Hypertrophic osteoarthropathy

Hypertrophic osteoarthropathy, OAH, Bamberger-Marie osteoarthropathy, Bamberger-Marie disease, Pierre-Marie-Bamberger syndrome or simply Marie's disease, formerly called hypertrophic pulmonary osteoarthropathy is an osteoarticular syndrome characterized by the triad clubbing (abnormal growth and thickening of the fingers), joint pain, and periostosis of the distal long bones of the extremities. It can also be accompanied by pachydermia.

History

Pulmonary hypertrophic osteoarthropathy was first described in 1890 by the French neurologist Pierre Marie (1853-1940). Together with the German chemist Eugen von Bamberger, he had investigated Hippocrates' claim that lung pathologies caused skeletal changes. The discovery of this disease was the verification of the Greek theory, and for this reason the disease bears the name of both, and clubbing fingers, that of the Greek doctor: digital clubbing or Hippocratic fingers.

Classification

Hypertrophic osteoarthropathy can be primary when it occurs without association with another pathology, or secondary when it appears as a manifestation before or after any of the diseases with which it has been associated. associated.

Primary hypertrophic osteoarthropathy, also called primary pachydermoperiostosis, has a familial hereditary factor and presents as a chronic condition. 3 forms of OHP are described:

• A complete with pachydermy and periostitis.
• An incomplete with bone abnormalities but without pachydermy.
• A frustrate with prominent pachydermy with minimal or no bone change.

Secondary hypertrophic osteoarthropathy is associated with other diseases and has a relatively faster evolution.

Epidemiology

Primary hypertrophic osteoarthritis is a rare disease. It has a sex-linked hereditary predisposition, with a clear predominance in men, with a male:female ratio of 9:1. It is evident from childhood or adolescence. It represents between 3 and 5% of all hypertrophic osteoarthropathy.

Secondary hypertrophic osteoarthropathy presents incidences by sex related to the epidemiology of the associated disease. It is rarely seen in children or adolescents; the most common presentation interval is between 55 and 75 years.

From 1 to 10% of cases of hypertrophic osteoarthropathy present with one or more lung tumors. They are also found in association with lung metastases from other tumors or with tumors of the pleura (typically mesothelioma). 90% of OAH cases present with malignant or benign tumors of the lung or other parts of the chest.

Etiology

Primary hypertrophic osteoarthropathy is also known as primary pachydermatosis or Touraine-Solente-Godé syndrome. It is an autosomal dominant disease and is believed to be recessive as well, strongly associated with males (male-female ratio 9:1).

The etiology of secondary hypertrophic osteoarthropathy is unknown. However, its association with multiple heart, lung, abdominal and oncological diseases, mainly lung cancer, has been demonstrated. In fact, of all patients with small cell lung cancer, between 1 and 5% develop OAH as a paraneoplastic syndrome.

Other tumors may also be accompanied by OAH: acute myeloid leukemia, nasopharyngeal carcinoma, thoracic lymphoma, esophageal leiomyoma, and thyroid carcinoma. The mechanism by which tumors trigger osteoarthropathy is unknown.

OAH can be seen in infectious processes such as aortic bypass infection.

Some forms of Marie's disease are associated with chronic emphysema, cystic fibrosis, or chronic inhalation diseases: silicosis, hydrocarbons, volcanic ash, etc.

Pathogenesis

Several pathogenic mechanisms have been proposed that could contribute to the development of the disease:

• Increased fibroblast activity by greater activation of Wnt protein mediated signal pathways.
• Increased vascular endothelial growth factor (VEGF, English).
• Excessive production of prostaglandin E2.

Clinical picture

Acropaquia or fingers in drumstick

The syndrome is characterized by splaying of the fingers and toes (often without hypoxia) and pain in the joints and bones of the extremities.

In primary hypertrophic osteoarthropathy and in the slow forms of secondary hypertrophic osteopathy, the clinical picture is not very noticeable and is generally asymptomatic. It usually begins after adolescence but some symptoms may appear in childhood or adolescence. Its severity development can last between 5 to 10 years, after which it usually remains stable for life. These patients rarely consult for their symptoms, since the changes are gradually assumed to be part of their personal image. The most frequent reason for consultation is pain in the knee or ankle joints, and in some cases due to the intense thickening of the face and facial furrows. For the hereditary form, which corresponds to between 25% and 38% of In these cases, other conditions are associated in a variable way: cutis verticis gyrata, seborrhea and palpebral ptosis.

In secondary hypertrophic osteoarthropathy, the symptomatic triad presents more quickly, and inflammatory lesions of the joints and long bones predominate, presenting as arthritis, with painful symptoms that accentuates during the day and with activity. This clinical picture usually precedes by several months the appearance of other general symptoms that accompany the primary disease (fatigue, fever, weight loss) or respiratory symptoms (cough, hemoptysis, chest pain, dyspnea). The age of onset occurs between 30 and 70 years. The changes in the bone are the most noticeable finding, it develops quickly and is painful. Skin changes are usually minor or absent. All these alterations disappear if the primary disease is healed.

Hypertrophic osteoarthropathy can be confused with other clubbing (thickening of the ends of the bones), also called clubbing fingers or clubbing fingers. Both present with subperiosteal bone growth or periostitis (inflammation of the periosteum) of the long bones, metacarpals, metatarsals, and phalanges.

Unlike simple clubbing, it may have several or all of the following features:

• New periostio formation in the distal ends of the members.
• ankles, knees, wrists and elbows with changes that recall those produced by arthritis. These changes are always symmetrical and affect both the joints themselves and the surrounding tissues.
• Surrounded by wrinkles, with thick and heavy features. This is due to abnormal growth in the subcutaneous cell tissue of the face. The same applies to soft tissues of arms and legs.
• Chronic erythema in arms and legs, paresthesia and sweating, often accompanied by other pathological neurovascular changes.
• Pain, an exclusive characteristic of the OAH, as the common acropaquias are usually indolorous.

Differential diagnosis

Although new periosteal growth is considered the "signature" OAH personnel, their mere presence is not enough to make a diagnosis. periosteum completely unrelated to OAH. Similarly, clubbing may or may not be present, blurring and complicating clinical diagnosis.

This variability of signs and symptoms is the reason why OAH is often diagnosed through studies aimed at diagnosing or treating other pathologies. Therefore, only the correct clinical history and a complete physical examination can result in a proper diagnosis.

Patients report distal musculoskeletal pain, although discomfort may include the temporomandibular joint, clavicles, and shoulders. Paresthesias, excessive sweating, hot flashes, and distal erythema are relatively common. Some cases may present moderate gynecomastia. Symptom progression is insidious, and may precede radiological confirmation of shin splints by months. Some joints may present limited movement, due to frequent synovial effusions.

Neither blood nor synovial fluid analysis have diagnostic utility: no deviations from normal values are observed in them.

The differential diagnosis of OAH with respect to other diseases with which it could be confused is the following:

• Rheumatoid arthritis: Rheumatoid arthritis does not present periostitis, and the synovial fluid is not normal but inflammatory.
• Acromegalia: The radiological image does not show periostistic but acromeglylic changes: generalized osteophytes—especially in distal phalanges—and widening of the Turkish chair of the sphenoids.
• Systemic sclerosis: Painful induration of hands and feet, without radiological image of periostitis.
• Dermatomyositis and polymyositis: They do not have acropsy or radiological signs of periostitis.
• Acute leukemia: While there may be joint infiltration and inflammation of periarticular tissues, acropachic changes and the radiological image of periostitis are absent.
• Lower limb swelling: They usually present thrombophlebitis, mixedema and venous stasis, absent in the OAH.
• Leg pains: They are cured with pneuma and/or Paget disease, absent in osteoarthropathy.

Diagnosis

The radiological image of periostitis shows tubular bones provided with a thin sclerotic line, separated from the cortex by a radiolucent band. The affected bones are the ulna, radius, tibia and femur. Pathologic changes to the ribs, shoulder blades, clavicles, and mandible are rare.

When performing an isotopic scintigraphy with technetium 99 pyrophosphate, it is observed that the radionuclide is concentrated in the periosteum, because it tends to cluster in areas where osteoblasts grow. If this does not occur, OAH can be ruled out.

Treatment

Since the cause of this disease is usually the presence of a malignant tumor in the chest, the symptoms partially or completely subside when the tumor is properly treated. Thus, surgery, chemotherapy and radiotherapy often achieve excellent results. Likewise, the symptoms respond well to treatment with non-steroidal anti-inflammatory drugs.

Forecast

Adequate treatment of the cause —in secondary OAH— causes the regression of the symptoms when treating the primary pathology (cancer, fibrosis, silicosis, etc.). Hereditary OAH generally has a good prognosis.

Other eponymous diseases

Marie's disease should not be confused with the following eponyms:

• Anartria de Marie, inability to speak in people with focal brain injuries.
• Ataxia de Marie, hereditary disease that causes cerebellum atrophy.
• Marie-Strümpell encephalitis: Acute pediatric hemiplejia.
• Charcot-Marie-Tooth disease, a syndrome characterized by progressive weakening of the distal muscles of arms and legs, framed between hereditary sensoriomotric neuropathies.
• Marie's pituitary disease: chronic pathology produced by an adenoma of hypophysis. It causes hypersecration of growth hormone with the consequent lengthening of the bones.
• Marie-Foix maneuver and reflection: manipulation intended to produce a bending reflection in the joints of the lower limb, sign of high neuronal lesions.
• Marie's cross-learning reflex: Contralateral aductive reflex.
• Marie-Foix-Alajouanine: Ataxia cerebelosa del anciano, associated with alcoholism.
• Marie-Léri Syndrome: Deformities of hands by osteolysis of the upper finger joints.
• Schauthauer-Marie-Sainton Syndrome: A fairly common bone anomalía, characterized by its many symptoms.