Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0235886 (leg edema)
 674 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary pulmonary hypertension (PPH) is a condition characterized by sustained elevation of pulmonary artery pressure (PAP) without demonstrable cause. The most common symptom at presentation is dyspnea. Other complaints include fatigue, chest pain, syncope, leg edema, and palpitations. Right heart catheterization is diagnostic, showing a mean PAP >25 mmHg at rest and >30 mmHg during exercise, with a normal pulmonary capillary wedge pressure. In the National Institutes of Health-PPH registry, the median survival period was 2.8 years. Treatment is aimed at lowering PAP, increasing cardiac output, and decreasing in situ thrombosis. Vasodilators have been used with some success in the treatment of PPH. They include prostacyclin, calcium-channel blockers, nitric oxide and adenosine. Anticoagulation has also been advised for the prevention of deep vein thrombosis, pulmonary embolism, and in situ thromboses of the lungs. New drug treatments under investigation include L-arginine, plasma endothelin-I, and bosentan. Use of oxygen, digoxin, and diuretics for symptomatic relief have also been recommended. Patients with severe PPH refractory to medical management should be considered for surgery.
 ...
PMID:Primary pulmonary hypertension. 1172 93

Blau syndrome is a rare disorder that is classically characterised by granulomatous arthritis, skin eruptions and uveitis, which occur in the absence of lung involvement. Blau syndrome has been linked to encoding mutations in the NOD-2 gene and is inherited in an autosomal dominant form. The most commonly observed mutations are missense substitutions affecting the arginine residue at position 334. The rare E600A mutation has been described as causing uveitis without skin involvement. Our patient is a 54-year-old man with an unusual heterozygous c.1799A>C(E600A) mutation, who was seen for bilateral lower extremity swelling and pain. On physical examination, he was found to have lower leg oedema with decreased hair growth on the affected area. Biopsy showed non-caseating micro-granulomas consistent with a diagnosis of Blau syndrome. The patient had excellent response to colchicine, but this was stopped because he developed elevated transaminases. Thus, we present an unusual genetic form of a rare condition and we demonstrate skin involvement in a subtype where cutaneous involvement has not hitherto been reported. In addition, the type and presentation of the skin involvement is different from that normally found in classic Blau syndrome. Finally, we report his response to colchicine, although it was ultimately not tolerated by this patient.
 ...
PMID:Granulomatous skin involvement in a patient with an unusual NOD2 mutation. 2676 19