These blood vessels sometimes leak, and these retinal hemorrhages may lead to the loss of central vision. Vision loss is a major issue in many PXE patients.PXE may affect the gastrointestinal and cardiovascular systems. Gastrointestinal bleeding is a rare symptom and usually involved bleeding from the stomach. In the circulatory system, intermittent claudication, a condition in which cramping pain in the leg is induced by exercise, is a prominent feature. At later stages, coronary artery disease may develop, leading to angina and myocardial infarction (heart attack). Cerebral ischemia in PXE is caused by small vessel occlusive disease. Other rare neurological complications may include intracranial aneurysms, subarachnoid and intracerebral hemorrhages. Genetics
80% of clinical cases of pseudoxanthoma elasticum have detectable mutations in the ABCC6 gene. Mutations in almost all parts of the gene have been described, of all types (missense, nonsense, splice alteration, insertion, small deletion or large deletion). Although there have been reports of autosomal dominant inheritance, the inheritance is typically autosomal recessive (both parents need to be carriers, and there is a 25% chance that a child will inherit both abnormal copies of the gene and therefore develop the condition).Strong genetic linkage was found with mutations in the ABCC6 gene, which codes for the ABCC6 protein, which is a membrane transporter from the large ATP-binding cassette transporter family. The protein is expressed in most organs, but mainly in the liver and kidney. ABCC6 mediates ATP release in the liver.
A review reporting the incidence of illnesses associated with Ludwig angina found that 18% of cases involved diabetes mellitus, 9% involved acquired immune deficiency syndrome, and another 5% were human immunodeficiency virus (HIV) positive. Diagnosis
Infections originating in the roots of teeth can be identified with a dental X-ray. A CT scan of the neck with contrast material is used to identify deep neck space infections. If there is suspicion of the infection of the chest cavity, a chest scan is sometimes done.Angioneurotic oedema, lingual carcinoma and sublingual hematoma formation following anticoagulation should be ruled out as possible diagnoses. Microbiology
There are a few methods that can be used for determining the microbiology of Ludwigs angina. Traditionally, a culture sample is collected although it has some limitations, primarily being the time-consuming and sometimes unreliable results if the culture is not processed correctly. Ludwigs angina is most often found to be polymicrobial and anaerobic. Some of the commonly found microbes are Viridans Streptococci, Staphylococci, Peptostreptococci, Prevotella, Porphyromonas and Fusobacterium. Treatment
For each patient, the treatment plan should be consider the patients stage of infection, airway control, and comorbidities. Other things to consider include physician experience, available resources, and personnel are critical factors in formulation of a treatment plan. There are four principles that guide the treatment of Ludwigs Angina: Sufficient airway management, early and aggressive antibiotic therapy, incision and drainage for any who fail medical management or form localized abscesses, and adequate nutrition and hydration support.