Despite the presence of skin findings and strong family history of our patient, the subject had not been considered for the diagnosis of FH in his early presentations. Late diagnosis has led to the progression of the atherosclerosis and has delayed the commencement of apheresis. For HoFH, LDL-apheresis is a lifesaving treatment decreasing cardiovascular events and enables the regression of xanthomas 3,4
. The patient underwent regular LDL-apheresis for 5 years. Lipid levels were reduced to target levels, however AS has progressed. In fact, guidelines recommend starting LDL-apheresis in early childhood (<6-7 of age) in order to prevent AS 5
. Apheresis, which was started at around the age of 10, was not able to prevent the progression of AS, even if it was effective in lowering LDL. Moreover, the atherosclerotic process might progress in 25% of the patients despite regular and effective lipid apheresis 6
. This could be explained by the non-sustained lipid decrease ensured by apheresis. LDL-cholesterol levels achieved at the end of each apheresis session rapidly increase to its former level in the following days. Moreover, apheresis is an invasive procedure with drawbacks and is also a chronic and time requiring therapy that leads to decreased compliance. Thus, more easily applicable new treatment options 7
are needed for achieving more effective lipid decrease with much more continuity and consistency.
HoFH cases in the literature are generally presented for the short term success of treatments with lipid lowering agents and/or apheresis. The longest survived patients are reported to have passed the age of 50 8. However, these long surviving patients in general have considerably lower pre-treatment cholesterol levels denoting a less severe genetic defect in the cholesterol pathways. Our patient was a severe form of HoFH associated with a cholesterol level of 1002 mg/dl at the time of diagnosis.
Patients with HoFH are at severe risk for premature cardiovascular events and need to be treated very early 9. Therefore, early diagnosis is the key point in the management of HoFH in order to prevent lifetime exposure to high cholesterol levels leading to premature atherosclerosis including AS.