Raised serum alkaline phosphatase activity in one family

Area of Science:

• Biochemistry
• Genetics
• Clinical Medicine

Background:

• Elevated serum alkaline phosphatase (SAP) activity was incidentally detected in a family member.
• No apparent underlying disease was identified in the affected individuals.
• Three additional family members presented with similar SAP elevation without associated pathology.

Purpose of the Study:

• To investigate the cause of unexplained elevated serum alkaline phosphatase levels within a family.
• To determine the isoenzyme profile of the elevated alkaline phosphatase.
• To explore potential genetic inheritance patterns and exclude other causative factors.

Main Methods:

• Serum alkaline phosphatase levels and isoenzyme analysis were performed.
• Erythrocyte and histocompatibility antigen studies were conducted on nine family members.
• Karyotype analysis was performed on four family members to assess for chromosomal abnormalities.

Main Results:

• Elevated serum alkaline phosphatase levels were confirmed in four family members.
• The bone isoenzyme was found to be predominant in cases with elevated SAP.
• No correlation was found between histocompatibility antigens or karyotype abnormalities and elevated SAP.

Conclusions:

• The elevated serum alkaline phosphatase is likely due to the bone isoenzyme.
• The condition appears to be familial and not associated with other diseases or chromosomal abnormalities.
• Data suggest a probable autosomal dominant pattern of inheritance for this biochemical trait.