Home Forums Other Specialities Cardiothoracic Medicine & Surgery FAMILIAL HYPERCHOLESTEROLAEMIA

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      Anonymous
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      Unless otherwise indicated, recommendations are relevant for people with possible or definite familial hypercholesterolaemia (FH).
      Recommendations are also applicable to people with heterozygous or homozygous FH, unless otherwise indicated.-UK GUIDANCE JULY 2016.

      Diagnosis

      Consider the possibility of FH in adults with raised cholesterol (total cholesterol typically greater than 7.5 mmol/l), especially when there is a personal or a family history of premature coronary heart disease.

      Exclude secondary causes of hypercholesterolaemia before a diagnosis of FH is considered.

      A diagnosis of FH should be made using the Simon Broome criteria, which include a combination of family history, clinical signs (specifically tendon xanthomata), cholesterol concentration and DNA testing .

      Consider a clinical diagnosis of homozygous FH in adults with a low-density lipoprotein cholesterol (LDL-C) concentration greater than 13 mmol/l and in children/young people with an LDL-C concentration greater than 11 mmol/l.

      All people with a clinical diagnosis of homozygous FH should be offered referral to a specialist centre.

      Confirm a diagnosis of FH, – should undertake two measurements of LDL-C concentration because biological and analytical variability occurs.

      Be aware that the absence of clinical signs (for example, tendon xanthomata) in adults and children/young people does not exclude a diagnosis of FH.

      A family history of premature coronary heart disease should always be assessed in a person being considered for a diagnosis of FH.

      When considering a diagnosis of FH, try to use standardised pedigree terminology to document, when possible, at least a three-generation pedigree. This should include relatives’ age of onset of coronary heart disease, lipid concentrations and smoking history.
      For deceased relatives, the age and cause of death, and smoking history should be documented. If possible, the index individual should verify this information with other family members.

      Ultrasonography of the Achilles tendon is not recommended in the diagnosis of FH.

      Coronary heart disease risk estimation tools such as those based on the Framingham algorithm should not be used because people with FH are already at a high risk of premature coronary heart disease.

      Offer people with a clinical diagnosis of FH a DNA test to increase the certainty of their diagnosis and to aid diagnosis among their relatives.

      Inform all people who have an identified mutation diagnostic of FH that they have an unequivocal diagnosis of FH even if their LDL-C concentration does not meet the diagnostic criteria.

      In a family where a DNA mutation is identified, not all family members may have inherited the mutation.
      When DNA testing has excluded FH in a member of a family, manage the person’s coronary heart disease risk as in the general population

      In children at risk of FH because of one affected parent, the following diagnostic tests should be carried out by the age of 10 years or at the earliest opportunity thereafter.

      A DNA test if the family mutation is known.

      LDL-C concentration measurement if the family mutation is not known. When excluding a diagnosis of FH a further LDL-C measurement should be repeated after puberty because LDL-C concentrations change during puberty.

      In children at risk of homozygous FH because of two affected parents or because of the presence of clinical signs, for example, cutaneous lipid deposits (xanthomata), LDL-C concentration should be measured before the age of 5 years or at the earliest opportunity thereafter.
      If the LDL-C concentration is greater than 11 mmol/l then a clinical diagnosis of homozygous FH should be considered.

      Management- can be added to the forum, if requested.

      G. Mohan.

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