Porphyrias diagnosed types by HPLC analysis: 10 years of Siriraj experience.

Objective: This study aims to report the HPLC patterns of urine porphyrin intermediates from Thai patients with various types of porphyrias in supporting the clinical diagnosis. Methods: A reverse phase HPLC method using kit reagents, was used to measure porphyrin intermediates in the urine of control subjects and patients with various types of porphyrias. Results: 22 control subjects showed very low levels of all urine porphyrin intermediates whereas 11 porphyriatic patients had increases of some specific isomers varying among each type of the disease. The results from 6 porphyria cutanea tarda (PCT) patients: marked increase of uroporphyrin and slight increase of the other porphyrin intermediates, 2 congenital erythropoietic porphyria (CEP), high elevation of uroporphyrin and coproporphyrin I – III ratio with slight increase of pentaporphyrin, 2 variegate porphyria (VP), marked increase of only coproporphyrin III and 1 acute intermittent porphyria (AIP) (non acute form), high increase of coproporphyrinIII with mild increase of ALA, PBG, uroporphyrin, and coproporphyrin I. Conclusion: The HPLC could provide data essential for differentiating common types of porphyrias in Thai patients, PCT, CEP, VP and AIP. Clinical findings of the patients and urine screening test for increased porphyrins were also helpful for the definite diagnosis.

Identification of known mutation in LDL receptor gene underlying severe FH phenotype in Thai patient: A case report.

Objective: Familial hypercholesterolemia (FH) is associated with atherosclerosis coronary artery disease (CAD). The aim of this study is to identify a mutation in the LDL receptor gene that underlined the FH phenotype in a female patient and her family. Methods: The LDL receptor gene was screened by Polymerase Chain Reaction-Single Strand Conformation Polymorphism (PCR-SSCP), direct DNA sequencing and was subsequently confirmed by PCR-RFLP. Results: The screening of the entire LDL receptor gene revealed a 5’ donor splice site mutation of the first base of intron 3, i.e., 313+1G T mutation in one allele. This mutation was previously reported in a Danish patient with severe hypercholesterolemia. Conclusions: This case report illustrates the use of DNA diagnosis of a female heterozygous FH case and her family members, which is more accurate than clinical diagnosis especially when clinical phenotype is variable or when the individual who is at high risk is still a normolipidemic at his/ her young age. DNA diagnosis is now used as a tool to find or diagnose FH. Accurate and/or early diagnosis is important for prevention and treatment of FH patients in order to avoid the development of CAD in these patients.