Peripheral artery occlusive disease (obstruction of the arteries of the legs) occurs mainly in people with FH who smoke; this can cause pain in the calf muscles during walking that resolves with rest (intermittent claudication) and problems due to a decreased blood supply to the feet (such as gangrene). Atherosclerosis risk is increased further with age and in those who smoke, have diabetes, high blood pressure and a family history of cardiovascular disease. Diagnosis
Approximately 85% of individuals with this disorder have not been diagnosed and consequently are not receiving lipid-lowering treatments. Physical examination findings can help a physician make the diagnosis of FH. Tendon xanthomas are seen in 20-40% of individuals with FH and are pathognomonic for the condition. A xanthelasma or corneal arcus may also be seen. These common signs are supportive of the diagnosis, but are non-specific findings. Lipid measurements
Cholesterol levels may be determined as part of health screening for health insurance or occupational health, when the external physical signs such as xanthelasma, xanthoma, arcus are noticed, symptoms of cardiovascular disease develop, or a family member has been found to have FH. A pattern compatible with hyperlipoproteinemia type IIa on the Fredrickson classification is typically found: raised level of total cholesterol, markedly raised level of low-density lipoprotein (LDL), normal level of high-density lipoprotein (HDL), and normal level of triglycerides. Total cholesterol levels of 350–550 mg/dL are typical of heterozygous FH while total cholesterol levels of 650–1000 mg/dL are typical of homozygous FH.
Superior limbic keratoconjunctivitis (SLK, Théodores syndrome) is a disease of the eye characterized by episodes of recurrent inflammation of the superior cornea and limbus, as well as of the superior tarsal and bulbar conjunctiva. It was first described by F. H. Théodore in 1963. Symptoms and signs
Patients present with red eye, burning, tearing, foreign body sensation and mild photophobia. Upon examination, the conjunctiva appears inflamed and thickened, especially at the limbus. Pathophysiology
The development and pathophysiology of SLK is not well understood, but appears to involve microtrauma of keratoconjunctival surfaces. This mechanical hypothesis is supported by the increased lid apposition of exophthalmic thyroid patients, who are known to have an increased incidence of superior limbic keratoconjunctivitis. Diagnosis
Treatment
First-line treatments include topical corticosteroids and artificial tears. For non-responsive cases, potential treatments include topical ciclosporin A, vitamin A, autologous serum and injections of triamcinolone. Surgical treatment options include thermocauterization of the bulbar conjunctiva and conjunctival resection, typically under rose bengal (RB) staining to visualize affected areas. Epidemiology
Superior limbic keratoconjunctivitis tends to occur more often with dry eye syndrome (keratoconjunctivitis sicca), hyperthyroidism and hyperparathyroidism. It is also a rare complication associated with rheumatoid arthritis. Rarely, it may occur as a consequence of upper eyelid blepharoplasty surgery. References


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