Working Diagnosis:
Hemochromatosis due to Homozygous C282Y gene mutation and porphyria cutanea tarda.

Treatment:
He was initially treated with allergy shots and steroid injections, which was unsuccessful. Then he underwent weekly phlebotomy with lab monitoring every two months, which helped, but subsequently caused dehydration and fatigue. This impacted his ability to play football, so the phlebotomies were decreased to every two weeks, which improved his symptoms of dehydration and fatigue. Topical steroids helped with the skin lesions. Cessation of alcohol use was implemented.

Outcome:
Follow up at 3 months showed his ferritin level in the normal range (57 ng/mL) but his liver enzymes were still elevated (AST 47 U/L and ALT 90 U/L). At that time the athlete had received 12 phlebotomies. Follow up at 6 months showed both his ferritin level (50 ng/mL) and liver enzyme levels (AST 26 U/L and ALT 36 U/L) were within normal limits. At the 6 month follow-up, the athlete was unrestricted in his activities and was donating blood every 56 days. He was able to return to football practices and games during his senior year, and he only missed one game after he was diagnosed and treatment was started.

Editor's Comments:
Porphyrias are a group of diseases caused by abnormal heme synthesis. Porphyria Cutanea Tarda (PCT) is a dermatological disease characterized by photosensitivity and is the most common of the porphyrias. Skin biopsy is not required for the diagnosis of PCT; however, if performed, it may show eosinophilic periodic acid Schiff-positive globules in the epidermis ("caterpillar bodies"). All patients with PCT who have active skin lesions should be treated with phlebotomy or low-dose hydroxychloroquine. The treatment plan depends on the degree of iron overload and other susceptibility factors.

PCT is associated with Hereditary Hemochromatosis (HH) and may be the presenting symptom of underlying HH. HH is the most common inherited liver disease and is characterized by increased intestinal iron absorption, deposition of iron in various organs (most notably in the liver), and resultant oxidative damage. The diagnosis of PCT should prompt the clinician to obtain iron studies and liver function tests to screen for HH with a low threshold for genetic testing, as early diagnosis can prevent advance sequelae of HH. A large meta-analysis with genetic susceptibility for HH found that there was a 48-fold increase in the chance of developing PCT in those homozygous for C282Y.

References:
1. Bissell D, Anderson K, Bonkovsky H. Porphyria. New England Journal of Medicine. 2017;377(9):862-872. doi:10.1056/nejmra1608634
2. de Geus H, Dees A. Sporadic porphyria cutanea tarda due to haemochromatosis. Neth J Med. 2006;64(8):307-309.
3. Roberts A, Whatley S, Morgan R, Worwood M, Elder G. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. The Lancet. 1997;349(9048):321-323. doi:10.1016/s0140-6736(96)09436-6
4. Sarkany R. The management of porphyria cutanea tarda. Clin Exp Dermatol. 2001;26:225-232.
5. Bovenschen H, Vissers W. Primary hemochromatosis presented by porphyria cutanea tarda: a case report. Cases J. 2009;2(7246). doi:10.4076/1757-1626-2-7246
6. Edwards M, Ray J, Bacon B. Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis. ACG Case Rep J. 2019;6(11):e00247. doi:10.14309/crj.0000000000000247
7. Salgia R, Brown K. Diagnosis and Management of Hereditary Hemochromatosis. Clin Liver Dis. 2015;19:187-198. doi:10.1016/j.cld.2014.09.011
8. Jalil S, Grady JJ, Lee C, Anderson KE. Associations among behavior-related susceptibility factors in porphyria cutanea tarda. Clin Gastroenterol Hepatol. 2010;8:297-e1.

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