Homozygous familial hypercholesterolemia


HoFH (homozygous familial hypercholesterolemia) is a very rare genetic disorder with life-threatening consequences for those affected. It is the most severe form of familial hypercholesterolemia, which is characterised by extremely high LDL (low-density lipoprotein) cholesterol levels. 

The long-term exposure to significant elevated LDL-C levels in patients with HoFH can lead to premature atherosclerosis and increased risk of cardiovascular events such as acute coronary syndrome, heart attack, and stroke.

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    Cause & Symptoms
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    Diagnosis & Therapy
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    Everyday life

Diagnosis

It is very important to diagnose homozygous familial hypercholesterolemia at an early stage as the risk of secondary diseases can be reduced by administering treatment early on. The therapy is coupled with changes to the patient’s diet and lifestyle. 

The disease is diagnosed by carrying out a thorough examination of the patient’s medical history (including family history) by means of a detailed physical examination and determining blood lipids levels. Given that not all causal gene defects are known yet, only a genetic analysis can confirm the clinical diagnosis. 

The presence of homozygous familial hypercholesterolemia is likely if the following criteria are met:

  • Familial predisposition to diseases caused by vascular disorders such as heart attacks and strokes in younger years
  • Both parents have HeFH
  • Total cholesterol: 17 to 26 mmol/l (untreated > 650 to 1000 mg/dl) 
  • LDL-C: > 13 mmol/l (untreated > 500 mg/dl)
  • Cholesterol deposits (xanthomas) in the skin or tendons before the age of 10

Therapy

Homozygous familial hypercholesterolemia should be treated at a lipid specialist centre. The aim of any treatment is to lower LDL-C levels in the blood as best as possible. 

Drug-based treatment

Patients afflicted by homozygous familial hypercholesterolemia do not respond adequately to diet-related measures or conventional treatment to lower cholesterol. It is now possible to improve significantly on previous results using a new, additional therapeutic approach (MTP inhibition). 

LDL apheresis

LDL apheresis is a process resembling dialysis to eliminate LDL-C from the bloodstream. This process must be repeated every week or two as the effect is only temporary.

Additional measures

Getting enough exercise, eating a low-fat and low-cholesterol diet, and refraining from smoking are additional ways to help with the treatment of homozygous familial hypercholesterolemia.