A new study published in the journal Blood Coagulation & Fibrinolysis, looked at the impact of hereditary factor X deficiency (HFXD) on patients and caregivers in the United States. HFXD is an ultra-rare bleeding disorder that occurs in approximately 1 in 500,000 to 1 in a million people globally.
People with this condition can experience a wide range of bleeding symptoms that range from mild to severe. Symptoms can include nose bleeds, easy bruising, bleeding after trauma or surgery. Joint bleeds, excessive umbilical cord bleeding, and intramuscular bleeds can also occur.
HFXD is also linked to a high risk for intracranial hemorrhaging in infants. Females often experience additional symptoms and complications including heavy menstrual bleeding, first trimester miscarriage, and post-partum hemorrhaging
The online survey was open to patients with HFXD and/or their caregivers in the United States from October 2021 through June 2022. Survey questions were designed to shed light on patient/caregiver experiences with diagnosis, bleeding episodes, treatment, and the effect of the disease on their quality of life (Qol). A total of 30 and 38 people completed the patient and caregiver surveys respectively.
76% of patient responders indicated that they were either diagnosed at birth or in early childhood after a bleeding episode. The majority were diagnosed within three months of the initial symptoms, while a minority (7%) received a diagnosis 12 months or more after the first symptoms. Overall, 23% of patients and 26% of caregivers reported that the path to diagnosis was somewhat/very difficult.
“Often, manifestations of severe HFXD are observed in early childhood and patients may present with spontaneous life-threatening hemorrhage during the first month of life, explained the authors. “Patients with milder deficiencies may experience a delay in diagnosis. Perhaps attributable to these delays, one in four patients surveyed found the diagnostic process somewhat/very difficult.”
The majority of patients (77%) indicated that they receive care at a hemophilia treatment center. The most often used therapies were single factor replacement (53%), fresh frozen plasma (27%), and oral contraceptives (13%). These therapies were used either as stand-alone treatments or in combination. Bleeding episodes were less frequent in patients using single factor replacement vs an alternative therapy.
Bleeding episodes were prevalent with 63% of patients experiencing one-to-three bleeds within just four weeks of survey completion. Easy bruising/hematomas, along with bleeding into muscles and joints were the most commonly reported symptoms. While some of these bleeds were caused by trauma others were spontaneous bleeding events.
All patients indicated some degree of satisfaction with their current treatments to control bleeding and improve their quality of life. However, patient respondents perceived a relatively poorer well-being overall relative to the general population. Caregivers reported that they were satisfied at least some of the time with how treatments helped control bleeding in the patients under their care, while 58% reported satisfaction all of the time.
“Even with the advances in treatment options, management of HFXD could be improved through earlier diagnosis, earlier initiation of treatment, and optimization of medical management, which may lead to better QoL and wellbeing for both patients and caregivers,” explained the authors.
The lead author of the paper is Brian Branchford, MD, with the Versiti Medical Sciences Institute, Medical College of Wisconsin in Milwaukee. Dr. Branchford is a former recipient of the NHF (now NBDF) -Takeda Clinical Fellowship.
Branchford and his co-authors empathized the value of a patient-reported outcome (PRO) focus in such a rare condition.
“Overall, the HFXD in America Survey provides the first PRO-focused glimpse of disease burden and insight into significant diagnosis and treatment gaps that negatively impact the HFXD community, concluded the authors. “Opportunities to collect data over the course of several years may add further to our understanding of this rare coagulation disorder.”
Access this link to read the full article and learn more about the study design, results, and limitations.
Supplemental Resources-
- Learn more about the resources and educational opportunities available to individuals affected by rare and ultra-rare bleeding disorders
- Read Factor X (FX) Deficiency: You Are Not Alone
- Learn more about the NBDF-Takeda Clinical Fellowship Program
Citation
Branchford, Briana; Clark, Kimb; Stanford, Richard H.c; Garner, Denise A.d; Huang, Shirley P.c; Wolford, Ericb. Hereditary factor X deficiency in America survey: impact on quality of life and burden of disease in patients and caregivers. Blood Coagulation & Fibrinolysis ():10.1097/MBC.0000000000001275, February 22, 2024. | DOI: 10.1097/MBC.0000000000001275
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