII in 6 (15.4%). 4% (1/25) were found to be HBsAg positive. Hepatitis C screening was done in 66.7%, all (26) were negative. Umbilical cord bleeding was the most common bleeding (8/14, 57%) followed by circumcision bleeding (7/18, 38.9%) seen in patients at their first visit to the physician. 47.4% (9/19) had post-trauma bleeding with 42.1%(8/19) as spontaneous. While on follow-up, 12.8% (5/39) needed at least one blood transfusion and 5.1% (2/39) received at least one platelets transfusion. 47.4% (9/19) had episode of ecchymosis, while one had muscle bleed and two intra-cranial hemorrhage. Six (6) ICU admissions were recorded. Developmental delay was seen in 2 cases. Treatment modality included FFP (64.7%), tranexamic acid (44.4%) and iron supplementation (25.7%). One received hormonal contraceptives. One female patient with FVII died of abdominal hemorrhage four years after the diagnosis. All remaining patients in the cohort were alive at the time of last update to the data set.

CONCLUSION

In Saudi Arabia, the RBDs are uncommon coagulation problems probably due to under diagnosis of the patients living in remote areas. However in our cohort of pediatric patients, FXIII was the most common RBD presenting with serious bleeding manifestations. Precise knowledge about RBDs, their clinical presentation, diagnostic work-up and treatment options is vital to accurately diagnosing these patients and providing optimal treatment in pediatric patient population.