Marble Bone Disease: Symptoms and Treatment Options for Osteopetrosis

The marble bone disease, also known as osteopetrosis, is an extremely rare and unique genetic condition characterized by the pathological thickening of bones. The essence of the disease is that the mineral content of bone tissue, particularly calcium, significantly increases, causing the bones to appear white like marble on X-rays. The underlying cause of this condition is a decrease in the number or dysfunction of bone-resorbing cells, namely osteoclasts. The appearance and course of this disease have often sparked scientific interest, but descriptions made for the sake of popularization often contain exaggerations.

Writings and films about marble bone disease frequently fail to convey the true severity and consequences of the condition. Below, we will discuss the main types, symptoms, and treatment options for marble bone disease.

Late-onset Osteopetrosis (Albers-Schönberg Disease)

Late-onset osteopetrosis, also known as Albers-Schönberg disease, is a dominantly inherited condition that leads to the thickening of bones and an increased risk of fractures. The disease was first described by a German radiologist, and symptoms typically appear in childhood, adolescence, or early adulthood. However, it is not uncommon for the disease to progress asymptomatically, so in many cases, it is only discovered accidentally during X-rays performed for other reasons.

The most characteristic symptoms of marble bone disease include frequent bone fractures and complications related to tooth extraction, which arise from the increased rigidity of the bones. The disease can also affect the shape of the face, and in certain cases, facial nerve paralysis may occur. This usually happens when the pathological thickening of the skull exerts pressure on the nerve. Affected individuals generally have average mental functions and life expectancy, but the course of the disease and the appearance of symptoms can vary from person to person.

Early-onset Osteopetrosis

Early-onset osteopetrosis is a relatively rare form of the disease that typically manifests in infancy. Unfortunately, the course of the disease is more severe and often leads to death. Infants have extremely rigid bones, which can easily fracture even with the slightest impact. Additionally, due to abnormalities in the optic nerve and retina, blindness is also common.

Symptoms of the disease include inadequate physical growth and growth disorders. Anemia is also common, resulting from the abnormal functioning of the bone marrow. This disorder is associated with a decrease in blood cell production, which can lead to abnormal bleeding and easily formed bruises in children. Such conditions often arise from the narrowing of the bone marrow cavities, caused by increased ossification. Death typically occurs due to blood loss resulting from bleeding, severe infections, or the anemia itself. Unfortunately, the prognosis for early-onset osteopetrosis is generally unfavorable, with death often occurring within the first year of life.

Treatment of Marble Bone Disease

The treatment of marble bone disease currently poses serious challenges, as there is no known causal therapy to eliminate the disease. The goal of treatment is to alleviate symptoms and prevent complications. Surgical interventions often become necessary, especially to reduce increased pressure. The most common procedure is decompression surgery, during which the affected nerves, usually the facial nerve, are relieved from pathological pressure. This operation can help alleviate the characteristic facial expression problems.

Additionally, it may be necessary to correct increased intracranial pressure caused by the deformity of the skull bones. Increased bone growth and thickening can also cause misalignment during chewing, which can be addressed with oral surgical interventions.

Alongside surgical treatments, psychological support can play an important role, as the facial deformities caused by the disease can result in significant psychological trauma for children, affecting their quality of life later on. In some infants, surgical interventions have yielded particularly good results, but the long-term outcome and further course of the disease remain uncertain.