Hepatitis C- and HIV-induced porphyria cutanea tarda

Abstract

Patient: Male, 47Final Diagnosis: Porphyria cutanea tardaSymptoms: Chills • cough dry • thumb swellingMedication: —Clinical Procedure: —Specialty: Metabolic Disorders and DiabeticsObjective:Challenging differential diagnosisBackground:Porphyria cutanea tarda (PCT) is the most common type of the porphyria. It occurs due to the deficiency of enzyme uroporphyrinogen decarboxylase (UROD), which is the fifth enzyme in the biosynthesis of heme and catalyzes the conversion of uroporphyrinogen to coproporphyrinogen. The risk factors for PCT include hereditary hemochromatosis, hepatitis C infection, ethanol abuse, estrogen use, HIV, smoking, chlorinated polycyclic aromatic hydrocarbons, and hemodialysis.Case Report:A 47-year-old Hispanic man presented with right thumb swelling, redness, and pain for approximately 1 week. Past medical history included HIV/AIDS, hepatitis C infection, alcohol abuse, heroin abuse, and CMV retinitis. Skin examination revealed blistering and hypo/hyper pigmented lesions over the dorsal aspects of the hands and other sun-exposed areas. Serum porphyrins were discovered to be elevated. The quantitative urine porphyrins revealed elevation of uroporphyrins, heptacarboxyl-porphyrins, hexacarboxy-porphyrins, pentacarboxyl-porphyrins and coproporphyrin. Genetic mutation of UROD was not detected. Due to the classic cutaneous lesions, laboratory findings, and associated risk factors, we were able to confirm our suspicion of the sporadic (type 1) form of PCT.Conclusions:A strong correlation has been demonstrated between the sporadic (type 1) form of PCT and hepatitis C virus (HCV) infection in multiple studies. The mechanism through which HCV infection may cause or trigger PCT is unknown. PCT has been described for many years, but still eludes the differential diagnosis in a patient with cutaneous findings. The uniqueness of our case is the possibility that combined risk factors have an effect on PCT.

Role of ABCB1 and glutathione S‑transferase gene variants in the association of porphyria cutanea tarda and human immunodeficiency virus infection

“…It is important to note that Porphyrias are multifactorial diseases, and that PCT in particular can be triggered by alcoholism, estrogens, drug abuse, iron overload or hepatotropic viral infections, through different mechanisms of alterations of heme metabolism ( 2 , 4 , 12 , 13 ). In our previous studies ( 12 ) and in those from other authors ( 40 , 41 ), the clinical symptomatology and biochemical alterations commonly observed in PCT patients are similar to those seen in HIV patients who develop PCT. Moreover, no differences were observed in terms of response to treatments for PCT (hydroxychloroquine alone or combined with phlebotomies).…”

Porphyria Cutanea Tarda Associated With Acute Hemorrhagic Pancreatitis

“…The diagnosis of PCT can be confirmed by high serum porphyrins, increased excretion of urinary uroporphyrin, and fecal coproporphyrin and isocoproporphyrin. 15 Normally, only trace amounts of porphyrins are present in plasma, and the amounts increase markedly in patients with cutaneous porphyrias. Being both sensitive and specific, it is increased in any patient with skin problems related to any type of porphyria and is seldom increased in other conditions.…”

“…If serum porphyrins are negative, porphyrias as a cause of the blistering condition can be ruled out. 15…”

Erythropoietic Protoporphyria-related Hepatopathy Successfully Treated with Phlebotomy

“…PCT, which is classified into sporadic and hereditary types, is also characterized by skin lesions in sun-exposed areas and liver dysfunction, as in EPP. A number of factors, such as alcohol ( 15 ), hepatitis C virus infection ( 16 ), HIV infection ( 16 , 17 ), estrogen exposure ( 18 ), renal failure ( 19 ), and lymphoma ( 20 ), have been identified as potential triggers for sporadic PCT. However, in contrast to EPP, PCT is characterized by iron overloading, which partially explains the liver dysfunction in this type of erythropoietic porphyria.…”