Primary hypertrophic osteoarthropathy


Primary hypertrophic osteoarthropathy

Description, Causes and Risk Factors:

Abbreviation: PHO.

Primary hypertrophic osteoarthropathy is a hereditary disease characterized by finger clubbing, periostosis, and skin thickening (pachydermia), coexisting with a variety of clinical manifestations including, among others, hyperhidrosis, joint pain, arthritis, cutis verticis gyrata, ptosis, and hypertrophic gastritis.

Primary hypertrophic osteoarthropathy represents approximately 5% of the total of hypertrophic osteoarthropathy, but its prevalence is unknown for the general population. It has a marked predominance in males and has familial aggregation in 25% to 38% of cases, being mainly autosomic dominant in nature. The main motives for consulting the physician are the skin and joint manifestations, as well as bone and joint pain, being the latter 2 the ones capable of inducing confusion when diagnosing the disease.

The etiopathogenesis of primary hypertrophic osteoarthropathy is unknown. A pathogenic role for vascular endothelial growth factor has also been suggested due to good responses to octreotide and the frequent finding of capillary endothelial hypertrophy in skin biopsies. Mutations in the gene coding for 15-hydroxiprostaglandin-dehydrogenase (HPGD) located on chromosome 4q33-4q34 and which would lead to high maintained concentrations of prostaglandin E2 (PGE2), a mediator in some processes involved in digital clubbing, skin thickening and periostosis, has recently been described. In addition, researchers found an increase in the concentrations of interleukin-6 (IL-6) and a deregulation of the osteoprotegerin/RANKL system.

Apart from elevated PGE2, Von Willebrand factor is a marker of platelet and endothelial activation. This suggests that the activation of endothelial cells and platelets play an important role in the pathogenesis of primary hypertrophic osteoarthropathy. VEGF promotes angiogenesis (growth of new blood vessels) and differentiation of osteoblasts, which can explain the clubbing and excessive fibroblast formation in primary hypertrophic osteoarthropathy patients. Other mediators found in increased concentrations in primary hypertrophic osteoarthropathy patients, include osteocalcin, endothelin-1, b-thromboglobulin, platelet-derived growth factor (PDGF) and epidermal growth factor (EGF). It has not been described yet what role these mediators have in primary hypertrophic osteoarthropathy.

At least 204 cases of primary hypertrophic osteoarthropathy have been reported so far. The precise incidence and prevalence of primary hypertrophic osteoarthropathy are still unknown. The age of onset is often in puberty.

Primary hypertrophic osteoarthropathy usually progresses for 5 to 20 years, until it becomes stable. Life expectancy may be normal, despite patients getting many functional and cosmetic disambiguation needed complications, including restricted motion, neurologic manifestations and leonine facies.

Symptoms:

Symptoms may include:

    Pachydermia.

  • Oily skin.

  • Leonine facies.

  • Eczema.

  • Coarse skin.

  • Thick hand and foot skin.

  • Furrowing.

  • Seborrheic hyperplasia.

  • Cutis verticis gyrate.

  • Increased secretion of sebum.

  • Periostosis.

  • Acroosteolysis.

  • Myelofibrosis.

  • Widening of bone formation.

  • Digital clubbing.

  • Thick toe and finger bones.

  • Hyperhidrosis.

  • Drooping eyelids.

  • Thick stratum corneum.

  • Arthralgia.

  • Joint effusion.

  • Muscle discomfort.

  • Decreased facial or pubic hair.

  • Peptic ulcer.

  • Chronic gastritis.

  • Crohn's disease.

Diagnosis:

The diagnosis is established from clinical and radiologicaldata. It is necessary to exclude secondary forms of hypertrophicosteoarthropathy, which are much more frequent (95% cases),especially those associated to lung neoplasiaand, to a lesser degree,to hepatic cirrhosis, cardiomyopathy, chronic obstructive pulmonarydisease, bronchiectasis, and some forms of cancer.

Imaging Tests May Include:

    CT scans (Computed Tomography).

  • MRI scans (Magnetic Resonance Imaging).

  • Nuclear Imaging (NI).

Treatment:

Non-steroidal anti-inflammatory (NSAIDs) drugs are employed as symptomatic treatment of joint and bone pain, and when refractory oligoarthritis is present, joint infiltration with steroids can be employed. There is no consensus about on background medication, but good results have been shown in isolated cases or series of patients with the following drugs: octreotide, colchicine, retinoids, tamoxifen citrate, and bisphosphonates. Colchicine and retinoids improved skin manifestations, while tamoxifen and bisphosphonates significantly alleviated musculoskeletal symptoms, especially joint and bone pain. The use of tamoxifen was based on a prior finding of overexpression of nuclear receptors for steroids, associated to reduced levels of cytosol receptors for androgens and progesterone, making the reduction of estrogen activity a therapeutic strategy in PHO. The administration of bisphosphonates has the objective of reducing the degree of bone remodeling, which is increased in the active stages of the disease. Plastic surgery is reserved for those patients with significant eyelid ptosis or those with severe aesthetic problems.

NOTE: The above information is educational 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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