Osteoporosis, a disease characterised by low bone mineral density (BMD) and bone injury, is a matter issue of increasing concern in people with haemophilia. In recent years, many studies have been conducted on this topic, primarily in adults, but also in younger patients.1

Pathological bone metabolism is considered to be a consequence of chronic inflammation related to recurrent bleeds, especially in joints, and the long periods of immobilisation that haemophilia patients are forced to endure.1 Although people with haemophilia are, nowadays, on prophylactic treatment from an early age – in order to minimise the number of joint bleeds – as the years go by, they may develop one or more target joints or suffer subclinical joint bleeds. In addition, in children with severe haemophilia who develop inhibitors, the clinical phenotype is exacerbated in terms of the number and severity of bleeds and the subsequent occurrence of arthropathy.1 Considering haemophilic arthropathy from a biochemical perspective, several studies have shown that patients with haemophilia have an altered balance in bone formation and resorption.1

Recently, peripheral quantitative computed tomography (pQCT) has been introduced as a highly specific and sensitive diagnostic technique to detect deterioration of bone microstructure, geometry, and strength.1

Peripheral quantitative CT gives detailed information not only on bone density, but bone geometry, size and strength, and may better predict skeletal fragility than bone density alone.2 In addition, pQCT has minimal radiation, is quick and can be used at all ages.2

In a recent study, children with haemophilia A were examined for the impact of their disease on bone structure by measurements obtained with pQCT.1 This is the first time that all four limbs have been examined with this technique in children with haemophilia, and side-to-side comparisons between limbs have been attempted. In addition, also for the first time, the effect of multiple bleeds on the bone structure and density of the target joints (radius or tibia) was studied and compared with other nontarget joints.1

The study concluded that in children with haemophilia Α and a history of target joints and/or Factor VIII inhibitors, abnormalities may occur in the joints but also in the long bones, as revealed by pQCT, where low trabecular density and weak cortical bone quality were found in the upper and lower extremities, respectively.1

Therefore, children with haemophilia may benefit not only from treatment with concentrates but also from targeted interventions such as exercise and daily lifestyle changes.1



  1. Xafaki P, Balanika A, Pergantou H, Papakonstantinou O, Platokouki H. Impact of target joint and FVIII inhibitor οn bone properties in children with haemophilia A: A peripheral quantitative computed tomography study. Haemophilia. 2018;00:1–7. https://doi. org/10.1111/hae.13591
  2. Vlok J, Simm PJ, Lycett K, et al. pQCT bone geometry and strength: population epidemiology and concordance in Australian children aged 11–12 years and their parents. BMJ Open 2019;9:63–74. doi:10.1136/ bmjopen-2018-022400
Back to news and insights


Learn more about the meaning of the words you read on this page and learn about the entire glossary on hemophilia.

The process by which the medicinal product passes from the point of administration into the plasma, by crossing biological membranes.

In the case of factor VIII, administration is via the intravenous route, which makes absorption immediate.

Phase of haemostasis during which the clot forms.

It is a complex process constituted by a number of biochemical reactions that follow one another according to a specific sequence and that involve a number of proteins, including clotting factors, thrombin and fibrinogen.

A pathological process consisting in a decrease in the amount of minerals (calcium, magnesium, phosphorus, etc.) contained in bone tissue. This mineral depletion weakens the bone and leads to a consequent increase in the risk of fractures.

The amount of minerals present in a square centimetre of bone.

A solid mass constituted by a clump of platelets held together by a mesh constituted by a protein called fibrin.

The function of the clot is to plug the opening that forms in the wall of a damaged blood vessel, in order to prevent blood loss.

Once the damage has been repaired, the clot is dissolved by specific mechanisms triggered by our body.

A group of proteins with enzymatic functions involved in the clotting process.

All clotting factors are assigned a Roman numeral, although each one also has a proper name.

Some are produced by the liver, whereas others are synthesised by the endothelial cells that make up the inner lining of the blood vessels.

A protein belonging to the clotting factor category, a group of enzymes involved in the blood-clotting process.

It is encoded by a gene on the long arm of the X chromosome.

Factor VIII is also known as anti-haemophilic factor (AHF).

A ereditary genetic illness, characterised by a deficiency of clotting factor VIII, that exposes the individual to a greater risk of both internal and external bleeds.

Haemophilia A is more common in males, whereas females tend to be healthy carriers of the condition.

The typical symptoms of the condition include haemarthroses (joint bleeds) and haematomas (muscle bleeds).

Damage that occurs in the joints and prevents their normal function, thereby impairing the individual’s ability to move normally. In haemophiliac patients, joint disease is usually the consequence of recurrent haemarthroses.

Condition that occurs when factor VIII activity is between 1% and 5%.

Condition that occurs when factor VIII activity is between 1% and 5%.

Pathological condition associated with severe bone mineral mass depletion that makes the bones frailer and more prone to fractures.

Condition that occurs when factor VIII activity is <1%.