Female Carriers Show High Rates of Bone Disorders in Large Study

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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Osteoporosis and other bone disorders are more common in hemophilia carriers than in the general population, according to an analysis of U.S. insurance data.

Its researchers also found a higher rate of bone problems among people with von Willebrand disease (VWD), another inherited bleeding disorder.

“This study highlights the need for Haemophilia Treatment Centres to focus on the bone health in these patients and pay closer attention to other risk factors during their routine comprehensive visits,” the scientists wrote.

The study, “Bone health in haemophilia carriers and persons with von Willebrand disease: A large database analysis,” was published in the journal Haemophilia.

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Problems with bone health are common among hemophilia patients. Nevertheless, few scientific studies have focused on rates of bone-related health problems among hemophilia carriers or people with VWD. Carriers are women with a hemophilia-causing mutation on one of the two female X chromosomes.

To learn more, a trio of scientists in the U.S. analyzed insurance data collected from 1999 to 2020. From a database with information on more than 70 million people, they identified 940 hemophilia carriers and 19,580 people with von Willebrand disease. Among carriers, 60 (6.5%) were children under age 18, 520 (55.5%) were 18 to 50 years old, and 360 (38%) were age 51 or older.

The scientists then looked at the rates of bone health issues in these individuals, relative to people without either carrier status or VWD as a control group.

“While the focus has been on bone health in severe haemophilia, there is paucity of data in nonsevere haemophilia, [hemophilia carriers] and [people with VWD],” the researchers wrote.

Specifically, researchers assessed the prevalence of osteoporosis and osteoarthritis, as well as bone fractures. Osteroporosis is a condition where bones become weak and brittle, while osteoarthritis develops when the cartilage that cushions joints wears down, causing bones to rub against each other.

Since all of these conditions become much more common in the later decades of life, researchers distinguished when their analysis was restricted to individuals under age 50 or involved entire study groups.

Results showed that, compared with 38.3 million females serving as controls, hemophilia carriers of all ages had significantly higher rates of osteoporosis (6.4% vs. 3.5%), osteoarthritis (25.5% vs. 10.7%), and bone fractures (11.7% vs. 5.8%). Significantly higher rates for all three conditions also were found in both males and females with VWD, compared with their respective sex-matched controls.

“Our study confirms that [hemophilia carriers] have a higher prevalence of osteopenia [bone mass loss], osteoporosis and fractures … potentially corroborating the findings of subclinical bleeding and its potential effects on bone and joint health” in these women, the scientists wrote. 

Findings were similar among people with VWD, “with significantly higher rates of fractures, osteoporosis, [and] osteopenia,” they added.

Further analysis found nine risk factors associated with poor bone health were also significantly higher in hemophilia carriers and VWD patients relative to controls, particularly among those with diagnosed bone health problems. These risk factors included obesity, smoking, vitamin D deficiency, and corticosteroid and non-steroidal anti-inflammatory drug (NSAID) treatments. The only risk factor not significantly higher among carriers was kidney failure.

“[Hemophilia carriers] and [people with VWD] are at increased risk for osteoporosis, osteoarthritis, fractures, with a higher frequency of risk factors for poor bone health,” the researchers wrote.

The team noted that, while the large database used is a study strength, an insurance database may not accurately reflect clinical data.

“Further prospective, multi centre studies are necessary to validate these findings,” they wrote.