Dying from Sunshine

1Hofstra North Shore - Long Island Jewish School of Medicine, Manhasset, NY

Meeting: Hospital Medicine 2015, March 29-April 1, National Harbor, Md.

Abstract number: 655


Case Presentation:

A 77 year-old Caucasian male with a history of recently diagnosed myelodysplastic syndrome (MDS), hypertension, hyperlipidemia, atrial fibrillation, lung cancer treated with resection, and amyloidosis of the kidneys, presented to the ED with decreased appetite and dark urine for one week. Over the past six months, he had experienced intense itching and painful swelling when exposed to the sunlight.

Physical exam revealed scleral icterus and jaundice. Laboratory tests were significant for AST of 2104 U/L, ALT of 1521 U/L, alkaline phosphatase of 360 U/L, and total bilirubin of 6.6 mg/dL. A urine drug screen and serology for viral hepatitis, EBV, CMV, and autoimmune hepatitis were all negative. An MRCP showed cirrhosis of the liver, but no hepatic mass or choledocholelithiasis. Due to the patient’s sensitivity to sunlight, porphyrin analysis was sent.

Despite downtrending AST and ALT, the patient’s hyperbilirubinemia worsened to as high as 15 mg/dL. He began to develop abdominal pain that was increasingly difficult to control. After extensive discussion with his family, the patient opted for hospice care where he passed away. After the patient expired, porphyrin studies showed that the patient likely had both an acquired porphyria cutanea tarda from liver disease and an inherited form of erythropoietic protoporphyria (EPP) exacerbated by MDS. His son was then notified for testing for EPP. 


EPP is an autosomal recessive disorder resulting in impaired activity of ferrochelatase, an enzyme in heme biosynthesis. It is rare, mostly manifesting in childhood. In older patients, MDS can lead to EPP symptoms due to expansion of erythroid precursors with the ferrochelatase mutation. Presenting symptoms include painful sensitivity to light, non-blistering rash, and edema. Long term complications result from deposition of protoporphyrin in the liver and can progress to liver failure. In addition to clinical examination, diagnosis is usually made with elevated serum erythrocyte protoporphyrins which usually range from 300-4000 mcg/dL, and genetic testing. Treatment is supportive, with emphasis on avoidance of sunlight. Liver transplantation is effective for the treatment of liver dysfunction but does not treat the underlying disorder. Bone marrow transplantation can be considered in conjunction with liver transplantation. In cases where EPP is diagnosed, first degree relatives should be screened.


The late age of onset of symptoms as well as the extremely elevated levels of protoporphyrin suggest that this patient had a genetic predisposition to EPP which was exacerbated by his underlying MDS. In patients with MDS who present with signs of non-blistering photosensitivity and hepatobiliary dysfunction, EPP should be strongly considered. EPP patients with liver dysfunction should be evaluated for liver transplantation and bone marrow transplant should also be considered.

To cite this abstract:

Potashinsky A, Hoang H, Cohen J. Dying from Sunshine. Abstract published at Hospital Medicine 2015, March 29-April 1, National Harbor, Md. Abstract 655. Journal of Hospital Medicine. 2015; 10 (suppl 2). https://www.shmabstracts.com/abstract/dying-from-sunshine/. Accessed March 31, 2020.

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