Marie-Bamberge disease


Marie-Bamberger disease

Description, Causes and Risk Factors:

Marie-Bamberger disease also known as pulmonary hypertrophic osteoarthropathy, chronic pulmonary osteoarthropathy, generalized hypertrophic osteoarthropathy, secondary pulmonary osteoarthropathy.

The etiology of Marie-Bamberger disease is unknown. One possibility is that platelets, or the predecessor to platelets known as megakaryocytes (which break up into many, many platelets), get out to the ends of the extremities and becomes activated there. That activation can release growth factors such as platelet-derived growth factor (PDGF), which is also known as fibroblast growth factor and can lead to abnormal tissue growth in that area.

Another theory is that a factor like vascular endothelial growth factor (VEGF), which is the target of avastin (bevacizumab), may produce this response. There have been rare case reports of patients with Marie-Bamberger disease who have also had very high blood levels of VEGF, and in one case the resolution of symptoms corresponded with a rapid drop in VEGF levels after surgery to remove the lung cancer.

Several other mechanisms have been proposed as contributing to the pathophysiology of Marie-Bamberger disease. Paraneoplastic growth factors like prostaglandin E, other cytokines, neurologic, hormonal, and immune mechanisms and vascular thrombi caused by platelets and antiphospholipid antibodies have all been proposed as possible etiologies. All or at least many probably contribute to its development in the different clinical situations. A popular current theory involves the interaction between activated platelets and the endothelium.

The most important of these mechanisms results from the fact that many circulating signaling molecules and growth factors are normally cleared from the blood by the pulmonary endothelium. Normally, platelets are fragmented in the pulmonary microvasculature before they reach the general circulation. In 1987, Dickinson and Martin suggested that Marie-Bamberger disease is related to the presence of megakaryocytes and many circulating factors normally inactivated by the lungs that have bypassed the lung circulatory network and lodged in the fingertip circulation. This has been been proven in patients with cyanotic heart diseases that have been found large circulating platelets with abnormal and, at times, bizarre morphology. Those macrothrombocytes are responsible for the aberrant platelet volume distribution curves.

Recently, the role of different cytokines and cell receptors, including IL-6 and osteoprotegerin or RANKL system have been described on the development of the disease. Higher serum levels of IL-6 and RANKL (receptor activator of nuclear factor kappa-B ligand) are associated with increased values in markers of bone resorption (degradation products of C-terminal telopeptides of type-I collagen and urinary hydroxyproline/creatinine ratio) and reduced serum levels of bone alkaline phosphatase, a marker of bone formation, suggesting that hypertrophic osteoarthropathy is characterized by increased bone resorption, probably mediated by IL-6 and RANKL.

Pathogenesis underlying the increase involved of males in hypertrophic osteoarthropathy is been described by Bianchi et al, which proposed high levels of nuclear steroid receptors, increased cytosolic estrogen receptors, and no detectable progesterone and androgen cytosolic receptors in hypertrophic osteoarthropathy, suggesting increased tissue sensitivity to different circulating sex steroids, which could enhance tissue epidermal growth factor or transforming growth factor alpha production and use.

Marie-Bamberger disease can be associated with pregnancy and aging secondary to platelet abnormalities, hormonal disturbances, and cytokine dysfunction.

Increased plasma levels of several substances, such as endothelin-1, ?-thromboglobulin, platelet-derived factor, von Willebrand factor (vWF), and vascular endothelial factor have been found in patients with pachydermoperiostosis (PDP) and primary hypertrophic osteoarthropathy (PHO). Mutations in 15-hydroxyprostaglandin dehydrogenase has been linked to be associated with PDP. 15-hydroxyprostaglandin dehydrogenase is the main enzyme of prostaglandin degradation. Homozygous individuals with this mutation show elevated levels of prostaglandin E2 and its metabolite, PGE-M.

Enhanced Wnt genetic signaling contributes to the development of pachydermia skin changes in primary hypertrophic osteoarthropathy by enhancing dermal fibroblast functions.

The Marie-Bamberger disease syndrome affects individuals of all races, with equal male-to-female distribution. The most common age group corresponds with the peak of lung cancer (55 to 75 years). In adulthood, it is commonly associated with non-small cell lung cancer and mesothelioma. It is more common with large central tumors than peripheral tumors, with no predilection for cell type. Marie-Bamberger disease is also associated with pulmonary metastases from extrathoracic neoplasms such as bone and soft tissues sarcomas and, to a lesser degree, tumors of the nasopharynx, uterus, and cervix. HPOA is rare in children, usually associated with lung metastasis from osteogenic sarcoma.

Symptoms:

Marie-Bamberger disease commonly affects joints of distal interphalanges and long bones. The onset of its clinical presentation varies according to the evolution of the underlying lung cancer. These joints become tender, red, warm, swollen, and restricted in range of movement. Marie-Bamberger disease may occasionally precede the appearance of constitutional and respiratory symptoms by several months.

Common Symptoms:

    Clubbing of fingers and toes, degree of severity varies, the light only to see the curved nail mild change, and might showed a typical drumstick-shaped.

  • Joint symptoms, joint pain, swelling of the limbs, most commonly in the forearm and lower limbs. More persistent pain, joint tenderness, swelling, and subcutaneous nodules but rare.

  • Chronic lung disease manifestations such as chronic bronchitis, emphysema, lung cancer, bone disease before the disease appears often in the lungs, such as lung cancer.

  • Clinical signs according to medical history, laboratory tests and other laboratory examinations can be diagnosed.

Diagnosis:

When considering a diagnosis of Marie-Bamberger disease also take into account congenital syphilis, diaphyseal dysplasia (Camurati-Engelmann disease), infantile cortical hyperostosis, Caffey disease, and hypervitaminosis A. Also consider acromegaly, thyroid acropachy, venous stasis, endosteal hyperostosis (van Buchem disease), macrodystrophia lipomatosa, Proteus syndrome, Paget disease, and fibrous dysplasia.

Plain radiography is the mainstay of radiology-aided diagnosis, although the exact sensitivity of plain radiography is unknown. Nuclear medicine studies reveal early evidence of disease; its sensitivity is greater than that of other modalities. The role of magnetic resonance imaging (MRI) is currently exploratory; information regarding its use is anecdotal. CT scanning is useful in elucidating the cause of Marie-Bamberger disease such as intrathoracic pathology or infected vascular grafts.

Treatment:

To date, there is no known cure for Marie-Bamberger disease associated with lung cancer. Nonsteroidal anti-inflammatory drugs (NSAIDs) may be helpful in providing pain control. Atropine (chemical vagotomy) and antitumor chemotherapy have been used as temporary symptomatic relief. In patients with Marie-Bamberger disease, tumor resection often results in improvement of symptoms within 2 to 4 weeks and, sometimes, complete resolution by 3 to 6 months. Surgical vagotomy from a cervical, mediastinotomy, or thoracotomy approach has been reported with varying degrees of success. Systematic review of the literature had not identified VATS (Video-assisted thoracic surgery) as an access for this indication. VATS has long been established as a simple and safe procedure. It is also thought to be less invasive compared with the mediastinal and cervical approaches.

In conclusion, VATS access should be considered to perform the truncal vagotomy in these highly selected patients who have symptoms of Marie-Bamberger disease associated with inoperable lung cancer. Patient referral for pain relief by rheumatologists and chest physicians should be encouraged.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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